Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.2088516_2088525del | CA2573151990 | TSC2 | c.*3679_*3688del (n.*3679_*3688del) c.5177_5186del (p.Pro1726LeufsTer?) c.5327_5336del (p.Pro1776LeufsTer?) c.*5843_*5852del (n.*5843_*5852del) c.*8079_*8088del (n.*8079_*8088del) c.5330_5339del (p.Pro1777LeufsTer?) c.5261_5270del (p.Pro1754LeufsTer?) c.5129_5138del (p.Pro1710LeufsTer?) c.5162_5171del (p.Pro1721LeufsTer?) c.1553_1562del n.3212_3221del c.3984_3993del c.5189_5198del (p.Pro1730LeufsTer?) n.927_936del c.5132_5141del (p.Pro1711LeufsTer?) c.5198_5207del (p.Pro1733LeufsTer?) c.5123_5132del (p.Pro1708LeufsTer?) n.2978_2987del c.5255_5264del (p.Pro1752LeufsTer?) c.5201_5210del (p.Pro1734LeufsTer?) c.5216_5225del (p.Pro1739LeufsTer?) c.5126_5135del (p.Pro1709LeufsTer?) c.5251_5260del n.3414_3423del c.5324_5333del (p.Pro1775LeufsTer?) n.4145_4154del n.2582_2591del n.2553_2562del n.2443_2452del c.4985_4994del (p.Pro1662LeufsTer?) c.*4497_*4506del (n.*4497_*4506del) c.5021_5030del (p.Pro1674LeufsTer?) n.3053_3062del c.1512_1521del n.2445_2454del c.5384_5393del (p.Pro1795LeufsTer?) c.5381_5390del (p.Pro1794LeufsTer?) c.5273_5282del (p.Pro1758LeufsTer?) c.5252_5261del (p.Pro1751LeufsTer?) c.4598_4607del (p.Pro1533LeufsTer?) c.5546_5555del (p.Pro1849LeufsTer?) c.5294_5303del (p.Pro1765LeufsTer?) c.4040_4049del (p.Pro1347LeufsTer?) | ClinVar dbSNP |
16 | g.2088523G>A | CA276760043 | TSC2 | c.*3686G>A (n.*3686G>A) c.5184G>A (p.Gln1728=) c.5334G>A (p.Gln1778=) c.*5850G>A (n.*5850G>A) c.*8086G>A (n.*8086G>A) c.5337G>A (p.Gln1779=) c.5268G>A (p.Gln1756=) c.5136G>A (p.Gln1712=) c.5169G>A (p.Gln1723=) c.1560G>A n.3219G>A c.3991G>A c.5196G>A (p.Gln1732=) n.934G>A c.5139G>A (p.Gln1713=) c.5205G>A (p.Gln1735=) c.5130G>A (p.Gln1710=) n.2985G>A c.5262G>A (p.Gln1754=) c.5208G>A (p.Gln1736=) c.5223G>A (p.Gln1741=) c.5133G>A (p.Gln1711=) c.5258G>A n.3421G>A c.5331G>A (p.Gln1777=) n.4152G>A n.2589G>A n.2560G>A n.2450G>A c.4992G>A (p.Gln1664=) c.*4504G>A (n.*4504G>A) c.5028G>A (p.Gln1676=) n.3060G>A c.1519G>A n.2452G>A c.5391G>A (p.Gln1797=) c.5388G>A (p.Gln1796=) c.5280G>A (p.Gln1760=) c.5259G>A (p.Gln1753=) c.4605G>A (p.Gln1535=) c.5553G>A (p.Gln1851=) c.5301G>A (p.Gln1767=) c.4047G>A (p.Gln1349=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088523G>C | CA055156 | TSC2 | c.*3686G>C (n.*3686G>C) c.5184G>C (p.Gln1728His) c.5334G>C (p.Gln1778His) c.*5850G>C (n.*5850G>C) c.*8086G>C (n.*8086G>C) c.5337G>C (p.Gln1779His) c.5268G>C (p.Gln1756His) c.5136G>C (p.Gln1712His) c.5169G>C (p.Gln1723His) c.1560G>C n.3219G>C c.3991G>C c.5196G>C (p.Gln1732His) n.934G>C c.5139G>C (p.Gln1713His) c.5205G>C (p.Gln1735His) c.5130G>C (p.Gln1710His) n.2985G>C c.5262G>C (p.Gln1754His) c.5208G>C (p.Gln1736His) c.5223G>C (p.Gln1741His) c.5133G>C (p.Gln1711His) c.5258G>C n.3421G>C c.5331G>C (p.Gln1777His) n.4152G>C n.2589G>C n.2560G>C n.2450G>C c.4992G>C (p.Gln1664His) c.*4504G>C (n.*4504G>C) c.5028G>C (p.Gln1676His) n.3060G>C c.1519G>C n.2452G>C c.5391G>C (p.Gln1797His) c.5388G>C (p.Gln1796His) c.5280G>C (p.Gln1760His) c.5259G>C (p.Gln1753His) c.4605G>C (p.Gln1535His) c.5553G>C (p.Gln1851His) c.5301G>C (p.Gln1767His) c.4047G>C (p.Gln1349His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2088523G= | CA2202033968 | TSC2 | c.*3686G= (n.*3686G=) c.5184G= (p.Gln1728=) c.5334G= (p.Gln1778=) c.*5850G= (n.*5850G=) c.*8086G= (n.*8086G=) c.5337G= (p.Gln1779=) c.5268G= (p.Gln1756=) c.5136G= (p.Gln1712=) c.5169G= (p.Gln1723=) c.1560G= n.3219G= c.3991G= c.5196G= (p.Gln1732=) n.934G= c.5139G= (p.Gln1713=) c.5205G= (p.Gln1735=) c.5130G= (p.Gln1710=) n.2985G= c.5262G= (p.Gln1754=) c.5208G= (p.Gln1736=) c.5223G= (p.Gln1741=) c.5133G= (p.Gln1711=) c.5258G= n.3421G= c.5331G= (p.Gln1777=) n.4152G= n.2589G= n.2560G= n.2450G= c.4992G= (p.Gln1664=) c.*4504G= (n.*4504G=) c.5028G= (p.Gln1676=) n.3060G= c.1519G= n.2452G= c.5391G= (p.Gln1797=) c.5388G= (p.Gln1796=) c.5280G= (p.Gln1760=) c.5259G= (p.Gln1753=) c.4605G= (p.Gln1535=) c.5553G= (p.Gln1851=) c.5301G= (p.Gln1767=) c.4047G= (p.Gln1349=) | |
16 | g.2088523G>T | CA394315644 | TSC2 | c.*3686G>T (n.*3686G>T) c.5184G>T (p.Gln1728His) c.5334G>T (p.Gln1778His) c.*5850G>T (n.*5850G>T) c.*8086G>T (n.*8086G>T) c.5337G>T (p.Gln1779His) c.5268G>T (p.Gln1756His) c.5136G>T (p.Gln1712His) c.5169G>T (p.Gln1723His) c.1560G>T n.3219G>T c.3991G>T c.5196G>T (p.Gln1732His) n.934G>T c.5139G>T (p.Gln1713His) c.5205G>T (p.Gln1735His) c.5130G>T (p.Gln1710His) n.2985G>T c.5262G>T (p.Gln1754His) c.5208G>T (p.Gln1736His) c.5223G>T (p.Gln1741His) c.5133G>T (p.Gln1711His) c.5258G>T n.3421G>T c.5331G>T (p.Gln1777His) n.4152G>T n.2589G>T n.2560G>T n.2450G>T c.4992G>T (p.Gln1664His) c.*4504G>T (n.*4504G>T) c.5028G>T (p.Gln1676His) n.3060G>T c.1519G>T n.2452G>T c.5391G>T (p.Gln1797His) c.5388G>T (p.Gln1796His) c.5280G>T (p.Gln1760His) c.5259G>T (p.Gln1753His) c.4605G>T (p.Gln1535His) c.5553G>T (p.Gln1851His) c.5301G>T (p.Gln1767His) c.4047G>T (p.Gln1349His) | |
16 | g.2088524A= | CA2202033981 | TSC2 | c.*3687A= (n.*3687A=) c.5185A= (p.Thr1729=) c.5335A= (p.Thr1779=) c.*5851A= (n.*5851A=) c.*8087A= (n.*8087A=) c.5338A= (p.Thr1780=) c.5269A= (p.Thr1757=) c.5137A= (p.Thr1713=) c.5170A= (p.Thr1724=) c.1561A= n.3220A= c.3992A= c.5197A= (p.Thr1733=) n.935A= c.5140A= (p.Thr1714=) c.5206A= (p.Thr1736=) c.5131A= (p.Thr1711=) n.2986A= c.5263A= (p.Thr1755=) c.5209A= (p.Thr1737=) c.5224A= (p.Thr1742=) c.5134A= (p.Thr1712=) c.5259A= n.3422A= c.5332A= (p.Thr1778=) n.4153A= n.2590A= n.2561A= n.2451A= c.4993A= (p.Thr1665=) c.*4505A= (n.*4505A=) c.5029A= (p.Thr1677=) n.3061A= c.1520A= n.2453A= c.5392A= (p.Thr1798=) c.5389A= (p.Thr1797=) c.5281A= (p.Thr1761=) c.5260A= (p.Thr1754=) c.4606A= (p.Thr1536=) c.5554A= (p.Thr1852=) c.5302A= (p.Thr1768=) c.4048A= (p.Thr1350=) | |
16 | g.2088524A>C | CA276760048 | TSC2 | c.*3687A>C (n.*3687A>C) c.5185A>C (p.Thr1729Pro) c.5335A>C (p.Thr1779Pro) c.*5851A>C (n.*5851A>C) c.*8087A>C (n.*8087A>C) c.5338A>C (p.Thr1780Pro) c.5269A>C (p.Thr1757Pro) c.5137A>C (p.Thr1713Pro) c.5170A>C (p.Thr1724Pro) c.1561A>C n.3220A>C c.3992A>C c.5197A>C (p.Thr1733Pro) n.935A>C c.5140A>C (p.Thr1714Pro) c.5206A>C (p.Thr1736Pro) c.5131A>C (p.Thr1711Pro) n.2986A>C c.5263A>C (p.Thr1755Pro) c.5209A>C (p.Thr1737Pro) c.5224A>C (p.Thr1742Pro) c.5134A>C (p.Thr1712Pro) c.5259A>C n.3422A>C c.5332A>C (p.Thr1778Pro) n.4153A>C n.2590A>C n.2561A>C n.2451A>C c.4993A>C (p.Thr1665Pro) c.*4505A>C (n.*4505A>C) c.5029A>C (p.Thr1677Pro) n.3061A>C c.1520A>C n.2453A>C c.5392A>C (p.Thr1798Pro) c.5389A>C (p.Thr1797Pro) c.5281A>C (p.Thr1761Pro) c.5260A>C (p.Thr1754Pro) c.4606A>C (p.Thr1536Pro) c.5554A>C (p.Thr1852Pro) c.5302A>C (p.Thr1768Pro) c.4048A>C (p.Thr1350Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.2088524A>G | CA394315648 | TSC2 | c.*3687A>G (n.*3687A>G) c.5185A>G (p.Thr1729Ala) c.5335A>G (p.Thr1779Ala) c.*5851A>G (n.*5851A>G) c.*8087A>G (n.*8087A>G) c.5338A>G (p.Thr1780Ala) c.5269A>G (p.Thr1757Ala) c.5137A>G (p.Thr1713Ala) c.5170A>G (p.Thr1724Ala) c.1561A>G n.3220A>G c.3992A>G c.5197A>G (p.Thr1733Ala) n.935A>G c.5140A>G (p.Thr1714Ala) c.5206A>G (p.Thr1736Ala) c.5131A>G (p.Thr1711Ala) n.2986A>G c.5263A>G (p.Thr1755Ala) c.5209A>G (p.Thr1737Ala) c.5224A>G (p.Thr1742Ala) c.5134A>G (p.Thr1712Ala) c.5259A>G n.3422A>G c.5332A>G (p.Thr1778Ala) n.4153A>G n.2590A>G n.2561A>G n.2451A>G c.4993A>G (p.Thr1665Ala) c.*4505A>G (n.*4505A>G) c.5029A>G (p.Thr1677Ala) n.3061A>G c.1520A>G n.2453A>G c.5392A>G (p.Thr1798Ala) c.5389A>G (p.Thr1797Ala) c.5281A>G (p.Thr1761Ala) c.5260A>G (p.Thr1754Ala) c.4606A>G (p.Thr1536Ala) c.5554A>G (p.Thr1852Ala) c.5302A>G (p.Thr1768Ala) c.4048A>G (p.Thr1350Ala) | ClinVar gnomAD v4 |
16 | g.2088524A>T | CA394315653 | TSC2 | c.*3687A>T (n.*3687A>T) c.5185A>T (p.Thr1729Ser) c.5335A>T (p.Thr1779Ser) c.*5851A>T (n.*5851A>T) c.*8087A>T (n.*8087A>T) c.5338A>T (p.Thr1780Ser) c.5269A>T (p.Thr1757Ser) c.5137A>T (p.Thr1713Ser) c.5170A>T (p.Thr1724Ser) c.1561A>T n.3220A>T c.3992A>T c.5197A>T (p.Thr1733Ser) n.935A>T c.5140A>T (p.Thr1714Ser) c.5206A>T (p.Thr1736Ser) c.5131A>T (p.Thr1711Ser) n.2986A>T c.5263A>T (p.Thr1755Ser) c.5209A>T (p.Thr1737Ser) c.5224A>T (p.Thr1742Ser) c.5134A>T (p.Thr1712Ser) c.5259A>T n.3422A>T c.5332A>T (p.Thr1778Ser) n.4153A>T n.2590A>T n.2561A>T n.2451A>T c.4993A>T (p.Thr1665Ser) c.*4505A>T (n.*4505A>T) c.5029A>T (p.Thr1677Ser) n.3061A>T c.1520A>T n.2453A>T c.5392A>T (p.Thr1798Ser) c.5389A>T (p.Thr1797Ser) c.5281A>T (p.Thr1761Ser) c.5260A>T (p.Thr1754Ser) c.4606A>T (p.Thr1536Ser) c.5554A>T (p.Thr1852Ser) c.5302A>T (p.Thr1768Ser) c.4048A>T (p.Thr1350Ser) | |
16 | g.2088524_2088526delinsACT | CA2202033986 | TSC2 | c.*3687_*3689delinsACT (n.*3687_*3689delinsACT) c.5185_5187delinsACT (p.Thr1729=) c.5335_5337delinsACT (p.Thr1779=) c.*5851_*5853delinsACT (n.*5851_*5853delinsACT) c.*8087_*8089delinsACT (n.*8087_*8089delinsACT) c.5338_5340delinsACT (p.Thr1780=) c.5269_5271delinsACT (p.Thr1757=) c.5137_5139delinsACT (p.Thr1713=) c.5170_5172delinsACT (p.Thr1724=) c.1561_1563delinsACT n.3220_3222delinsACT c.3992_3994delinsACT c.5197_5199delinsACT (p.Thr1733=) n.935_937delinsACT c.5140_5142delinsACT (p.Thr1714=) c.5206_5208delinsACT (p.Thr1736=) c.5131_5133delinsACT (p.Thr1711=) n.2986_2988delinsACT c.5263_5265delinsACT (p.Thr1755=) c.5209_5211delinsACT (p.Thr1737=) c.5224_5226delinsACT (p.Thr1742=) c.5134_5136delinsACT (p.Thr1712=) c.5259_5261delinsACT n.3422_3424delinsACT c.5332_5334delinsACT (p.Thr1778=) n.4153_4155delinsACT n.2590_2592delinsACT n.2561_2563delinsACT n.2451_2453delinsACT c.4993_4995delinsACT (p.Thr1665=) c.*4505_*4507delinsACT (n.*4505_*4507delinsACT) c.5029_5031delinsACT (p.Thr1677=) n.3061_3063delinsACT c.1520_1522delinsACT n.2453_2455delinsACT c.5392_5394delinsACT (p.Thr1798=) c.5389_5391delinsACT (p.Thr1797=) c.5281_5283delinsACT (p.Thr1761=) c.5260_5262delinsACT (p.Thr1754=) c.4606_4608delinsACT (p.Thr1536=) c.5554_5556delinsACT (p.Thr1852=) c.5302_5304delinsACT (p.Thr1768=) c.4048_4050delinsACT (p.Thr1350=) | |
16 | g.2088526_2088540dup | CA2580091203 | TSC2 | c.*3689_*3703dup (n.*3689_*3703dup) c.5187_5201dup (p.Thr1734_Pro1735insProAlaGluProThr) c.5337_5351dup (p.Thr1784_Pro1785insProAlaGluProThr) c.*5853_*5867dup (n.*5853_*5867dup) c.*8089_*8103dup (n.*8089_*8103dup) c.5340_5354dup (p.Thr1785_Pro1786insProAlaGluProThr) c.5271_5285dup (p.Thr1762_Pro1763insProAlaGluProThr) c.5139_5153dup (p.Thr1718_Pro1719insProAlaGluProThr) c.5172_5186dup (p.Thr1729_Pro1730insProAlaGluProThr) c.1563_1577dup n.3222_3236dup c.3994_4008dup c.5199_5213dup (p.Thr1738_Pro1739insProAlaGluProThr) n.937_951dup c.5142_5156dup (p.Thr1719_Pro1720insProAlaGluProThr) c.5208_5222dup (p.Thr1741_Pro1742insProAlaGluProThr) c.5133_5147dup (p.Thr1716_Pro1717insProAlaGluProThr) n.2988_3002dup c.5265_5279dup (p.Thr1760_Pro1761insProAlaGluProThr) c.5211_5225dup (p.Thr1742_Pro1743insProAlaGluProThr) c.5226_5240dup (p.Thr1747_Pro1748insProAlaGluProThr) c.5136_5150dup (p.Thr1717_Pro1718insProAlaGluProThr) c.5261_5275dup n.3424_3438dup c.5334_5348dup (p.Thr1783_Pro1784insProAlaGluProThr) n.4155_4169dup n.2592_2606dup n.2563_2577dup n.2453_2467dup c.4995_5009dup (p.Thr1670_Pro1671insProAlaGluProThr) c.*4507_*4521dup (n.*4507_*4521dup) c.5031_5045dup (p.Thr1682_Pro1683insProAlaGluProThr) n.3063_3077dup c.1522_1536dup n.2455_2469dup c.5394_5408dup (p.Thr1803_Pro1804insProAlaGluProThr) c.5391_5405dup (p.Thr1802_Pro1803insProAlaGluProThr) c.5283_5297dup (p.Thr1766_Pro1767insProAlaGluProThr) c.5262_5276dup (p.Thr1759_Pro1760insProAlaGluProThr) c.4608_4622dup (p.Thr1541_Pro1542insProAlaGluProThr) c.5556_5570dup (p.Thr1857_Pro1858insProAlaGluProThr) c.5304_5318dup (p.Thr1773_Pro1774insProAlaGluProThr) c.4050_4064dup (p.Thr1355_Pro1356insProAlaGluProThr) | ClinVar |
16 | g.2088525C>A | CA394315654 | TSC2 | c.*3688C>A (n.*3688C>A) c.5186C>A (p.Thr1729Asn) c.5336C>A (p.Thr1779Asn) c.*5852C>A (n.*5852C>A) c.*8088C>A (n.*8088C>A) c.5339C>A (p.Thr1780Asn) c.5270C>A (p.Thr1757Asn) c.5138C>A (p.Thr1713Asn) c.5171C>A (p.Thr1724Asn) c.1562C>A n.3221C>A c.3993C>A c.5198C>A (p.Thr1733Asn) n.936C>A c.5141C>A (p.Thr1714Asn) c.5207C>A (p.Thr1736Asn) c.5132C>A (p.Thr1711Asn) n.2987C>A c.5264C>A (p.Thr1755Asn) c.5210C>A (p.Thr1737Asn) c.5225C>A (p.Thr1742Asn) c.5135C>A (p.Thr1712Asn) c.5260C>A n.3423C>A c.5333C>A (p.Thr1778Asn) n.4154C>A n.2591C>A n.2562C>A n.2452C>A c.4994C>A (p.Thr1665Asn) c.*4506C>A (n.*4506C>A) c.5030C>A (p.Thr1677Asn) n.3062C>A c.1521C>A n.2454C>A c.5393C>A (p.Thr1798Asn) c.5390C>A (p.Thr1797Asn) c.5282C>A (p.Thr1761Asn) c.5261C>A (p.Thr1754Asn) c.4607C>A (p.Thr1536Asn) c.5555C>A (p.Thr1852Asn) c.5303C>A (p.Thr1768Asn) c.4049C>A (p.Thr1350Asn) | |
16 | g.2088525C= | CA2202033997 | TSC2 | c.*3688C= (n.*3688C=) c.5186C= (p.Thr1729=) c.5336C= (p.Thr1779=) c.*5852C= (n.*5852C=) c.*8088C= (n.*8088C=) c.5339C= (p.Thr1780=) c.5270C= (p.Thr1757=) c.5138C= (p.Thr1713=) c.5171C= (p.Thr1724=) c.1562C= n.3221C= c.3993C= c.5198C= (p.Thr1733=) n.936C= c.5141C= (p.Thr1714=) c.5207C= (p.Thr1736=) c.5132C= (p.Thr1711=) n.2987C= c.5264C= (p.Thr1755=) c.5210C= (p.Thr1737=) c.5225C= (p.Thr1742=) c.5135C= (p.Thr1712=) c.5260C= n.3423C= c.5333C= (p.Thr1778=) n.4154C= n.2591C= n.2562C= n.2452C= c.4994C= (p.Thr1665=) c.*4506C= (n.*4506C=) c.5030C= (p.Thr1677=) n.3062C= c.1521C= n.2454C= c.5393C= (p.Thr1798=) c.5390C= (p.Thr1797=) c.5282C= (p.Thr1761=) c.5261C= (p.Thr1754=) c.4607C= (p.Thr1536=) c.5555C= (p.Thr1852=) c.5303C= (p.Thr1768=) c.4049C= (p.Thr1350=) | |
16 | g.2088525C>G | CA394315669 | TSC2 | c.*3688C>G (n.*3688C>G) c.5186C>G (p.Thr1729Ser) c.5336C>G (p.Thr1779Ser) c.*5852C>G (n.*5852C>G) c.*8088C>G (n.*8088C>G) c.5339C>G (p.Thr1780Ser) c.5270C>G (p.Thr1757Ser) c.5138C>G (p.Thr1713Ser) c.5171C>G (p.Thr1724Ser) c.1562C>G n.3221C>G c.3993C>G c.5198C>G (p.Thr1733Ser) n.936C>G c.5141C>G (p.Thr1714Ser) c.5207C>G (p.Thr1736Ser) c.5132C>G (p.Thr1711Ser) n.2987C>G c.5264C>G (p.Thr1755Ser) c.5210C>G (p.Thr1737Ser) c.5225C>G (p.Thr1742Ser) c.5135C>G (p.Thr1712Ser) c.5260C>G n.3423C>G c.5333C>G (p.Thr1778Ser) n.4154C>G n.2591C>G n.2562C>G n.2452C>G c.4994C>G (p.Thr1665Ser) c.*4506C>G (n.*4506C>G) c.5030C>G (p.Thr1677Ser) n.3062C>G c.1521C>G n.2454C>G c.5393C>G (p.Thr1798Ser) c.5390C>G (p.Thr1797Ser) c.5282C>G (p.Thr1761Ser) c.5261C>G (p.Thr1754Ser) c.4607C>G (p.Thr1536Ser) c.5555C>G (p.Thr1852Ser) c.5303C>G (p.Thr1768Ser) c.4049C>G (p.Thr1350Ser) | |
16 | g.2088525C>T | CA055164 | TSC2 | c.*3688C>T (n.*3688C>T) c.5186C>T (p.Thr1729Ile) c.5336C>T (p.Thr1779Ile) c.*5852C>T (n.*5852C>T) c.*8088C>T (n.*8088C>T) c.5339C>T (p.Thr1780Ile) c.5270C>T (p.Thr1757Ile) c.5138C>T (p.Thr1713Ile) c.5171C>T (p.Thr1724Ile) c.1562C>T n.3221C>T c.3993C>T c.5198C>T (p.Thr1733Ile) n.936C>T c.5141C>T (p.Thr1714Ile) c.5207C>T (p.Thr1736Ile) c.5132C>T (p.Thr1711Ile) n.2987C>T c.5264C>T (p.Thr1755Ile) c.5210C>T (p.Thr1737Ile) c.5225C>T (p.Thr1742Ile) c.5135C>T (p.Thr1712Ile) c.5260C>T n.3423C>T c.5333C>T (p.Thr1778Ile) n.4154C>T n.2591C>T n.2562C>T n.2452C>T c.4994C>T (p.Thr1665Ile) c.*4506C>T (n.*4506C>T) c.5030C>T (p.Thr1677Ile) n.3062C>T c.1521C>T n.2454C>T c.5393C>T (p.Thr1798Ile) c.5390C>T (p.Thr1797Ile) c.5282C>T (p.Thr1761Ile) c.5261C>T (p.Thr1754Ile) c.4607C>T (p.Thr1536Ile) c.5555C>T (p.Thr1852Ile) c.5303C>T (p.Thr1768Ile) c.4049C>T (p.Thr1350Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088526_2088527del | CA620705134 | TSC2 | c.*3689_*3690del (n.*3689_*3690del) c.5187_5188del (p.Pro1730SerfsTer8) c.5337_5338del (p.Pro1780SerfsTer8) c.*5853_*5854del (n.*5853_*5854del) c.*8089_*8090del (n.*8089_*8090del) c.5340_5341del (p.Pro1781SerfsTer8) c.5271_5272del (p.Pro1758SerfsTer8) c.5139_5140del (p.Pro1714SerfsTer8) c.5172_5173del (p.Pro1725SerfsTer8) c.1563_1564del n.3222_3223del c.3994_3995del c.5199_5200del (p.Pro1734SerfsTer8) n.937_938del c.5142_5143del (p.Pro1715SerfsTer8) c.5208_5209del (p.Pro1737SerfsTer8) c.5133_5134del (p.Pro1712SerfsTer8) n.2988_2989del c.5265_5266del (p.Pro1756SerfsTer8) c.5211_5212del (p.Pro1738SerfsTer8) c.5226_5227del (p.Pro1743SerfsTer8) c.5136_5137del (p.Pro1713SerfsTer8) c.5261_5262del n.3424_3425del c.5334_5335del (p.Pro1779SerfsTer8) n.4155_4156del n.2592_2593del n.2563_2564del n.2453_2454del c.4995_4996del (p.Pro1666SerfsTer8) c.*4507_*4508del (n.*4507_*4508del) c.5031_5032del (p.Pro1678SerfsTer8) n.3063_3064del c.1522_1523del n.2455_2456del c.5394_5395del (p.Pro1799SerfsTer8) c.5391_5392del (p.Pro1798SerfsTer8) c.5283_5284del (p.Pro1762SerfsTer8) c.5262_5263del (p.Pro1755SerfsTer8) c.4608_4609del (p.Pro1537SerfsTer8) c.5556_5557del (p.Pro1853SerfsTer8) c.5304_5305del (p.Pro1769SerfsTer8) c.4050_4051del (p.Pro1351SerfsTer8) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088525_2088557delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG | CA2202033996 | TSC2 | c.*3688_*3720delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (n.*3688_*3720delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG) c.5186_5218delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1729=) c.5336_5368delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1779=) c.*5852_*5884delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (n.*5852_*5884delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG) c.*8088_*8120delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (n.*8088_*8120delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG) c.5339_5371delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1780=) c.5270_5302delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1757=) c.5138_5170delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1713=) c.5171_5203delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1724=) c.1562_1594delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG n.3221_3253delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG c.3993_4025delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG c.5198_5230delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1733=) n.936_968delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG c.5141_5173delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1714=) c.5207_5239delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1736=) c.5132_5164delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1711=) n.2987_3019delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG c.5264_5296delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1755=) c.5210_5242delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1737=) c.5225_5257delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1742=) c.5135_5167delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1712=) c.5260_5292delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG n.3423_3455delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG c.5333_5365delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1778=) n.4154_4186delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG n.2591_2623delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG n.2562_2594delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG n.2452_2484delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG c.4994_5026delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1665=) c.*4506_*4538delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (n.*4506_*4538delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG) c.5030_5062delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1677=) n.3062_3094delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG c.1521_1553delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG n.2454_2486delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG c.5393_5425delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1798=) c.5390_5422delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1797=) c.5282_5314delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1761=) c.5261_5293delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1754=) c.4607_4639delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1536=) c.5555_5587delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1852=) c.5303_5335delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1768=) c.4049_4081delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1350=) | |
16 | g.2088526T>A | CA493043715 | TSC2 | c.*3689T>A (n.*3689T>A) c.5187T>A (p.Thr1729=) c.5337T>A (p.Thr1779=) c.*5853T>A (n.*5853T>A) c.*8089T>A (n.*8089T>A) c.5340T>A (p.Thr1780=) c.5271T>A (p.Thr1757=) c.5139T>A (p.Thr1713=) c.5172T>A (p.Thr1724=) c.1563T>A n.3222T>A c.3994T>A c.5199T>A (p.Thr1733=) n.937T>A c.5142T>A (p.Thr1714=) c.5208T>A (p.Thr1736=) c.5133T>A (p.Thr1711=) n.2988T>A c.5265T>A (p.Thr1755=) c.5211T>A (p.Thr1737=) c.5226T>A (p.Thr1742=) c.5136T>A (p.Thr1712=) c.5261T>A n.3424T>A c.5334T>A (p.Thr1778=) n.4155T>A n.2592T>A n.2563T>A n.2453T>A c.4995T>A (p.Thr1665=) c.*4507T>A (n.*4507T>A) c.5031T>A (p.Thr1677=) n.3063T>A c.1522T>A n.2455T>A c.5394T>A (p.Thr1798=) c.5391T>A (p.Thr1797=) c.5283T>A (p.Thr1761=) c.5262T>A (p.Thr1754=) c.4608T>A (p.Thr1536=) c.5556T>A (p.Thr1852=) c.5304T>A (p.Thr1768=) c.4050T>A (p.Thr1350=) | ClinVar dbSNP |
16 | g.2088526T>C | CA493043716 | TSC2 | c.*3689T>C (n.*3689T>C) c.5187T>C (p.Thr1729=) c.5337T>C (p.Thr1779=) c.*5853T>C (n.*5853T>C) c.*8089T>C (n.*8089T>C) c.5340T>C (p.Thr1780=) c.5271T>C (p.Thr1757=) c.5139T>C (p.Thr1713=) c.5172T>C (p.Thr1724=) c.1563T>C n.3222T>C c.3994T>C c.5199T>C (p.Thr1733=) n.937T>C c.5142T>C (p.Thr1714=) c.5208T>C (p.Thr1736=) c.5133T>C (p.Thr1711=) n.2988T>C c.5265T>C (p.Thr1755=) c.5211T>C (p.Thr1737=) c.5226T>C (p.Thr1742=) c.5136T>C (p.Thr1712=) c.5261T>C n.3424T>C c.5334T>C (p.Thr1778=) n.4155T>C n.2592T>C n.2563T>C n.2453T>C c.4995T>C (p.Thr1665=) c.*4507T>C (n.*4507T>C) c.5031T>C (p.Thr1677=) n.3063T>C c.1522T>C n.2455T>C c.5394T>C (p.Thr1798=) c.5391T>C (p.Thr1797=) c.5283T>C (p.Thr1761=) c.5262T>C (p.Thr1754=) c.4608T>C (p.Thr1536=) c.5556T>C (p.Thr1852=) c.5304T>C (p.Thr1768=) c.4050T>C (p.Thr1350=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088526T>G | CA493043717 | TSC2 | c.*3689T>G (n.*3689T>G) c.5187T>G (p.Thr1729=) c.5337T>G (p.Thr1779=) c.*5853T>G (n.*5853T>G) c.*8089T>G (n.*8089T>G) c.5340T>G (p.Thr1780=) c.5271T>G (p.Thr1757=) c.5139T>G (p.Thr1713=) c.5172T>G (p.Thr1724=) c.1563T>G n.3222T>G c.3994T>G c.5199T>G (p.Thr1733=) n.937T>G c.5142T>G (p.Thr1714=) c.5208T>G (p.Thr1736=) c.5133T>G (p.Thr1711=) n.2988T>G c.5265T>G (p.Thr1755=) c.5211T>G (p.Thr1737=) c.5226T>G (p.Thr1742=) c.5136T>G (p.Thr1712=) c.5261T>G n.3424T>G c.5334T>G (p.Thr1778=) n.4155T>G n.2592T>G n.2563T>G n.2453T>G c.4995T>G (p.Thr1665=) c.*4507T>G (n.*4507T>G) c.5031T>G (p.Thr1677=) n.3063T>G c.1522T>G n.2455T>G c.5394T>G (p.Thr1798=) c.5391T>G (p.Thr1797=) c.5283T>G (p.Thr1761=) c.5262T>G (p.Thr1754=) c.4608T>G (p.Thr1536=) c.5556T>G (p.Thr1852=) c.5304T>G (p.Thr1768=) c.4050T>G (p.Thr1350=) | ClinVar dbSNP |
16 | g.2088526T= | CA2202034009 | TSC2 | c.*3689T= (n.*3689T=) c.5187T= (p.Thr1729=) c.5337T= (p.Thr1779=) c.*5853T= (n.*5853T=) c.*8089T= (n.*8089T=) c.5340T= (p.Thr1780=) c.5271T= (p.Thr1757=) c.5139T= (p.Thr1713=) c.5172T= (p.Thr1724=) c.1563T= n.3222T= c.3994T= c.5199T= (p.Thr1733=) n.937T= c.5142T= (p.Thr1714=) c.5208T= (p.Thr1736=) c.5133T= (p.Thr1711=) n.2988T= c.5265T= (p.Thr1755=) c.5211T= (p.Thr1737=) c.5226T= (p.Thr1742=) c.5136T= (p.Thr1712=) c.5261T= n.3424T= c.5334T= (p.Thr1778=) n.4155T= n.2592T= n.2563T= n.2453T= c.4995T= (p.Thr1665=) c.*4507T= (n.*4507T=) c.5031T= (p.Thr1677=) n.3063T= c.1522T= n.2455T= c.5394T= (p.Thr1798=) c.5391T= (p.Thr1797=) c.5283T= (p.Thr1761=) c.5262T= (p.Thr1754=) c.4608T= (p.Thr1536=) c.5556T= (p.Thr1852=) c.5304T= (p.Thr1768=) c.4050T= (p.Thr1350=) | |
16 | g.2088526dup | CA2838629630 | TSC2 | c.*3689dup (n.*3689dup) c.5187dup (p.Pro1730SerfsTer9) c.5337dup (p.Pro1780SerfsTer9) c.*5853dup (n.*5853dup) c.*8089dup (n.*8089dup) c.5340dup (p.Pro1781SerfsTer9) c.5271dup (p.Pro1758SerfsTer9) c.5139dup (p.Pro1714SerfsTer9) c.5172dup (p.Pro1725SerfsTer9) c.1563dup n.3222dup c.3994dup c.5199dup (p.Pro1734SerfsTer9) n.937dup c.5142dup (p.Pro1715SerfsTer9) c.5208dup (p.Pro1737SerfsTer9) c.5133dup (p.Pro1712SerfsTer9) n.2988dup c.5265dup (p.Pro1756SerfsTer9) c.5211dup (p.Pro1738SerfsTer9) c.5226dup (p.Pro1743SerfsTer9) c.5136dup (p.Pro1713SerfsTer9) c.5261dup n.3424dup c.5334dup (p.Pro1779SerfsTer9) n.4155dup n.2592dup n.2563dup n.2453dup c.4995dup (p.Pro1666SerfsTer9) c.*4507dup (n.*4507dup) c.5031dup (p.Pro1678SerfsTer9) n.3063dup c.1522dup n.2455dup c.5394dup (p.Pro1799SerfsTer9) c.5391dup (p.Pro1798SerfsTer9) c.5283dup (p.Pro1762SerfsTer9) c.5262dup (p.Pro1755SerfsTer9) c.4608dup (p.Pro1537SerfsTer9) c.5556dup (p.Pro1853SerfsTer9) c.5304dup (p.Pro1769SerfsTer9) c.4050dup (p.Pro1351SerfsTer9) | |
16 | g.2088526_2088557del | CA022400 | TSC2 | c.*3689_*3720del (n.*3689_*3720del) c.5187_5218del (p.Pro1733AlafsTer?) c.5337_5368del (p.Pro1783AlafsTer?) c.*5853_*5884del (n.*5853_*5884del) c.*8089_*8120del (n.*8089_*8120del) c.5340_5371del (p.Pro1784AlafsTer?) c.5271_5302del (p.Pro1761AlafsTer?) c.5139_5170del (p.Pro1717AlafsTer?) c.5172_5203del (p.Pro1728AlafsTer?) c.1563_1594del n.3222_3253del c.3994_4025del c.5199_5230del (p.Pro1737AlafsTer?) n.937_968del c.5142_5173del (p.Pro1718AlafsTer?) c.5208_5239del (p.Pro1740AlafsTer?) c.5133_5164del (p.Pro1715AlafsTer?) n.2988_3019del c.5265_5296del (p.Pro1759AlafsTer?) c.5211_5242del (p.Pro1741AlafsTer?) c.5226_5257del (p.Pro1746AlafsTer?) c.5136_5167del (p.Pro1716AlafsTer?) c.5261_5292del n.3424_3455del c.5334_5365del (p.Pro1782AlafsTer?) n.4155_4186del n.2592_2623del n.2563_2594del n.2453_2484del c.4995_5026del (p.Pro1669AlafsTer?) c.*4507_*4538del (n.*4507_*4538del) c.5031_5062del (p.Pro1681AlafsTer?) n.3063_3094del c.1522_1553del n.2455_2486del c.5394_5425del (p.Pro1802AlafsTer?) c.5391_5422del (p.Pro1801AlafsTer?) c.5283_5314del (p.Pro1765AlafsTer?) c.5262_5293del (p.Pro1758AlafsTer?) c.4608_4639del (p.Pro1540AlafsTer?) c.5556_5587del (p.Pro1856AlafsTer?) c.5304_5335del (p.Pro1772AlafsTer?) c.4050_4081del (p.Pro1354AlafsTer?) | ClinVar dbSNP |
16 | g.2088527C>A | CA394315676 | TSC2 | c.*3690C>A (n.*3690C>A) c.5188C>A (p.Pro1730Thr) c.5338C>A (p.Pro1780Thr) c.*5854C>A (n.*5854C>A) c.*8090C>A (n.*8090C>A) c.5341C>A (p.Pro1781Thr) c.5272C>A (p.Pro1758Thr) c.5140C>A (p.Pro1714Thr) c.5173C>A (p.Pro1725Thr) c.1564C>A n.3223C>A c.3995C>A c.5200C>A (p.Pro1734Thr) n.938C>A c.5143C>A (p.Pro1715Thr) c.5209C>A (p.Pro1737Thr) c.5134C>A (p.Pro1712Thr) n.2989C>A c.5266C>A (p.Pro1756Thr) c.5212C>A (p.Pro1738Thr) c.5227C>A (p.Pro1743Thr) c.5137C>A (p.Pro1713Thr) c.5262C>A n.3425C>A c.5335C>A (p.Pro1779Thr) n.4156C>A n.2593C>A n.2564C>A n.2454C>A c.4996C>A (p.Pro1666Thr) c.*4508C>A (n.*4508C>A) c.5032C>A (p.Pro1678Thr) n.3064C>A c.1523C>A n.2456C>A c.5395C>A (p.Pro1799Thr) c.5392C>A (p.Pro1798Thr) c.5284C>A (p.Pro1762Thr) c.5263C>A (p.Pro1755Thr) c.4609C>A (p.Pro1537Thr) c.5557C>A (p.Pro1853Thr) c.5305C>A (p.Pro1769Thr) c.4051C>A (p.Pro1351Thr) | ClinVar dbSNP |
16 | g.2088527C= | CA2202034016 | TSC2 | c.*3690C= (n.*3690C=) c.5188C= (p.Pro1730=) c.5338C= (p.Pro1780=) c.*5854C= (n.*5854C=) c.*8090C= (n.*8090C=) c.5341C= (p.Pro1781=) c.5272C= (p.Pro1758=) c.5140C= (p.Pro1714=) c.5173C= (p.Pro1725=) c.1564C= n.3223C= c.3995C= c.5200C= (p.Pro1734=) n.938C= c.5143C= (p.Pro1715=) c.5209C= (p.Pro1737=) c.5134C= (p.Pro1712=) n.2989C= c.5266C= (p.Pro1756=) c.5212C= (p.Pro1738=) c.5227C= (p.Pro1743=) c.5137C= (p.Pro1713=) c.5262C= n.3425C= c.5335C= (p.Pro1779=) n.4156C= n.2593C= n.2564C= n.2454C= c.4996C= (p.Pro1666=) c.*4508C= (n.*4508C=) c.5032C= (p.Pro1678=) n.3064C= c.1523C= n.2456C= c.5395C= (p.Pro1799=) c.5392C= (p.Pro1798=) c.5284C= (p.Pro1762=) c.5263C= (p.Pro1755=) c.4609C= (p.Pro1537=) c.5557C= (p.Pro1853=) c.5305C= (p.Pro1769=) c.4051C= (p.Pro1351=) | |
16 | g.2088527C>G | CA394315679 | TSC2 | c.*3690C>G (n.*3690C>G) c.5188C>G (p.Pro1730Ala) c.5338C>G (p.Pro1780Ala) c.*5854C>G (n.*5854C>G) c.*8090C>G (n.*8090C>G) c.5341C>G (p.Pro1781Ala) c.5272C>G (p.Pro1758Ala) c.5140C>G (p.Pro1714Ala) c.5173C>G (p.Pro1725Ala) c.1564C>G n.3223C>G c.3995C>G c.5200C>G (p.Pro1734Ala) n.938C>G c.5143C>G (p.Pro1715Ala) c.5209C>G (p.Pro1737Ala) c.5134C>G (p.Pro1712Ala) n.2989C>G c.5266C>G (p.Pro1756Ala) c.5212C>G (p.Pro1738Ala) c.5227C>G (p.Pro1743Ala) c.5137C>G (p.Pro1713Ala) c.5262C>G n.3425C>G c.5335C>G (p.Pro1779Ala) n.4156C>G n.2593C>G n.2564C>G n.2454C>G c.4996C>G (p.Pro1666Ala) c.*4508C>G (n.*4508C>G) c.5032C>G (p.Pro1678Ala) n.3064C>G c.1523C>G n.2456C>G c.5395C>G (p.Pro1799Ala) c.5392C>G (p.Pro1798Ala) c.5284C>G (p.Pro1762Ala) c.5263C>G (p.Pro1755Ala) c.4609C>G (p.Pro1537Ala) c.5557C>G (p.Pro1853Ala) c.5305C>G (p.Pro1769Ala) c.4051C>G (p.Pro1351Ala) | ClinVar dbSNP |
16 | g.2088527C>T | CA394315682 | TSC2 | c.*3690C>T (n.*3690C>T) c.5188C>T (p.Pro1730Ser) c.5338C>T (p.Pro1780Ser) c.*5854C>T (n.*5854C>T) c.*8090C>T (n.*8090C>T) c.5341C>T (p.Pro1781Ser) c.5272C>T (p.Pro1758Ser) c.5140C>T (p.Pro1714Ser) c.5173C>T (p.Pro1725Ser) c.1564C>T n.3223C>T c.3995C>T c.5200C>T (p.Pro1734Ser) n.938C>T c.5143C>T (p.Pro1715Ser) c.5209C>T (p.Pro1737Ser) c.5134C>T (p.Pro1712Ser) n.2989C>T c.5266C>T (p.Pro1756Ser) c.5212C>T (p.Pro1738Ser) c.5227C>T (p.Pro1743Ser) c.5137C>T (p.Pro1713Ser) c.5262C>T n.3425C>T c.5335C>T (p.Pro1779Ser) n.4156C>T n.2593C>T n.2564C>T n.2454C>T c.4996C>T (p.Pro1666Ser) c.*4508C>T (n.*4508C>T) c.5032C>T (p.Pro1678Ser) n.3064C>T c.1523C>T n.2456C>T c.5395C>T (p.Pro1799Ser) c.5392C>T (p.Pro1798Ser) c.5284C>T (p.Pro1762Ser) c.5263C>T (p.Pro1755Ser) c.4609C>T (p.Pro1537Ser) c.5557C>T (p.Pro1853Ser) c.5305C>T (p.Pro1769Ser) c.4051C>T (p.Pro1351Ser) | |
16 | g.2088528C>A | CA394315685 | TSC2 | c.*3691C>A (n.*3691C>A) c.5189C>A (p.Pro1730Gln) c.5339C>A (p.Pro1780Gln) c.*5855C>A (n.*5855C>A) c.*8091C>A (n.*8091C>A) c.5342C>A (p.Pro1781Gln) c.5273C>A (p.Pro1758Gln) c.5141C>A (p.Pro1714Gln) c.5174C>A (p.Pro1725Gln) c.1565C>A n.3224C>A c.3996C>A c.5201C>A (p.Pro1734Gln) n.939C>A c.5144C>A (p.Pro1715Gln) c.5210C>A (p.Pro1737Gln) c.5135C>A (p.Pro1712Gln) n.2990C>A c.5267C>A (p.Pro1756Gln) c.5213C>A (p.Pro1738Gln) c.5228C>A (p.Pro1743Gln) c.5138C>A (p.Pro1713Gln) c.5263C>A n.3426C>A c.5336C>A (p.Pro1779Gln) n.4157C>A n.2594C>A n.2565C>A n.2455C>A c.4997C>A (p.Pro1666Gln) c.*4509C>A (n.*4509C>A) c.5033C>A (p.Pro1678Gln) n.3065C>A c.1524C>A n.2457C>A c.5396C>A (p.Pro1799Gln) c.5393C>A (p.Pro1798Gln) c.5285C>A (p.Pro1762Gln) c.5264C>A (p.Pro1755Gln) c.4610C>A (p.Pro1537Gln) c.5558C>A (p.Pro1853Gln) c.5306C>A (p.Pro1769Gln) c.4052C>A (p.Pro1351Gln) | |
16 | g.2088528C= | CA2202034022 | TSC2 | c.*3691C= (n.*3691C=) c.5189C= (p.Pro1730=) c.5339C= (p.Pro1780=) c.*5855C= (n.*5855C=) c.*8091C= (n.*8091C=) c.5342C= (p.Pro1781=) c.5273C= (p.Pro1758=) c.5141C= (p.Pro1714=) c.5174C= (p.Pro1725=) c.1565C= n.3224C= c.3996C= c.5201C= (p.Pro1734=) n.939C= c.5144C= (p.Pro1715=) c.5210C= (p.Pro1737=) c.5135C= (p.Pro1712=) n.2990C= c.5267C= (p.Pro1756=) c.5213C= (p.Pro1738=) c.5228C= (p.Pro1743=) c.5138C= (p.Pro1713=) c.5263C= n.3426C= c.5336C= (p.Pro1779=) n.4157C= n.2594C= n.2565C= n.2455C= c.4997C= (p.Pro1666=) c.*4509C= (n.*4509C=) c.5033C= (p.Pro1678=) n.3065C= c.1524C= n.2457C= c.5396C= (p.Pro1799=) c.5393C= (p.Pro1798=) c.5285C= (p.Pro1762=) c.5264C= (p.Pro1755=) c.4610C= (p.Pro1537=) c.5558C= (p.Pro1853=) c.5306C= (p.Pro1769=) c.4052C= (p.Pro1351=) | |
16 | g.2088528C>G | CA394315686 | TSC2 | c.*3691C>G (n.*3691C>G) c.5189C>G (p.Pro1730Arg) c.5339C>G (p.Pro1780Arg) c.*5855C>G (n.*5855C>G) c.*8091C>G (n.*8091C>G) c.5342C>G (p.Pro1781Arg) c.5273C>G (p.Pro1758Arg) c.5141C>G (p.Pro1714Arg) c.5174C>G (p.Pro1725Arg) c.1565C>G n.3224C>G c.3996C>G c.5201C>G (p.Pro1734Arg) n.939C>G c.5144C>G (p.Pro1715Arg) c.5210C>G (p.Pro1737Arg) c.5135C>G (p.Pro1712Arg) n.2990C>G c.5267C>G (p.Pro1756Arg) c.5213C>G (p.Pro1738Arg) c.5228C>G (p.Pro1743Arg) c.5138C>G (p.Pro1713Arg) c.5263C>G n.3426C>G c.5336C>G (p.Pro1779Arg) n.4157C>G n.2594C>G n.2565C>G n.2455C>G c.4997C>G (p.Pro1666Arg) c.*4509C>G (n.*4509C>G) c.5033C>G (p.Pro1678Arg) n.3065C>G c.1524C>G n.2457C>G c.5396C>G (p.Pro1799Arg) c.5393C>G (p.Pro1798Arg) c.5285C>G (p.Pro1762Arg) c.5264C>G (p.Pro1755Arg) c.4610C>G (p.Pro1537Arg) c.5558C>G (p.Pro1853Arg) c.5306C>G (p.Pro1769Arg) c.4052C>G (p.Pro1351Arg) | |
16 | g.2088528C>T | CA10583347 | TSC2 | c.*3691C>T (n.*3691C>T) c.5189C>T (p.Pro1730Leu) c.5339C>T (p.Pro1780Leu) c.*5855C>T (n.*5855C>T) c.*8091C>T (n.*8091C>T) c.5342C>T (p.Pro1781Leu) c.5273C>T (p.Pro1758Leu) c.5141C>T (p.Pro1714Leu) c.5174C>T (p.Pro1725Leu) c.1565C>T n.3224C>T c.3996C>T c.5201C>T (p.Pro1734Leu) n.939C>T c.5144C>T (p.Pro1715Leu) c.5210C>T (p.Pro1737Leu) c.5135C>T (p.Pro1712Leu) n.2990C>T c.5267C>T (p.Pro1756Leu) c.5213C>T (p.Pro1738Leu) c.5228C>T (p.Pro1743Leu) c.5138C>T (p.Pro1713Leu) c.5263C>T n.3426C>T c.5336C>T (p.Pro1779Leu) n.4157C>T n.2594C>T n.2565C>T n.2455C>T c.4997C>T (p.Pro1666Leu) c.*4509C>T (n.*4509C>T) c.5033C>T (p.Pro1678Leu) n.3065C>T c.1524C>T n.2457C>T c.5396C>T (p.Pro1799Leu) c.5393C>T (p.Pro1798Leu) c.5285C>T (p.Pro1762Leu) c.5264C>T (p.Pro1755Leu) c.4610C>T (p.Pro1537Leu) c.5558C>T (p.Pro1853Leu) c.5306C>T (p.Pro1769Leu) c.4052C>T (p.Pro1351Leu) | ClinVar dbSNP gnomAD v4 |
16 | g.2088529A= | CA2202034024 | TSC2 | c.*3692A= (n.*3692A=) c.5190A= (p.Pro1730=) c.5340A= (p.Pro1780=) c.*5856A= (n.*5856A=) c.*8092A= (n.*8092A=) c.5343A= (p.Pro1781=) c.5274A= (p.Pro1758=) c.5142A= (p.Pro1714=) c.5175A= (p.Pro1725=) c.1566A= n.3225A= c.3997A= c.5202A= (p.Pro1734=) n.940A= c.5145A= (p.Pro1715=) c.5211A= (p.Pro1737=) c.5136A= (p.Pro1712=) n.2991A= c.5268A= (p.Pro1756=) c.5214A= (p.Pro1738=) c.5229A= (p.Pro1743=) c.5139A= (p.Pro1713=) c.5264A= n.3427A= c.5337A= (p.Pro1779=) n.4158A= n.2595A= n.2566A= n.2456A= c.4998A= (p.Pro1666=) c.*4510A= (n.*4510A=) c.5034A= (p.Pro1678=) n.3066A= c.1525A= n.2458A= c.5397A= (p.Pro1799=) c.5394A= (p.Pro1798=) c.5286A= (p.Pro1762=) c.5265A= (p.Pro1755=) c.4611A= (p.Pro1537=) c.5559A= (p.Pro1853=) c.5307A= (p.Pro1769=) c.4053A= (p.Pro1351=) | |
16 | g.2088529A>C | CA493043718 | TSC2 | c.*3692A>C (n.*3692A>C) c.5190A>C (p.Pro1730=) c.5340A>C (p.Pro1780=) c.*5856A>C (n.*5856A>C) c.*8092A>C (n.*8092A>C) c.5343A>C (p.Pro1781=) c.5274A>C (p.Pro1758=) c.5142A>C (p.Pro1714=) c.5175A>C (p.Pro1725=) c.1566A>C n.3225A>C c.3997A>C c.5202A>C (p.Pro1734=) n.940A>C c.5145A>C (p.Pro1715=) c.5211A>C (p.Pro1737=) c.5136A>C (p.Pro1712=) n.2991A>C c.5268A>C (p.Pro1756=) c.5214A>C (p.Pro1738=) c.5229A>C (p.Pro1743=) c.5139A>C (p.Pro1713=) c.5264A>C n.3427A>C c.5337A>C (p.Pro1779=) n.4158A>C n.2595A>C n.2566A>C n.2456A>C c.4998A>C (p.Pro1666=) c.*4510A>C (n.*4510A>C) c.5034A>C (p.Pro1678=) n.3066A>C c.1525A>C n.2458A>C c.5397A>C (p.Pro1799=) c.5394A>C (p.Pro1798=) c.5286A>C (p.Pro1762=) c.5265A>C (p.Pro1755=) c.4611A>C (p.Pro1537=) c.5559A>C (p.Pro1853=) c.5307A>C (p.Pro1769=) c.4053A>C (p.Pro1351=) | ClinVar |
16 | g.2088529A>G | CA055170 | TSC2 | c.*3692A>G (n.*3692A>G) c.5190A>G (p.Pro1730=) c.5340A>G (p.Pro1780=) c.*5856A>G (n.*5856A>G) c.*8092A>G (n.*8092A>G) c.5343A>G (p.Pro1781=) c.5274A>G (p.Pro1758=) c.5142A>G (p.Pro1714=) c.5175A>G (p.Pro1725=) c.1566A>G n.3225A>G c.3997A>G c.5202A>G (p.Pro1734=) n.940A>G c.5145A>G (p.Pro1715=) c.5211A>G (p.Pro1737=) c.5136A>G (p.Pro1712=) n.2991A>G c.5268A>G (p.Pro1756=) c.5214A>G (p.Pro1738=) c.5229A>G (p.Pro1743=) c.5139A>G (p.Pro1713=) c.5264A>G n.3427A>G c.5337A>G (p.Pro1779=) n.4158A>G n.2595A>G n.2566A>G n.2456A>G c.4998A>G (p.Pro1666=) c.*4510A>G (n.*4510A>G) c.5034A>G (p.Pro1678=) n.3066A>G c.1525A>G n.2458A>G c.5397A>G (p.Pro1799=) c.5394A>G (p.Pro1798=) c.5286A>G (p.Pro1762=) c.5265A>G (p.Pro1755=) c.4611A>G (p.Pro1537=) c.5559A>G (p.Pro1853=) c.5307A>G (p.Pro1769=) c.4053A>G (p.Pro1351=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2088529A>T | CA493043719 | TSC2 | c.*3692A>T (n.*3692A>T) c.5190A>T (p.Pro1730=) c.5340A>T (p.Pro1780=) c.*5856A>T (n.*5856A>T) c.*8092A>T (n.*8092A>T) c.5343A>T (p.Pro1781=) c.5274A>T (p.Pro1758=) c.5142A>T (p.Pro1714=) c.5175A>T (p.Pro1725=) c.1566A>T n.3225A>T c.3997A>T c.5202A>T (p.Pro1734=) n.940A>T c.5145A>T (p.Pro1715=) c.5211A>T (p.Pro1737=) c.5136A>T (p.Pro1712=) n.2991A>T c.5268A>T (p.Pro1756=) c.5214A>T (p.Pro1738=) c.5229A>T (p.Pro1743=) c.5139A>T (p.Pro1713=) c.5264A>T n.3427A>T c.5337A>T (p.Pro1779=) n.4158A>T n.2595A>T n.2566A>T n.2456A>T c.4998A>T (p.Pro1666=) c.*4510A>T (n.*4510A>T) c.5034A>T (p.Pro1678=) n.3066A>T c.1525A>T n.2458A>T c.5397A>T (p.Pro1799=) c.5394A>T (p.Pro1798=) c.5286A>T (p.Pro1762=) c.5265A>T (p.Pro1755=) c.4611A>T (p.Pro1537=) c.5559A>T (p.Pro1853=) c.5307A>T (p.Pro1769=) c.4053A>T (p.Pro1351=) | dbSNP |
16 | g.2088530del | CA620705135 | TSC2 | c.*3693del (n.*3693del) c.5191del (p.Ala1731ProfsTer?) c.5341del (p.Ala1781ProfsTer?) c.*5857del (n.*5857del) c.*8093del (n.*8093del) c.5344del (p.Ala1782ProfsTer?) c.5275del (p.Ala1759ProfsTer?) c.5143del (p.Ala1715ProfsTer?) c.5176del (p.Ala1726ProfsTer?) c.1567del n.3226del c.3998del c.5203del (p.Ala1735ProfsTer?) n.941del c.5146del (p.Ala1716ProfsTer?) c.5212del (p.Ala1738ProfsTer?) c.5137del (p.Ala1713ProfsTer?) n.2992del c.5269del (p.Ala1757ProfsTer?) c.5215del (p.Ala1739ProfsTer?) c.5230del (p.Ala1744ProfsTer?) c.5140del (p.Ala1714ProfsTer?) c.5265del n.3428del c.5338del (p.Ala1780ProfsTer?) n.4159del n.2596del n.2567del n.2457del c.4999del (p.Ala1667ProfsTer?) c.*4511del (n.*4511del) c.5035del (p.Ala1679ProfsTer?) n.3067del c.1526del n.2459del c.5398del (p.Ala1800ProfsTer?) c.5395del (p.Ala1799ProfsTer?) c.5287del (p.Ala1763ProfsTer?) c.5266del (p.Ala1756ProfsTer?) c.4612del (p.Ala1538ProfsTer?) c.5560del (p.Ala1854ProfsTer?) c.5308del (p.Ala1770ProfsTer?) c.4054del (p.Ala1352ProfsTer?) | gnomAD v2 gnomAD v4 |
16 | g.2088530G>A | CA394315690 | TSC2 | c.*3693G>A (n.*3693G>A) c.5191G>A (p.Ala1731Thr) c.5341G>A (p.Ala1781Thr) c.*5857G>A (n.*5857G>A) c.*8093G>A (n.*8093G>A) c.5344G>A (p.Ala1782Thr) c.5275G>A (p.Ala1759Thr) c.5143G>A (p.Ala1715Thr) c.5176G>A (p.Ala1726Thr) c.1567G>A n.3226G>A c.3998G>A c.5203G>A (p.Ala1735Thr) n.941G>A c.5146G>A (p.Ala1716Thr) c.5212G>A (p.Ala1738Thr) c.5137G>A (p.Ala1713Thr) n.2992G>A c.5269G>A (p.Ala1757Thr) c.5215G>A (p.Ala1739Thr) c.5230G>A (p.Ala1744Thr) c.5140G>A (p.Ala1714Thr) c.5265G>A n.3428G>A c.5338G>A (p.Ala1780Thr) n.4159G>A n.2596G>A n.2567G>A n.2457G>A c.4999G>A (p.Ala1667Thr) c.*4511G>A (n.*4511G>A) c.5035G>A (p.Ala1679Thr) n.3067G>A c.1526G>A n.2459G>A c.5398G>A (p.Ala1800Thr) c.5395G>A (p.Ala1799Thr) c.5287G>A (p.Ala1763Thr) c.5266G>A (p.Ala1756Thr) c.4612G>A (p.Ala1538Thr) c.5560G>A (p.Ala1854Thr) c.5308G>A (p.Ala1770Thr) c.4054G>A (p.Ala1352Thr) | ClinVar dbSNP |
16 | g.2088530G>C | CA394315694 | TSC2 | c.*3693G>C (n.*3693G>C) c.5191G>C (p.Ala1731Pro) c.5341G>C (p.Ala1781Pro) c.*5857G>C (n.*5857G>C) c.*8093G>C (n.*8093G>C) c.5344G>C (p.Ala1782Pro) c.5275G>C (p.Ala1759Pro) c.5143G>C (p.Ala1715Pro) c.5176G>C (p.Ala1726Pro) c.1567G>C n.3226G>C c.3998G>C c.5203G>C (p.Ala1735Pro) n.941G>C c.5146G>C (p.Ala1716Pro) c.5212G>C (p.Ala1738Pro) c.5137G>C (p.Ala1713Pro) n.2992G>C c.5269G>C (p.Ala1757Pro) c.5215G>C (p.Ala1739Pro) c.5230G>C (p.Ala1744Pro) c.5140G>C (p.Ala1714Pro) c.5265G>C n.3428G>C c.5338G>C (p.Ala1780Pro) n.4159G>C n.2596G>C n.2567G>C n.2457G>C c.4999G>C (p.Ala1667Pro) c.*4511G>C (n.*4511G>C) c.5035G>C (p.Ala1679Pro) n.3067G>C c.1526G>C n.2459G>C c.5398G>C (p.Ala1800Pro) c.5395G>C (p.Ala1799Pro) c.5287G>C (p.Ala1763Pro) c.5266G>C (p.Ala1756Pro) c.4612G>C (p.Ala1538Pro) c.5560G>C (p.Ala1854Pro) c.5308G>C (p.Ala1770Pro) c.4054G>C (p.Ala1352Pro) | dbSNP gnomAD v4 |
16 | g.2088530G= | CA2202034030 | TSC2 | c.*3693G= (n.*3693G=) c.5191G= (p.Ala1731=) c.5341G= (p.Ala1781=) c.*5857G= (n.*5857G=) c.*8093G= (n.*8093G=) c.5344G= (p.Ala1782=) c.5275G= (p.Ala1759=) c.5143G= (p.Ala1715=) c.5176G= (p.Ala1726=) c.1567G= n.3226G= c.3998G= c.5203G= (p.Ala1735=) n.941G= c.5146G= (p.Ala1716=) c.5212G= (p.Ala1738=) c.5137G= (p.Ala1713=) n.2992G= c.5269G= (p.Ala1757=) c.5215G= (p.Ala1739=) c.5230G= (p.Ala1744=) c.5140G= (p.Ala1714=) c.5265G= n.3428G= c.5338G= (p.Ala1780=) n.4159G= n.2596G= n.2567G= n.2457G= c.4999G= (p.Ala1667=) c.*4511G= (n.*4511G=) c.5035G= (p.Ala1679=) n.3067G= c.1526G= n.2459G= c.5398G= (p.Ala1800=) c.5395G= (p.Ala1799=) c.5287G= (p.Ala1763=) c.5266G= (p.Ala1756=) c.4612G= (p.Ala1538=) c.5560G= (p.Ala1854=) c.5308G= (p.Ala1770=) c.4054G= (p.Ala1352=) | |
16 | g.2088530G>T | CA394315696 | TSC2 | c.*3693G>T (n.*3693G>T) c.5191G>T (p.Ala1731Ser) c.5341G>T (p.Ala1781Ser) c.*5857G>T (n.*5857G>T) c.*8093G>T (n.*8093G>T) c.5344G>T (p.Ala1782Ser) c.5275G>T (p.Ala1759Ser) c.5143G>T (p.Ala1715Ser) c.5176G>T (p.Ala1726Ser) c.1567G>T n.3226G>T c.3998G>T c.5203G>T (p.Ala1735Ser) n.941G>T c.5146G>T (p.Ala1716Ser) c.5212G>T (p.Ala1738Ser) c.5137G>T (p.Ala1713Ser) n.2992G>T c.5269G>T (p.Ala1757Ser) c.5215G>T (p.Ala1739Ser) c.5230G>T (p.Ala1744Ser) c.5140G>T (p.Ala1714Ser) c.5265G>T n.3428G>T c.5338G>T (p.Ala1780Ser) n.4159G>T n.2596G>T n.2567G>T n.2457G>T c.4999G>T (p.Ala1667Ser) c.*4511G>T (n.*4511G>T) c.5035G>T (p.Ala1679Ser) n.3067G>T c.1526G>T n.2459G>T c.5398G>T (p.Ala1800Ser) c.5395G>T (p.Ala1799Ser) c.5287G>T (p.Ala1763Ser) c.5266G>T (p.Ala1756Ser) c.4612G>T (p.Ala1538Ser) c.5560G>T (p.Ala1854Ser) c.5308G>T (p.Ala1770Ser) c.4054G>T (p.Ala1352Ser) | ClinVar dbSNP gnomAD v4 |
16 | g.2088531C>A | CA394315699 | TSC2 | c.*3694C>A (n.*3694C>A) c.5192C>A (p.Ala1731Asp) c.5342C>A (p.Ala1781Asp) c.*5858C>A (n.*5858C>A) c.*8094C>A (n.*8094C>A) c.5345C>A (p.Ala1782Asp) c.5276C>A (p.Ala1759Asp) c.5144C>A (p.Ala1715Asp) c.5177C>A (p.Ala1726Asp) c.1568C>A n.3227C>A c.3999C>A c.5204C>A (p.Ala1735Asp) n.942C>A c.5147C>A (p.Ala1716Asp) c.5213C>A (p.Ala1738Asp) c.5138C>A (p.Ala1713Asp) n.2993C>A c.5270C>A (p.Ala1757Asp) c.5216C>A (p.Ala1739Asp) c.5231C>A (p.Ala1744Asp) c.5141C>A (p.Ala1714Asp) c.5266C>A n.3429C>A c.5339C>A (p.Ala1780Asp) n.4160C>A n.2597C>A n.2568C>A n.2458C>A c.5000C>A (p.Ala1667Asp) c.*4512C>A (n.*4512C>A) c.5036C>A (p.Ala1679Asp) n.3068C>A c.1527C>A n.2460C>A c.5399C>A (p.Ala1800Asp) c.5396C>A (p.Ala1799Asp) c.5288C>A (p.Ala1763Asp) c.5267C>A (p.Ala1756Asp) c.4613C>A (p.Ala1538Asp) c.5561C>A (p.Ala1854Asp) c.5309C>A (p.Ala1770Asp) c.4055C>A (p.Ala1352Asp) | |
16 | g.2088531C= | CA2202034043 | TSC2 | c.*3694C= (n.*3694C=) c.5192C= (p.Ala1731=) c.5342C= (p.Ala1781=) c.*5858C= (n.*5858C=) c.*8094C= (n.*8094C=) c.5345C= (p.Ala1782=) c.5276C= (p.Ala1759=) c.5144C= (p.Ala1715=) c.5177C= (p.Ala1726=) c.1568C= n.3227C= c.3999C= c.5204C= (p.Ala1735=) n.942C= c.5147C= (p.Ala1716=) c.5213C= (p.Ala1738=) c.5138C= (p.Ala1713=) n.2993C= c.5270C= (p.Ala1757=) c.5216C= (p.Ala1739=) c.5231C= (p.Ala1744=) c.5141C= (p.Ala1714=) c.5266C= n.3429C= c.5339C= (p.Ala1780=) n.4160C= n.2597C= n.2568C= n.2458C= c.5000C= (p.Ala1667=) c.*4512C= (n.*4512C=) c.5036C= (p.Ala1679=) n.3068C= c.1527C= n.2460C= c.5399C= (p.Ala1800=) c.5396C= (p.Ala1799=) c.5288C= (p.Ala1763=) c.5267C= (p.Ala1756=) c.4613C= (p.Ala1538=) c.5561C= (p.Ala1854=) c.5309C= (p.Ala1770=) c.4055C= (p.Ala1352=) | |
16 | g.2088531C>G | CA394315705 | TSC2 | c.*3694C>G (n.*3694C>G) c.5192C>G (p.Ala1731Gly) c.5342C>G (p.Ala1781Gly) c.*5858C>G (n.*5858C>G) c.*8094C>G (n.*8094C>G) c.5345C>G (p.Ala1782Gly) c.5276C>G (p.Ala1759Gly) c.5144C>G (p.Ala1715Gly) c.5177C>G (p.Ala1726Gly) c.1568C>G n.3227C>G c.3999C>G c.5204C>G (p.Ala1735Gly) n.942C>G c.5147C>G (p.Ala1716Gly) c.5213C>G (p.Ala1738Gly) c.5138C>G (p.Ala1713Gly) n.2993C>G c.5270C>G (p.Ala1757Gly) c.5216C>G (p.Ala1739Gly) c.5231C>G (p.Ala1744Gly) c.5141C>G (p.Ala1714Gly) c.5266C>G n.3429C>G c.5339C>G (p.Ala1780Gly) n.4160C>G n.2597C>G n.2568C>G n.2458C>G c.5000C>G (p.Ala1667Gly) c.*4512C>G (n.*4512C>G) c.5036C>G (p.Ala1679Gly) n.3068C>G c.1527C>G n.2460C>G c.5399C>G (p.Ala1800Gly) c.5396C>G (p.Ala1799Gly) c.5288C>G (p.Ala1763Gly) c.5267C>G (p.Ala1756Gly) c.4613C>G (p.Ala1538Gly) c.5561C>G (p.Ala1854Gly) c.5309C>G (p.Ala1770Gly) c.4055C>G (p.Ala1352Gly) | ClinVar dbSNP |
16 | g.2088531C>T | CA394315700 | TSC2 | c.*3694C>T (n.*3694C>T) c.5192C>T (p.Ala1731Val) c.5342C>T (p.Ala1781Val) c.*5858C>T (n.*5858C>T) c.*8094C>T (n.*8094C>T) c.5345C>T (p.Ala1782Val) c.5276C>T (p.Ala1759Val) c.5144C>T (p.Ala1715Val) c.5177C>T (p.Ala1726Val) c.1568C>T n.3227C>T c.3999C>T c.5204C>T (p.Ala1735Val) n.942C>T c.5147C>T (p.Ala1716Val) c.5213C>T (p.Ala1738Val) c.5138C>T (p.Ala1713Val) n.2993C>T c.5270C>T (p.Ala1757Val) c.5216C>T (p.Ala1739Val) c.5231C>T (p.Ala1744Val) c.5141C>T (p.Ala1714Val) c.5266C>T n.3429C>T c.5339C>T (p.Ala1780Val) n.4160C>T n.2597C>T n.2568C>T n.2458C>T c.5000C>T (p.Ala1667Val) c.*4512C>T (n.*4512C>T) c.5036C>T (p.Ala1679Val) n.3068C>T c.1527C>T n.2460C>T c.5399C>T (p.Ala1800Val) c.5396C>T (p.Ala1799Val) c.5288C>T (p.Ala1763Val) c.5267C>T (p.Ala1756Val) c.4613C>T (p.Ala1538Val) c.5561C>T (p.Ala1854Val) c.5309C>T (p.Ala1770Val) c.4055C>T (p.Ala1352Val) | ClinVar dbSNP COSMIC COSMIC |
16 | g.2088532C>A | CA493043720 | TSC2 | c.*3695C>A (n.*3695C>A) c.5193C>A (p.Ala1731=) c.5343C>A (p.Ala1781=) c.*5859C>A (n.*5859C>A) c.*8095C>A (n.*8095C>A) c.5346C>A (p.Ala1782=) c.5277C>A (p.Ala1759=) c.5145C>A (p.Ala1715=) c.5178C>A (p.Ala1726=) c.1569C>A n.3228C>A c.4000C>A c.5205C>A (p.Ala1735=) n.943C>A c.5148C>A (p.Ala1716=) c.5214C>A (p.Ala1738=) c.5139C>A (p.Ala1713=) n.2994C>A c.5271C>A (p.Ala1757=) c.5217C>A (p.Ala1739=) c.5232C>A (p.Ala1744=) c.5142C>A (p.Ala1714=) c.5267C>A n.3430C>A c.5340C>A (p.Ala1780=) n.4161C>A n.2598C>A n.2569C>A n.2459C>A c.5001C>A (p.Ala1667=) c.*4513C>A (n.*4513C>A) c.5037C>A (p.Ala1679=) n.3069C>A c.1528C>A n.2461C>A c.5400C>A (p.Ala1800=) c.5397C>A (p.Ala1799=) c.5289C>A (p.Ala1763=) c.5268C>A (p.Ala1756=) c.4614C>A (p.Ala1538=) c.5562C>A (p.Ala1854=) c.5310C>A (p.Ala1770=) c.4056C>A (p.Ala1352=) | ClinVar dbSNP gnomAD v4 |
16 | g.2088532C= | CA2202034051 | TSC2 | c.*3695C= (n.*3695C=) c.5193C= (p.Ala1731=) c.5343C= (p.Ala1781=) c.*5859C= (n.*5859C=) c.*8095C= (n.*8095C=) c.5346C= (p.Ala1782=) c.5277C= (p.Ala1759=) c.5145C= (p.Ala1715=) c.5178C= (p.Ala1726=) c.1569C= n.3228C= c.4000C= c.5205C= (p.Ala1735=) n.943C= c.5148C= (p.Ala1716=) c.5214C= (p.Ala1738=) c.5139C= (p.Ala1713=) n.2994C= c.5271C= (p.Ala1757=) c.5217C= (p.Ala1739=) c.5232C= (p.Ala1744=) c.5142C= (p.Ala1714=) c.5267C= n.3430C= c.5340C= (p.Ala1780=) n.4161C= n.2598C= n.2569C= n.2459C= c.5001C= (p.Ala1667=) c.*4513C= (n.*4513C=) c.5037C= (p.Ala1679=) n.3069C= c.1528C= n.2461C= c.5400C= (p.Ala1800=) c.5397C= (p.Ala1799=) c.5289C= (p.Ala1763=) c.5268C= (p.Ala1756=) c.4614C= (p.Ala1538=) c.5562C= (p.Ala1854=) c.5310C= (p.Ala1770=) c.4056C= (p.Ala1352=) | |
16 | g.2088532C>G | CA493043721 | TSC2 | c.*3695C>G (n.*3695C>G) c.5193C>G (p.Ala1731=) c.5343C>G (p.Ala1781=) c.*5859C>G (n.*5859C>G) c.*8095C>G (n.*8095C>G) c.5346C>G (p.Ala1782=) c.5277C>G (p.Ala1759=) c.5145C>G (p.Ala1715=) c.5178C>G (p.Ala1726=) c.1569C>G n.3228C>G c.4000C>G c.5205C>G (p.Ala1735=) n.943C>G c.5148C>G (p.Ala1716=) c.5214C>G (p.Ala1738=) c.5139C>G (p.Ala1713=) n.2994C>G c.5271C>G (p.Ala1757=) c.5217C>G (p.Ala1739=) c.5232C>G (p.Ala1744=) c.5142C>G (p.Ala1714=) c.5267C>G n.3430C>G c.5340C>G (p.Ala1780=) n.4161C>G n.2598C>G n.2569C>G n.2459C>G c.5001C>G (p.Ala1667=) c.*4513C>G (n.*4513C>G) c.5037C>G (p.Ala1679=) n.3069C>G c.1528C>G n.2461C>G c.5400C>G (p.Ala1800=) c.5397C>G (p.Ala1799=) c.5289C>G (p.Ala1763=) c.5268C>G (p.Ala1756=) c.4614C>G (p.Ala1538=) c.5562C>G (p.Ala1854=) c.5310C>G (p.Ala1770=) c.4056C>G (p.Ala1352=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088532C>T | CA055178 | TSC2 | c.*3695C>T (n.*3695C>T) c.5193C>T (p.Ala1731=) c.5343C>T (p.Ala1781=) c.*5859C>T (n.*5859C>T) c.*8095C>T (n.*8095C>T) c.5346C>T (p.Ala1782=) c.5277C>T (p.Ala1759=) c.5145C>T (p.Ala1715=) c.5178C>T (p.Ala1726=) c.1569C>T n.3228C>T c.4000C>T c.5205C>T (p.Ala1735=) n.943C>T c.5148C>T (p.Ala1716=) c.5214C>T (p.Ala1738=) c.5139C>T (p.Ala1713=) n.2994C>T c.5271C>T (p.Ala1757=) c.5217C>T (p.Ala1739=) c.5232C>T (p.Ala1744=) c.5142C>T (p.Ala1714=) c.5267C>T n.3430C>T c.5340C>T (p.Ala1780=) n.4161C>T n.2598C>T n.2569C>T n.2459C>T c.5001C>T (p.Ala1667=) c.*4513C>T (n.*4513C>T) c.5037C>T (p.Ala1679=) n.3069C>T c.1528C>T n.2461C>T c.5400C>T (p.Ala1800=) c.5397C>T (p.Ala1799=) c.5289C>T (p.Ala1763=) c.5268C>T (p.Ala1756=) c.4614C>T (p.Ala1538=) c.5562C>T (p.Ala1854=) c.5310C>T (p.Ala1770=) c.4056C>T (p.Ala1352=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
16 | g.2088533G>A | CA055186 | TSC2 | c.*3696G>A (n.*3696G>A) c.5194G>A (p.Glu1732Lys) c.5344G>A (p.Glu1782Lys) c.*5860G>A (n.*5860G>A) c.*8096G>A (n.*8096G>A) c.5347G>A (p.Glu1783Lys) c.5278G>A (p.Glu1760Lys) c.5146G>A (p.Glu1716Lys) c.5179G>A (p.Glu1727Lys) c.1570G>A n.3229G>A c.4001G>A c.5206G>A (p.Glu1736Lys) n.944G>A c.5149G>A (p.Glu1717Lys) c.5215G>A (p.Glu1739Lys) c.5140G>A (p.Glu1714Lys) n.2995G>A c.5272G>A (p.Glu1758Lys) c.5218G>A (p.Glu1740Lys) c.5233G>A (p.Glu1745Lys) c.5143G>A (p.Glu1715Lys) c.5268G>A n.3431G>A c.5341G>A (p.Glu1781Lys) n.4162G>A n.2599G>A n.2570G>A n.2460G>A c.5002G>A (p.Glu1668Lys) c.*4514G>A (n.*4514G>A) c.5038G>A (p.Glu1680Lys) n.3070G>A c.1529G>A n.2462G>A c.5401G>A (p.Glu1801Lys) c.5398G>A (p.Glu1800Lys) c.5290G>A (p.Glu1764Lys) c.5269G>A (p.Glu1757Lys) c.4615G>A (p.Glu1539Lys) c.5563G>A (p.Glu1855Lys) c.5311G>A (p.Glu1771Lys) c.4057G>A (p.Glu1353Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088533G>C | CA394315713 | TSC2 | c.*3696G>C (n.*3696G>C) c.5194G>C (p.Glu1732Gln) c.5344G>C (p.Glu1782Gln) c.*5860G>C (n.*5860G>C) c.*8096G>C (n.*8096G>C) c.5347G>C (p.Glu1783Gln) c.5278G>C (p.Glu1760Gln) c.5146G>C (p.Glu1716Gln) c.5179G>C (p.Glu1727Gln) c.1570G>C n.3229G>C c.4001G>C c.5206G>C (p.Glu1736Gln) n.944G>C c.5149G>C (p.Glu1717Gln) c.5215G>C (p.Glu1739Gln) c.5140G>C (p.Glu1714Gln) n.2995G>C c.5272G>C (p.Glu1758Gln) c.5218G>C (p.Glu1740Gln) c.5233G>C (p.Glu1745Gln) c.5143G>C (p.Glu1715Gln) c.5268G>C n.3431G>C c.5341G>C (p.Glu1781Gln) n.4162G>C n.2599G>C n.2570G>C n.2460G>C c.5002G>C (p.Glu1668Gln) c.*4514G>C (n.*4514G>C) c.5038G>C (p.Glu1680Gln) n.3070G>C c.1529G>C n.2462G>C c.5401G>C (p.Glu1801Gln) c.5398G>C (p.Glu1800Gln) c.5290G>C (p.Glu1764Gln) c.5269G>C (p.Glu1757Gln) c.4615G>C (p.Glu1539Gln) c.5563G>C (p.Glu1855Gln) c.5311G>C (p.Glu1771Gln) c.4057G>C (p.Glu1353Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088533G= | CA2202034064 | TSC2 | c.*3696G= (n.*3696G=) c.5194G= (p.Glu1732=) c.5344G= (p.Glu1782=) c.*5860G= (n.*5860G=) c.*8096G= (n.*8096G=) c.5347G= (p.Glu1783=) c.5278G= (p.Glu1760=) c.5146G= (p.Glu1716=) c.5179G= (p.Glu1727=) c.1570G= n.3229G= c.4001G= c.5206G= (p.Glu1736=) n.944G= c.5149G= (p.Glu1717=) c.5215G= (p.Glu1739=) c.5140G= (p.Glu1714=) n.2995G= c.5272G= (p.Glu1758=) c.5218G= (p.Glu1740=) c.5233G= (p.Glu1745=) c.5143G= (p.Glu1715=) c.5268G= n.3431G= c.5341G= (p.Glu1781=) n.4162G= n.2599G= n.2570G= n.2460G= c.5002G= (p.Glu1668=) c.*4514G= (n.*4514G=) c.5038G= (p.Glu1680=) n.3070G= c.1529G= n.2462G= c.5401G= (p.Glu1801=) c.5398G= (p.Glu1800=) c.5290G= (p.Glu1764=) c.5269G= (p.Glu1757=) c.4615G= (p.Glu1539=) c.5563G= (p.Glu1855=) c.5311G= (p.Glu1771=) c.4057G= (p.Glu1353=) | |
16 | g.2088533G>T | CA394315717 | TSC2 | c.*3696G>T (n.*3696G>T) c.5194G>T (p.Glu1732Ter) c.5344G>T (p.Glu1782Ter) c.*5860G>T (n.*5860G>T) c.*8096G>T (n.*8096G>T) c.5347G>T (p.Glu1783Ter) c.5278G>T (p.Glu1760Ter) c.5146G>T (p.Glu1716Ter) c.5179G>T (p.Glu1727Ter) c.1570G>T n.3229G>T c.4001G>T c.5206G>T (p.Glu1736Ter) n.944G>T c.5149G>T (p.Glu1717Ter) c.5215G>T (p.Glu1739Ter) c.5140G>T (p.Glu1714Ter) n.2995G>T c.5272G>T (p.Glu1758Ter) c.5218G>T (p.Glu1740Ter) c.5233G>T (p.Glu1745Ter) c.5143G>T (p.Glu1715Ter) c.5268G>T n.3431G>T c.5341G>T (p.Glu1781Ter) n.4162G>T n.2599G>T n.2570G>T n.2460G>T c.5002G>T (p.Glu1668Ter) c.*4514G>T (n.*4514G>T) c.5038G>T (p.Glu1680Ter) n.3070G>T c.1529G>T n.2462G>T c.5401G>T (p.Glu1801Ter) c.5398G>T (p.Glu1800Ter) c.5290G>T (p.Glu1764Ter) c.5269G>T (p.Glu1757Ter) c.4615G>T (p.Glu1539Ter) c.5563G>T (p.Glu1855Ter) c.5311G>T (p.Glu1771Ter) c.4057G>T (p.Glu1353Ter) | ClinVar dbSNP gnomAD v4 |
16 | g.2088534A= | CA2202034073 | TSC2 | c.*3697A= (n.*3697A=) c.5195A= (p.Glu1732=) c.5345A= (p.Glu1782=) c.*5861A= (n.*5861A=) c.*8097A= (n.*8097A=) c.5348A= (p.Glu1783=) c.5279A= (p.Glu1760=) c.5147A= (p.Glu1716=) c.5180A= (p.Glu1727=) c.1571A= n.3230A= c.4002A= c.5207A= (p.Glu1736=) n.945A= c.5150A= (p.Glu1717=) c.5216A= (p.Glu1739=) c.5141A= (p.Glu1714=) n.2996A= c.5273A= (p.Glu1758=) c.5219A= (p.Glu1740=) c.5234A= (p.Glu1745=) c.5144A= (p.Glu1715=) c.5269A= n.3432A= c.5342A= (p.Glu1781=) n.4163A= n.2600A= n.2571A= n.2461A= c.5003A= (p.Glu1668=) c.*4515A= (n.*4515A=) c.5039A= (p.Glu1680=) n.3071A= c.1530A= n.2463A= c.5402A= (p.Glu1801=) c.5399A= (p.Glu1800=) c.5291A= (p.Glu1764=) c.5270A= (p.Glu1757=) c.4616A= (p.Glu1539=) c.5564A= (p.Glu1855=) c.5312A= (p.Glu1771=) c.4058A= (p.Glu1353=) | |
16 | g.2088534A>C | CA394315721 | TSC2 | c.*3697A>C (n.*3697A>C) c.5195A>C (p.Glu1732Ala) c.5345A>C (p.Glu1782Ala) c.*5861A>C (n.*5861A>C) c.*8097A>C (n.*8097A>C) c.5348A>C (p.Glu1783Ala) c.5279A>C (p.Glu1760Ala) c.5147A>C (p.Glu1716Ala) c.5180A>C (p.Glu1727Ala) c.1571A>C n.3230A>C c.4002A>C c.5207A>C (p.Glu1736Ala) n.945A>C c.5150A>C (p.Glu1717Ala) c.5216A>C (p.Glu1739Ala) c.5141A>C (p.Glu1714Ala) n.2996A>C c.5273A>C (p.Glu1758Ala) c.5219A>C (p.Glu1740Ala) c.5234A>C (p.Glu1745Ala) c.5144A>C (p.Glu1715Ala) c.5269A>C n.3432A>C c.5342A>C (p.Glu1781Ala) n.4163A>C n.2600A>C n.2571A>C n.2461A>C c.5003A>C (p.Glu1668Ala) c.*4515A>C (n.*4515A>C) c.5039A>C (p.Glu1680Ala) n.3071A>C c.1530A>C n.2463A>C c.5402A>C (p.Glu1801Ala) c.5399A>C (p.Glu1800Ala) c.5291A>C (p.Glu1764Ala) c.5270A>C (p.Glu1757Ala) c.4616A>C (p.Glu1539Ala) c.5564A>C (p.Glu1855Ala) c.5312A>C (p.Glu1771Ala) c.4058A>C (p.Glu1353Ala) | ClinVar |
16 | g.2088534A>G | CA394315724 | TSC2 | c.*3697A>G (n.*3697A>G) c.5195A>G (p.Glu1732Gly) c.5345A>G (p.Glu1782Gly) c.*5861A>G (n.*5861A>G) c.*8097A>G (n.*8097A>G) c.5348A>G (p.Glu1783Gly) c.5279A>G (p.Glu1760Gly) c.5147A>G (p.Glu1716Gly) c.5180A>G (p.Glu1727Gly) c.1571A>G n.3230A>G c.4002A>G c.5207A>G (p.Glu1736Gly) n.945A>G c.5150A>G (p.Glu1717Gly) c.5216A>G (p.Glu1739Gly) c.5141A>G (p.Glu1714Gly) n.2996A>G c.5273A>G (p.Glu1758Gly) c.5219A>G (p.Glu1740Gly) c.5234A>G (p.Glu1745Gly) c.5144A>G (p.Glu1715Gly) c.5269A>G n.3432A>G c.5342A>G (p.Glu1781Gly) n.4163A>G n.2600A>G n.2571A>G n.2461A>G c.5003A>G (p.Glu1668Gly) c.*4515A>G (n.*4515A>G) c.5039A>G (p.Glu1680Gly) n.3071A>G c.1530A>G n.2463A>G c.5402A>G (p.Glu1801Gly) c.5399A>G (p.Glu1800Gly) c.5291A>G (p.Glu1764Gly) c.5270A>G (p.Glu1757Gly) c.4616A>G (p.Glu1539Gly) c.5564A>G (p.Glu1855Gly) c.5312A>G (p.Glu1771Gly) c.4058A>G (p.Glu1353Gly) | ClinVar dbSNP |
16 | g.2088534A>T | CA394315727 | TSC2 | c.*3697A>T (n.*3697A>T) c.5195A>T (p.Glu1732Val) c.5345A>T (p.Glu1782Val) c.*5861A>T (n.*5861A>T) c.*8097A>T (n.*8097A>T) c.5348A>T (p.Glu1783Val) c.5279A>T (p.Glu1760Val) c.5147A>T (p.Glu1716Val) c.5180A>T (p.Glu1727Val) c.1571A>T n.3230A>T c.4002A>T c.5207A>T (p.Glu1736Val) n.945A>T c.5150A>T (p.Glu1717Val) c.5216A>T (p.Glu1739Val) c.5141A>T (p.Glu1714Val) n.2996A>T c.5273A>T (p.Glu1758Val) c.5219A>T (p.Glu1740Val) c.5234A>T (p.Glu1745Val) c.5144A>T (p.Glu1715Val) c.5269A>T n.3432A>T c.5342A>T (p.Glu1781Val) n.4163A>T n.2600A>T n.2571A>T n.2461A>T c.5003A>T (p.Glu1668Val) c.*4515A>T (n.*4515A>T) c.5039A>T (p.Glu1680Val) n.3071A>T c.1530A>T n.2463A>T c.5402A>T (p.Glu1801Val) c.5399A>T (p.Glu1800Val) c.5291A>T (p.Glu1764Val) c.5270A>T (p.Glu1757Val) c.4616A>T (p.Glu1539Val) c.5564A>T (p.Glu1855Val) c.5312A>T (p.Glu1771Val) c.4058A>T (p.Glu1353Val) | |
16 | g.2088535G>A | CA493043722 | TSC2 | c.*3698G>A (n.*3698G>A) c.5196G>A (p.Glu1732=) c.5346G>A (p.Glu1782=) c.*5862G>A (n.*5862G>A) c.*8098G>A (n.*8098G>A) c.5349G>A (p.Glu1783=) c.5280G>A (p.Glu1760=) c.5148G>A (p.Glu1716=) c.5181G>A (p.Glu1727=) c.1572G>A n.3231G>A c.4003G>A c.5208G>A (p.Glu1736=) n.946G>A c.5151G>A (p.Glu1717=) c.5217G>A (p.Glu1739=) c.5142G>A (p.Glu1714=) n.2997G>A c.5274G>A (p.Glu1758=) c.5220G>A (p.Glu1740=) c.5235G>A (p.Glu1745=) c.5145G>A (p.Glu1715=) c.5270G>A n.3433G>A c.5343G>A (p.Glu1781=) n.4164G>A n.2601G>A n.2572G>A n.2462G>A c.5004G>A (p.Glu1668=) c.*4516G>A (n.*4516G>A) c.5040G>A (p.Glu1680=) n.3072G>A c.1531G>A n.2464G>A c.5403G>A (p.Glu1801=) c.5400G>A (p.Glu1800=) c.5292G>A (p.Glu1764=) c.5271G>A (p.Glu1757=) c.4617G>A (p.Glu1539=) c.5565G>A (p.Glu1855=) c.5313G>A (p.Glu1771=) c.4059G>A (p.Glu1353=) | ClinVar dbSNP |
16 | g.2088535G>C | CA394315730 | TSC2 | c.*3698G>C (n.*3698G>C) c.5196G>C (p.Glu1732Asp) c.5346G>C (p.Glu1782Asp) c.*5862G>C (n.*5862G>C) c.*8098G>C (n.*8098G>C) c.5349G>C (p.Glu1783Asp) c.5280G>C (p.Glu1760Asp) c.5148G>C (p.Glu1716Asp) c.5181G>C (p.Glu1727Asp) c.1572G>C n.3231G>C c.4003G>C c.5208G>C (p.Glu1736Asp) n.946G>C c.5151G>C (p.Glu1717Asp) c.5217G>C (p.Glu1739Asp) c.5142G>C (p.Glu1714Asp) n.2997G>C c.5274G>C (p.Glu1758Asp) c.5220G>C (p.Glu1740Asp) c.5235G>C (p.Glu1745Asp) c.5145G>C (p.Glu1715Asp) c.5270G>C n.3433G>C c.5343G>C (p.Glu1781Asp) n.4164G>C n.2601G>C n.2572G>C n.2462G>C c.5004G>C (p.Glu1668Asp) c.*4516G>C (n.*4516G>C) c.5040G>C (p.Glu1680Asp) n.3072G>C c.1531G>C n.2464G>C c.5403G>C (p.Glu1801Asp) c.5400G>C (p.Glu1800Asp) c.5292G>C (p.Glu1764Asp) c.5271G>C (p.Glu1757Asp) c.4617G>C (p.Glu1539Asp) c.5565G>C (p.Glu1855Asp) c.5313G>C (p.Glu1771Asp) c.4059G>C (p.Glu1353Asp) | |
16 | g.2088535G= | CA2202034081 | TSC2 | c.*3698G= (n.*3698G=) c.5196G= (p.Glu1732=) c.5346G= (p.Glu1782=) c.*5862G= (n.*5862G=) c.*8098G= (n.*8098G=) c.5349G= (p.Glu1783=) c.5280G= (p.Glu1760=) c.5148G= (p.Glu1716=) c.5181G= (p.Glu1727=) c.1572G= n.3231G= c.4003G= c.5208G= (p.Glu1736=) n.946G= c.5151G= (p.Glu1717=) c.5217G= (p.Glu1739=) c.5142G= (p.Glu1714=) n.2997G= c.5274G= (p.Glu1758=) c.5220G= (p.Glu1740=) c.5235G= (p.Glu1745=) c.5145G= (p.Glu1715=) c.5270G= n.3433G= c.5343G= (p.Glu1781=) n.4164G= n.2601G= n.2572G= n.2462G= c.5004G= (p.Glu1668=) c.*4516G= (n.*4516G=) c.5040G= (p.Glu1680=) n.3072G= c.1531G= n.2464G= c.5403G= (p.Glu1801=) c.5400G= (p.Glu1800=) c.5292G= (p.Glu1764=) c.5271G= (p.Glu1757=) c.4617G= (p.Glu1539=) c.5565G= (p.Glu1855=) c.5313G= (p.Glu1771=) c.4059G= (p.Glu1353=) | |
16 | g.2088535G>T | CA394315728 | TSC2 | c.*3698G>T (n.*3698G>T) c.5196G>T (p.Glu1732Asp) c.5346G>T (p.Glu1782Asp) c.*5862G>T (n.*5862G>T) c.*8098G>T (n.*8098G>T) c.5349G>T (p.Glu1783Asp) c.5280G>T (p.Glu1760Asp) c.5148G>T (p.Glu1716Asp) c.5181G>T (p.Glu1727Asp) c.1572G>T n.3231G>T c.4003G>T c.5208G>T (p.Glu1736Asp) n.946G>T c.5151G>T (p.Glu1717Asp) c.5217G>T (p.Glu1739Asp) c.5142G>T (p.Glu1714Asp) n.2997G>T c.5274G>T (p.Glu1758Asp) c.5220G>T (p.Glu1740Asp) c.5235G>T (p.Glu1745Asp) c.5145G>T (p.Glu1715Asp) c.5270G>T n.3433G>T c.5343G>T (p.Glu1781Asp) n.4164G>T n.2601G>T n.2572G>T n.2462G>T c.5004G>T (p.Glu1668Asp) c.*4516G>T (n.*4516G>T) c.5040G>T (p.Glu1680Asp) n.3072G>T c.1531G>T n.2464G>T c.5403G>T (p.Glu1801Asp) c.5400G>T (p.Glu1800Asp) c.5292G>T (p.Glu1764Asp) c.5271G>T (p.Glu1757Asp) c.4617G>T (p.Glu1539Asp) c.5565G>T (p.Glu1855Asp) c.5313G>T (p.Glu1771Asp) c.4059G>T (p.Glu1353Asp) | ClinVar |
16 | g.2088535_2088536insA | CA620705136 | TSC2 | c.*3698_*3699insA (n.*3698_*3699insA) c.5196_5197insA (p.Pro1733ThrfsTer6) c.5346_5347insA (p.Pro1783ThrfsTer6) c.*5862_*5863insA (n.*5862_*5863insA) c.*8098_*8099insA (n.*8098_*8099insA) c.5349_5350insA (p.Pro1784ThrfsTer6) c.5280_5281insA (p.Pro1761ThrfsTer6) c.5148_5149insA (p.Pro1717ThrfsTer6) c.5181_5182insA (p.Pro1728ThrfsTer6) c.1572_1573insA n.3231_3232insA c.4003_4004insA c.5208_5209insA (p.Pro1737ThrfsTer6) n.946_947insA c.5151_5152insA (p.Pro1718ThrfsTer6) c.5217_5218insA (p.Pro1740ThrfsTer6) c.5142_5143insA (p.Pro1715ThrfsTer6) n.2997_2998insA c.5274_5275insA (p.Pro1759ThrfsTer6) c.5220_5221insA (p.Pro1741ThrfsTer6) c.5235_5236insA (p.Pro1746ThrfsTer6) c.5145_5146insA (p.Pro1716ThrfsTer6) c.5270_5271insA n.3433_3434insA c.5343_5344insA (p.Pro1782ThrfsTer6) n.4164_4165insA n.2601_2602insA n.2572_2573insA n.2462_2463insA c.5004_5005insA (p.Pro1669ThrfsTer6) c.*4516_*4517insA (n.*4516_*4517insA) c.5040_5041insA (p.Pro1681ThrfsTer6) n.3072_3073insA c.1531_1532insA n.2464_2465insA c.5403_5404insA (p.Pro1802ThrfsTer6) c.5400_5401insA (p.Pro1801ThrfsTer6) c.5292_5293insA (p.Pro1765ThrfsTer6) c.5271_5272insA (p.Pro1758ThrfsTer6) c.4617_4618insA (p.Pro1540ThrfsTer6) c.5565_5566insA (p.Pro1856ThrfsTer6) c.5313_5314insA (p.Pro1772ThrfsTer6) c.4059_4060insA (p.Pro1354ThrfsTer6) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088536C>A | CA394315734 | TSC2 | c.*3699C>A (n.*3699C>A) c.5197C>A (p.Pro1733Thr) c.5347C>A (p.Pro1783Thr) c.*5863C>A (n.*5863C>A) c.*8099C>A (n.*8099C>A) c.5350C>A (p.Pro1784Thr) c.5281C>A (p.Pro1761Thr) c.5149C>A (p.Pro1717Thr) c.5182C>A (p.Pro1728Thr) c.1573C>A n.3232C>A c.4004C>A c.5209C>A (p.Pro1737Thr) n.947C>A c.5152C>A (p.Pro1718Thr) c.5218C>A (p.Pro1740Thr) c.5143C>A (p.Pro1715Thr) n.2998C>A c.5275C>A (p.Pro1759Thr) c.5221C>A (p.Pro1741Thr) c.5236C>A (p.Pro1746Thr) c.5146C>A (p.Pro1716Thr) c.5271C>A n.3434C>A c.5344C>A (p.Pro1782Thr) n.4165C>A n.2602C>A n.2573C>A n.2463C>A c.5005C>A (p.Pro1669Thr) c.*4517C>A (n.*4517C>A) c.5041C>A (p.Pro1681Thr) n.3073C>A c.1532C>A n.2465C>A c.5404C>A (p.Pro1802Thr) c.5401C>A (p.Pro1801Thr) c.5293C>A (p.Pro1765Thr) c.5272C>A (p.Pro1758Thr) c.4618C>A (p.Pro1540Thr) c.5566C>A (p.Pro1856Thr) c.5314C>A (p.Pro1772Thr) c.4060C>A (p.Pro1354Thr) | dbSNP |
16 | g.2088536C= | CA2202034089 | TSC2 | c.*3699C= (n.*3699C=) c.5197C= (p.Pro1733=) c.5347C= (p.Pro1783=) c.*5863C= (n.*5863C=) c.*8099C= (n.*8099C=) c.5350C= (p.Pro1784=) c.5281C= (p.Pro1761=) c.5149C= (p.Pro1717=) c.5182C= (p.Pro1728=) c.1573C= n.3232C= c.4004C= c.5209C= (p.Pro1737=) n.947C= c.5152C= (p.Pro1718=) c.5218C= (p.Pro1740=) c.5143C= (p.Pro1715=) n.2998C= c.5275C= (p.Pro1759=) c.5221C= (p.Pro1741=) c.5236C= (p.Pro1746=) c.5146C= (p.Pro1716=) c.5271C= n.3434C= c.5344C= (p.Pro1782=) n.4165C= n.2602C= n.2573C= n.2463C= c.5005C= (p.Pro1669=) c.*4517C= (n.*4517C=) c.5041C= (p.Pro1681=) n.3073C= c.1532C= n.2465C= c.5404C= (p.Pro1802=) c.5401C= (p.Pro1801=) c.5293C= (p.Pro1765=) c.5272C= (p.Pro1758=) c.4618C= (p.Pro1540=) c.5566C= (p.Pro1856=) c.5314C= (p.Pro1772=) c.4060C= (p.Pro1354=) | |
16 | g.2088536C>G | CA394315736 | TSC2 | c.*3699C>G (n.*3699C>G) c.5197C>G (p.Pro1733Ala) c.5347C>G (p.Pro1783Ala) c.*5863C>G (n.*5863C>G) c.*8099C>G (n.*8099C>G) c.5350C>G (p.Pro1784Ala) c.5281C>G (p.Pro1761Ala) c.5149C>G (p.Pro1717Ala) c.5182C>G (p.Pro1728Ala) c.1573C>G n.3232C>G c.4004C>G c.5209C>G (p.Pro1737Ala) n.947C>G c.5152C>G (p.Pro1718Ala) c.5218C>G (p.Pro1740Ala) c.5143C>G (p.Pro1715Ala) n.2998C>G c.5275C>G (p.Pro1759Ala) c.5221C>G (p.Pro1741Ala) c.5236C>G (p.Pro1746Ala) c.5146C>G (p.Pro1716Ala) c.5271C>G n.3434C>G c.5344C>G (p.Pro1782Ala) n.4165C>G n.2602C>G n.2573C>G n.2463C>G c.5005C>G (p.Pro1669Ala) c.*4517C>G (n.*4517C>G) c.5041C>G (p.Pro1681Ala) n.3073C>G c.1532C>G n.2465C>G c.5404C>G (p.Pro1802Ala) c.5401C>G (p.Pro1801Ala) c.5293C>G (p.Pro1765Ala) c.5272C>G (p.Pro1758Ala) c.4618C>G (p.Pro1540Ala) c.5566C>G (p.Pro1856Ala) c.5314C>G (p.Pro1772Ala) c.4060C>G (p.Pro1354Ala) | |
16 | g.2088536C>T | CA394315737 | TSC2 | c.*3699C>T (n.*3699C>T) c.5197C>T (p.Pro1733Ser) c.5347C>T (p.Pro1783Ser) c.*5863C>T (n.*5863C>T) c.*8099C>T (n.*8099C>T) c.5350C>T (p.Pro1784Ser) c.5281C>T (p.Pro1761Ser) c.5149C>T (p.Pro1717Ser) c.5182C>T (p.Pro1728Ser) c.1573C>T n.3232C>T c.4004C>T c.5209C>T (p.Pro1737Ser) n.947C>T c.5152C>T (p.Pro1718Ser) c.5218C>T (p.Pro1740Ser) c.5143C>T (p.Pro1715Ser) n.2998C>T c.5275C>T (p.Pro1759Ser) c.5221C>T (p.Pro1741Ser) c.5236C>T (p.Pro1746Ser) c.5146C>T (p.Pro1716Ser) c.5271C>T n.3434C>T c.5344C>T (p.Pro1782Ser) n.4165C>T n.2602C>T n.2573C>T n.2463C>T c.5005C>T (p.Pro1669Ser) c.*4517C>T (n.*4517C>T) c.5041C>T (p.Pro1681Ser) n.3073C>T c.1532C>T n.2465C>T c.5404C>T (p.Pro1802Ser) c.5401C>T (p.Pro1801Ser) c.5293C>T (p.Pro1765Ser) c.5272C>T (p.Pro1758Ser) c.4618C>T (p.Pro1540Ser) c.5566C>T (p.Pro1856Ser) c.5314C>T (p.Pro1772Ser) c.4060C>T (p.Pro1354Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088537C>A | CA394315740 | TSC2 | c.*3700C>A (n.*3700C>A) c.5198C>A (p.Pro1733His) c.5348C>A (p.Pro1783His) c.*5864C>A (n.*5864C>A) c.*8100C>A (n.*8100C>A) c.5351C>A (p.Pro1784His) c.5282C>A (p.Pro1761His) c.5150C>A (p.Pro1717His) c.5183C>A (p.Pro1728His) c.1574C>A n.3233C>A c.4005C>A c.5210C>A (p.Pro1737His) n.948C>A c.5153C>A (p.Pro1718His) c.5219C>A (p.Pro1740His) c.5144C>A (p.Pro1715His) n.2999C>A c.5276C>A (p.Pro1759His) c.5222C>A (p.Pro1741His) c.5237C>A (p.Pro1746His) c.5147C>A (p.Pro1716His) c.5272C>A n.3435C>A c.5345C>A (p.Pro1782His) n.4166C>A n.2603C>A n.2574C>A n.2464C>A c.5006C>A (p.Pro1669His) c.*4518C>A (n.*4518C>A) c.5042C>A (p.Pro1681His) n.3074C>A c.1533C>A n.2466C>A c.5405C>A (p.Pro1802His) c.5402C>A (p.Pro1801His) c.5294C>A (p.Pro1765His) c.5273C>A (p.Pro1758His) c.4619C>A (p.Pro1540His) c.5567C>A (p.Pro1856His) c.5315C>A (p.Pro1772His) c.4061C>A (p.Pro1354His) | |
16 | g.2088537C>G | CA394315742 | TSC2 | c.*3700C>G (n.*3700C>G) c.5198C>G (p.Pro1733Arg) c.5348C>G (p.Pro1783Arg) c.*5864C>G (n.*5864C>G) c.*8100C>G (n.*8100C>G) c.5351C>G (p.Pro1784Arg) c.5282C>G (p.Pro1761Arg) c.5150C>G (p.Pro1717Arg) c.5183C>G (p.Pro1728Arg) c.1574C>G n.3233C>G c.4005C>G c.5210C>G (p.Pro1737Arg) n.948C>G c.5153C>G (p.Pro1718Arg) c.5219C>G (p.Pro1740Arg) c.5144C>G (p.Pro1715Arg) n.2999C>G c.5276C>G (p.Pro1759Arg) c.5222C>G (p.Pro1741Arg) c.5237C>G (p.Pro1746Arg) c.5147C>G (p.Pro1716Arg) c.5272C>G n.3435C>G c.5345C>G (p.Pro1782Arg) n.4166C>G n.2603C>G n.2574C>G n.2464C>G c.5006C>G (p.Pro1669Arg) c.*4518C>G (n.*4518C>G) c.5042C>G (p.Pro1681Arg) n.3074C>G c.1533C>G n.2466C>G c.5405C>G (p.Pro1802Arg) c.5402C>G (p.Pro1801Arg) c.5294C>G (p.Pro1765Arg) c.5273C>G (p.Pro1758Arg) c.4619C>G (p.Pro1540Arg) c.5567C>G (p.Pro1856Arg) c.5315C>G (p.Pro1772Arg) c.4061C>G (p.Pro1354Arg) | |
16 | g.2088537C>T | CA394315743 | TSC2 | c.*3700C>T (n.*3700C>T) c.5198C>T (p.Pro1733Leu) c.5348C>T (p.Pro1783Leu) c.*5864C>T (n.*5864C>T) c.*8100C>T (n.*8100C>T) c.5351C>T (p.Pro1784Leu) c.5282C>T (p.Pro1761Leu) c.5150C>T (p.Pro1717Leu) c.5183C>T (p.Pro1728Leu) c.1574C>T n.3233C>T c.4005C>T c.5210C>T (p.Pro1737Leu) n.948C>T c.5153C>T (p.Pro1718Leu) c.5219C>T (p.Pro1740Leu) c.5144C>T (p.Pro1715Leu) n.2999C>T c.5276C>T (p.Pro1759Leu) c.5222C>T (p.Pro1741Leu) c.5237C>T (p.Pro1746Leu) c.5147C>T (p.Pro1716Leu) c.5272C>T n.3435C>T c.5345C>T (p.Pro1782Leu) n.4166C>T n.2603C>T n.2574C>T n.2464C>T c.5006C>T (p.Pro1669Leu) c.*4518C>T (n.*4518C>T) c.5042C>T (p.Pro1681Leu) n.3074C>T c.1533C>T n.2466C>T c.5405C>T (p.Pro1802Leu) c.5402C>T (p.Pro1801Leu) c.5294C>T (p.Pro1765Leu) c.5273C>T (p.Pro1758Leu) c.4619C>T (p.Pro1540Leu) c.5567C>T (p.Pro1856Leu) c.5315C>T (p.Pro1772Leu) c.4061C>T (p.Pro1354Leu) | |
16 | g.2088538C>A | CA493043723 | TSC2 | c.*3701C>A (n.*3701C>A) c.5199C>A (p.Pro1733=) c.5349C>A (p.Pro1783=) c.*5865C>A (n.*5865C>A) c.*8101C>A (n.*8101C>A) c.5352C>A (p.Pro1784=) c.5283C>A (p.Pro1761=) c.5151C>A (p.Pro1717=) c.5184C>A (p.Pro1728=) c.1575C>A n.3234C>A c.4006C>A c.5211C>A (p.Pro1737=) n.949C>A c.5154C>A (p.Pro1718=) c.5220C>A (p.Pro1740=) c.5145C>A (p.Pro1715=) n.3000C>A c.5277C>A (p.Pro1759=) c.5223C>A (p.Pro1741=) c.5238C>A (p.Pro1746=) c.5148C>A (p.Pro1716=) c.5273C>A n.3436C>A c.5346C>A (p.Pro1782=) n.4167C>A n.2604C>A n.2575C>A n.2465C>A c.5007C>A (p.Pro1669=) c.*4519C>A (n.*4519C>A) c.5043C>A (p.Pro1681=) n.3075C>A c.1534C>A n.2467C>A c.5406C>A (p.Pro1802=) c.5403C>A (p.Pro1801=) c.5295C>A (p.Pro1765=) c.5274C>A (p.Pro1758=) c.4620C>A (p.Pro1540=) c.5568C>A (p.Pro1856=) c.5316C>A (p.Pro1772=) c.4062C>A (p.Pro1354=) | ClinVar dbSNP gnomAD v4 |
16 | g.2088538C= | CA2202034101 | TSC2 | c.*3701C= (n.*3701C=) c.5199C= (p.Pro1733=) c.5349C= (p.Pro1783=) c.*5865C= (n.*5865C=) c.*8101C= (n.*8101C=) c.5352C= (p.Pro1784=) c.5283C= (p.Pro1761=) c.5151C= (p.Pro1717=) c.5184C= (p.Pro1728=) c.1575C= n.3234C= c.4006C= c.5211C= (p.Pro1737=) n.949C= c.5154C= (p.Pro1718=) c.5220C= (p.Pro1740=) c.5145C= (p.Pro1715=) n.3000C= c.5277C= (p.Pro1759=) c.5223C= (p.Pro1741=) c.5238C= (p.Pro1746=) c.5148C= (p.Pro1716=) c.5273C= n.3436C= c.5346C= (p.Pro1782=) n.4167C= n.2604C= n.2575C= n.2465C= c.5007C= (p.Pro1669=) c.*4519C= (n.*4519C=) c.5043C= (p.Pro1681=) n.3075C= c.1534C= n.2467C= c.5406C= (p.Pro1802=) c.5403C= (p.Pro1801=) c.5295C= (p.Pro1765=) c.5274C= (p.Pro1758=) c.4620C= (p.Pro1540=) c.5568C= (p.Pro1856=) c.5316C= (p.Pro1772=) c.4062C= (p.Pro1354=) | |
16 | g.2088538C>G | CA493043724 | TSC2 | c.*3701C>G (n.*3701C>G) c.5199C>G (p.Pro1733=) c.5349C>G (p.Pro1783=) c.*5865C>G (n.*5865C>G) c.*8101C>G (n.*8101C>G) c.5352C>G (p.Pro1784=) c.5283C>G (p.Pro1761=) c.5151C>G (p.Pro1717=) c.5184C>G (p.Pro1728=) c.1575C>G n.3234C>G c.4006C>G c.5211C>G (p.Pro1737=) n.949C>G c.5154C>G (p.Pro1718=) c.5220C>G (p.Pro1740=) c.5145C>G (p.Pro1715=) n.3000C>G c.5277C>G (p.Pro1759=) c.5223C>G (p.Pro1741=) c.5238C>G (p.Pro1746=) c.5148C>G (p.Pro1716=) c.5273C>G n.3436C>G c.5346C>G (p.Pro1782=) n.4167C>G n.2604C>G n.2575C>G n.2465C>G c.5007C>G (p.Pro1669=) c.*4519C>G (n.*4519C>G) c.5043C>G (p.Pro1681=) n.3075C>G c.1534C>G n.2467C>G c.5406C>G (p.Pro1802=) c.5403C>G (p.Pro1801=) c.5295C>G (p.Pro1765=) c.5274C>G (p.Pro1758=) c.4620C>G (p.Pro1540=) c.5568C>G (p.Pro1856=) c.5316C>G (p.Pro1772=) c.4062C>G (p.Pro1354=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088538C>T | CA493043725 | TSC2 | c.*3701C>T (n.*3701C>T) c.5199C>T (p.Pro1733=) c.5349C>T (p.Pro1783=) c.*5865C>T (n.*5865C>T) c.*8101C>T (n.*8101C>T) c.5352C>T (p.Pro1784=) c.5283C>T (p.Pro1761=) c.5151C>T (p.Pro1717=) c.5184C>T (p.Pro1728=) c.1575C>T n.3234C>T c.4006C>T c.5211C>T (p.Pro1737=) n.949C>T c.5154C>T (p.Pro1718=) c.5220C>T (p.Pro1740=) c.5145C>T (p.Pro1715=) n.3000C>T c.5277C>T (p.Pro1759=) c.5223C>T (p.Pro1741=) c.5238C>T (p.Pro1746=) c.5148C>T (p.Pro1716=) c.5273C>T n.3436C>T c.5346C>T (p.Pro1782=) n.4167C>T n.2604C>T n.2575C>T n.2465C>T c.5007C>T (p.Pro1669=) c.*4519C>T (n.*4519C>T) c.5043C>T (p.Pro1681=) n.3075C>T c.1534C>T n.2467C>T c.5406C>T (p.Pro1802=) c.5403C>T (p.Pro1801=) c.5295C>T (p.Pro1765=) c.5274C>T (p.Pro1758=) c.4620C>T (p.Pro1540=) c.5568C>T (p.Pro1856=) c.5316C>T (p.Pro1772=) c.4062C>T (p.Pro1354=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088539A= | CA2202034116 | TSC2 | c.*3702A= (n.*3702A=) c.5200A= (p.Thr1734=) c.5350A= (p.Thr1784=) c.*5866A= (n.*5866A=) c.*8102A= (n.*8102A=) c.5353A= (p.Thr1785=) c.5284A= (p.Thr1762=) c.5152A= (p.Thr1718=) c.5185A= (p.Thr1729=) c.1576A= n.3235A= c.4007A= c.5212A= (p.Thr1738=) n.950A= c.5155A= (p.Thr1719=) c.5221A= (p.Thr1741=) c.5146A= (p.Thr1716=) n.3001A= c.5278A= (p.Thr1760=) c.5224A= (p.Thr1742=) c.5239A= (p.Thr1747=) c.5149A= (p.Thr1717=) c.5274A= n.3437A= c.5347A= (p.Thr1783=) n.4168A= n.2605A= n.2576A= n.2466A= c.5008A= (p.Thr1670=) c.*4520A= (n.*4520A=) c.5044A= (p.Thr1682=) n.3076A= c.1535A= n.2468A= c.5407A= (p.Thr1803=) c.5404A= (p.Thr1802=) c.5296A= (p.Thr1766=) c.5275A= (p.Thr1759=) c.4621A= (p.Thr1541=) c.5569A= (p.Thr1857=) c.5317A= (p.Thr1773=) c.4063A= (p.Thr1355=) | |
16 | g.2088539A>C | CA394315744 | TSC2 | c.*3702A>C (n.*3702A>C) c.5200A>C (p.Thr1734Pro) c.5350A>C (p.Thr1784Pro) c.*5866A>C (n.*5866A>C) c.*8102A>C (n.*8102A>C) c.5353A>C (p.Thr1785Pro) c.5284A>C (p.Thr1762Pro) c.5152A>C (p.Thr1718Pro) c.5185A>C (p.Thr1729Pro) c.1576A>C n.3235A>C c.4007A>C c.5212A>C (p.Thr1738Pro) n.950A>C c.5155A>C (p.Thr1719Pro) c.5221A>C (p.Thr1741Pro) c.5146A>C (p.Thr1716Pro) n.3001A>C c.5278A>C (p.Thr1760Pro) c.5224A>C (p.Thr1742Pro) c.5239A>C (p.Thr1747Pro) c.5149A>C (p.Thr1717Pro) c.5274A>C n.3437A>C c.5347A>C (p.Thr1783Pro) n.4168A>C n.2605A>C n.2576A>C n.2466A>C c.5008A>C (p.Thr1670Pro) c.*4520A>C (n.*4520A>C) c.5044A>C (p.Thr1682Pro) n.3076A>C c.1535A>C n.2468A>C c.5407A>C (p.Thr1803Pro) c.5404A>C (p.Thr1802Pro) c.5296A>C (p.Thr1766Pro) c.5275A>C (p.Thr1759Pro) c.4621A>C (p.Thr1541Pro) c.5569A>C (p.Thr1857Pro) c.5317A>C (p.Thr1773Pro) c.4063A>C (p.Thr1355Pro) | ClinVar dbSNP |
16 | g.2088539A>G | CA394315757 | TSC2 | c.*3702A>G (n.*3702A>G) c.5200A>G (p.Thr1734Ala) c.5350A>G (p.Thr1784Ala) c.*5866A>G (n.*5866A>G) c.*8102A>G (n.*8102A>G) c.5353A>G (p.Thr1785Ala) c.5284A>G (p.Thr1762Ala) c.5152A>G (p.Thr1718Ala) c.5185A>G (p.Thr1729Ala) c.1576A>G n.3235A>G c.4007A>G c.5212A>G (p.Thr1738Ala) n.950A>G c.5155A>G (p.Thr1719Ala) c.5221A>G (p.Thr1741Ala) c.5146A>G (p.Thr1716Ala) n.3001A>G c.5278A>G (p.Thr1760Ala) c.5224A>G (p.Thr1742Ala) c.5239A>G (p.Thr1747Ala) c.5149A>G (p.Thr1717Ala) c.5274A>G n.3437A>G c.5347A>G (p.Thr1783Ala) n.4168A>G n.2605A>G n.2576A>G n.2466A>G c.5008A>G (p.Thr1670Ala) c.*4520A>G (n.*4520A>G) c.5044A>G (p.Thr1682Ala) n.3076A>G c.1535A>G n.2468A>G c.5407A>G (p.Thr1803Ala) c.5404A>G (p.Thr1802Ala) c.5296A>G (p.Thr1766Ala) c.5275A>G (p.Thr1759Ala) c.4621A>G (p.Thr1541Ala) c.5569A>G (p.Thr1857Ala) c.5317A>G (p.Thr1773Ala) c.4063A>G (p.Thr1355Ala) | ClinVar dbSNP |
16 | g.2088539A>T | CA394315746 | TSC2 | c.*3702A>T (n.*3702A>T) c.5200A>T (p.Thr1734Ser) c.5350A>T (p.Thr1784Ser) c.*5866A>T (n.*5866A>T) c.*8102A>T (n.*8102A>T) c.5353A>T (p.Thr1785Ser) c.5284A>T (p.Thr1762Ser) c.5152A>T (p.Thr1718Ser) c.5185A>T (p.Thr1729Ser) c.1576A>T n.3235A>T c.4007A>T c.5212A>T (p.Thr1738Ser) n.950A>T c.5155A>T (p.Thr1719Ser) c.5221A>T (p.Thr1741Ser) c.5146A>T (p.Thr1716Ser) n.3001A>T c.5278A>T (p.Thr1760Ser) c.5224A>T (p.Thr1742Ser) c.5239A>T (p.Thr1747Ser) c.5149A>T (p.Thr1717Ser) c.5274A>T n.3437A>T c.5347A>T (p.Thr1783Ser) n.4168A>T n.2605A>T n.2576A>T n.2466A>T c.5008A>T (p.Thr1670Ser) c.*4520A>T (n.*4520A>T) c.5044A>T (p.Thr1682Ser) n.3076A>T c.1535A>T n.2468A>T c.5407A>T (p.Thr1803Ser) c.5404A>T (p.Thr1802Ser) c.5296A>T (p.Thr1766Ser) c.5275A>T (p.Thr1759Ser) c.4621A>T (p.Thr1541Ser) c.5569A>T (p.Thr1857Ser) c.5317A>T (p.Thr1773Ser) c.4063A>T (p.Thr1355Ser) | ClinVar dbSNP |
16 | g.2088540C>A | CA394315758 | TSC2 | c.*3703C>A (n.*3703C>A) c.5201C>A (p.Thr1734Lys) c.5351C>A (p.Thr1784Lys) c.*5867C>A (n.*5867C>A) c.*8103C>A (n.*8103C>A) c.5354C>A (p.Thr1785Lys) c.5285C>A (p.Thr1762Lys) c.5153C>A (p.Thr1718Lys) c.5186C>A (p.Thr1729Lys) c.1577C>A n.3236C>A c.4008C>A c.5213C>A (p.Thr1738Lys) n.951C>A c.5156C>A (p.Thr1719Lys) c.5222C>A (p.Thr1741Lys) c.5147C>A (p.Thr1716Lys) n.3002C>A c.5279C>A (p.Thr1760Lys) c.5225C>A (p.Thr1742Lys) c.5240C>A (p.Thr1747Lys) c.5150C>A (p.Thr1717Lys) c.5275C>A n.3438C>A c.5348C>A (p.Thr1783Lys) n.4169C>A n.2606C>A n.2577C>A n.2467C>A c.5009C>A (p.Thr1670Lys) c.*4521C>A (n.*4521C>A) c.5045C>A (p.Thr1682Lys) n.3077C>A c.1536C>A n.2469C>A c.5408C>A (p.Thr1803Lys) c.5405C>A (p.Thr1802Lys) c.5297C>A (p.Thr1766Lys) c.5276C>A (p.Thr1759Lys) c.4622C>A (p.Thr1541Lys) c.5570C>A (p.Thr1857Lys) c.5318C>A (p.Thr1773Lys) c.4064C>A (p.Thr1355Lys) | |
16 | g.2088540C>G | CA394315759 | TSC2 | c.*3703C>G (n.*3703C>G) c.5201C>G (p.Thr1734Arg) c.5351C>G (p.Thr1784Arg) c.*5867C>G (n.*5867C>G) c.*8103C>G (n.*8103C>G) c.5354C>G (p.Thr1785Arg) c.5285C>G (p.Thr1762Arg) c.5153C>G (p.Thr1718Arg) c.5186C>G (p.Thr1729Arg) c.1577C>G n.3236C>G c.4008C>G c.5213C>G (p.Thr1738Arg) n.951C>G c.5156C>G (p.Thr1719Arg) c.5222C>G (p.Thr1741Arg) c.5147C>G (p.Thr1716Arg) n.3002C>G c.5279C>G (p.Thr1760Arg) c.5225C>G (p.Thr1742Arg) c.5240C>G (p.Thr1747Arg) c.5150C>G (p.Thr1717Arg) c.5275C>G n.3438C>G c.5348C>G (p.Thr1783Arg) n.4169C>G n.2606C>G n.2577C>G n.2467C>G c.5009C>G (p.Thr1670Arg) c.*4521C>G (n.*4521C>G) c.5045C>G (p.Thr1682Arg) n.3077C>G c.1536C>G n.2469C>G c.5408C>G (p.Thr1803Arg) c.5405C>G (p.Thr1802Arg) c.5297C>G (p.Thr1766Arg) c.5276C>G (p.Thr1759Arg) c.4622C>G (p.Thr1541Arg) c.5570C>G (p.Thr1857Arg) c.5318C>G (p.Thr1773Arg) c.4064C>G (p.Thr1355Arg) | |
16 | g.2088540C>T | CA394315760 | TSC2 | c.*3703C>T (n.*3703C>T) c.5201C>T (p.Thr1734Ile) c.5351C>T (p.Thr1784Ile) c.*5867C>T (n.*5867C>T) c.*8103C>T (n.*8103C>T) c.5354C>T (p.Thr1785Ile) c.5285C>T (p.Thr1762Ile) c.5153C>T (p.Thr1718Ile) c.5186C>T (p.Thr1729Ile) c.1577C>T n.3236C>T c.4008C>T c.5213C>T (p.Thr1738Ile) n.951C>T c.5156C>T (p.Thr1719Ile) c.5222C>T (p.Thr1741Ile) c.5147C>T (p.Thr1716Ile) n.3002C>T c.5279C>T (p.Thr1760Ile) c.5225C>T (p.Thr1742Ile) c.5240C>T (p.Thr1747Ile) c.5150C>T (p.Thr1717Ile) c.5275C>T n.3438C>T c.5348C>T (p.Thr1783Ile) n.4169C>T n.2606C>T n.2577C>T n.2467C>T c.5009C>T (p.Thr1670Ile) c.*4521C>T (n.*4521C>T) c.5045C>T (p.Thr1682Ile) n.3077C>T c.1536C>T n.2469C>T c.5408C>T (p.Thr1803Ile) c.5405C>T (p.Thr1802Ile) c.5297C>T (p.Thr1766Ile) c.5276C>T (p.Thr1759Ile) c.4622C>T (p.Thr1541Ile) c.5570C>T (p.Thr1857Ile) c.5318C>T (p.Thr1773Ile) c.4064C>T (p.Thr1355Ile) | |
16 | g.2088541A= | CA2202034121 | TSC2 | c.*3704A= (n.*3704A=) c.5202A= (p.Thr1734=) c.5352A= (p.Thr1784=) c.*5868A= (n.*5868A=) c.*8104A= (n.*8104A=) c.5355A= (p.Thr1785=) c.5286A= (p.Thr1762=) c.5154A= (p.Thr1718=) c.5187A= (p.Thr1729=) c.1578A= n.3237A= c.4009A= c.5214A= (p.Thr1738=) n.952A= c.5157A= (p.Thr1719=) c.5223A= (p.Thr1741=) c.5148A= (p.Thr1716=) n.3003A= c.5280A= (p.Thr1760=) c.5226A= (p.Thr1742=) c.5241A= (p.Thr1747=) c.5151A= (p.Thr1717=) c.5276A= n.3439A= c.5349A= (p.Thr1783=) n.4170A= n.2607A= n.2578A= n.2468A= c.5010A= (p.Thr1670=) c.*4522A= (n.*4522A=) c.5046A= (p.Thr1682=) n.3078A= c.1537A= n.2470A= c.5409A= (p.Thr1803=) c.5406A= (p.Thr1802=) c.5298A= (p.Thr1766=) c.5277A= (p.Thr1759=) c.4623A= (p.Thr1541=) c.5571A= (p.Thr1857=) c.5319A= (p.Thr1773=) c.4065A= (p.Thr1355=) | |
16 | g.2088541A>C | CA493043726 | TSC2 | c.*3704A>C (n.*3704A>C) c.5202A>C (p.Thr1734=) c.5352A>C (p.Thr1784=) c.*5868A>C (n.*5868A>C) c.*8104A>C (n.*8104A>C) c.5355A>C (p.Thr1785=) c.5286A>C (p.Thr1762=) c.5154A>C (p.Thr1718=) c.5187A>C (p.Thr1729=) c.1578A>C n.3237A>C c.4009A>C c.5214A>C (p.Thr1738=) n.952A>C c.5157A>C (p.Thr1719=) c.5223A>C (p.Thr1741=) c.5148A>C (p.Thr1716=) n.3003A>C c.5280A>C (p.Thr1760=) c.5226A>C (p.Thr1742=) c.5241A>C (p.Thr1747=) c.5151A>C (p.Thr1717=) c.5276A>C n.3439A>C c.5349A>C (p.Thr1783=) n.4170A>C n.2607A>C n.2578A>C n.2468A>C c.5010A>C (p.Thr1670=) c.*4522A>C (n.*4522A>C) c.5046A>C (p.Thr1682=) n.3078A>C c.1537A>C n.2470A>C c.5409A>C (p.Thr1803=) c.5406A>C (p.Thr1802=) c.5298A>C (p.Thr1766=) c.5277A>C (p.Thr1759=) c.4623A>C (p.Thr1541=) c.5571A>C (p.Thr1857=) c.5319A>C (p.Thr1773=) c.4065A>C (p.Thr1355=) | |
16 | g.2088541A>G | CA16608080 | TSC2 | c.*3704A>G (n.*3704A>G) c.5202A>G (p.Thr1734=) c.5352A>G (p.Thr1784=) c.*5868A>G (n.*5868A>G) c.*8104A>G (n.*8104A>G) c.5355A>G (p.Thr1785=) c.5286A>G (p.Thr1762=) c.5154A>G (p.Thr1718=) c.5187A>G (p.Thr1729=) c.1578A>G n.3237A>G c.4009A>G c.5214A>G (p.Thr1738=) n.952A>G c.5157A>G (p.Thr1719=) c.5223A>G (p.Thr1741=) c.5148A>G (p.Thr1716=) n.3003A>G c.5280A>G (p.Thr1760=) c.5226A>G (p.Thr1742=) c.5241A>G (p.Thr1747=) c.5151A>G (p.Thr1717=) c.5276A>G n.3439A>G c.5349A>G (p.Thr1783=) n.4170A>G n.2607A>G n.2578A>G n.2468A>G c.5010A>G (p.Thr1670=) c.*4522A>G (n.*4522A>G) c.5046A>G (p.Thr1682=) n.3078A>G c.1537A>G n.2470A>G c.5409A>G (p.Thr1803=) c.5406A>G (p.Thr1802=) c.5298A>G (p.Thr1766=) c.5277A>G (p.Thr1759=) c.4623A>G (p.Thr1541=) c.5571A>G (p.Thr1857=) c.5319A>G (p.Thr1773=) c.4065A>G (p.Thr1355=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088541A>T | CA493043727 | TSC2 | c.*3704A>T (n.*3704A>T) c.5202A>T (p.Thr1734=) c.5352A>T (p.Thr1784=) c.*5868A>T (n.*5868A>T) c.*8104A>T (n.*8104A>T) c.5355A>T (p.Thr1785=) c.5286A>T (p.Thr1762=) c.5154A>T (p.Thr1718=) c.5187A>T (p.Thr1729=) c.1578A>T n.3237A>T c.4009A>T c.5214A>T (p.Thr1738=) n.952A>T c.5157A>T (p.Thr1719=) c.5223A>T (p.Thr1741=) c.5148A>T (p.Thr1716=) n.3003A>T c.5280A>T (p.Thr1760=) c.5226A>T (p.Thr1742=) c.5241A>T (p.Thr1747=) c.5151A>T (p.Thr1717=) c.5276A>T n.3439A>T c.5349A>T (p.Thr1783=) n.4170A>T n.2607A>T n.2578A>T n.2468A>T c.5010A>T (p.Thr1670=) c.*4522A>T (n.*4522A>T) c.5046A>T (p.Thr1682=) n.3078A>T c.1537A>T n.2470A>T c.5409A>T (p.Thr1803=) c.5406A>T (p.Thr1802=) c.5298A>T (p.Thr1766=) c.5277A>T (p.Thr1759=) c.4623A>T (p.Thr1541=) c.5571A>T (p.Thr1857=) c.5319A>T (p.Thr1773=) c.4065A>T (p.Thr1355=) | |
16 | g.2088542C>A | CA394315765 | TSC2 | c.*3705C>A (n.*3705C>A) c.5203C>A (p.Pro1735Thr) c.5353C>A (p.Pro1785Thr) c.*5869C>A (n.*5869C>A) c.*8105C>A (n.*8105C>A) c.5356C>A (p.Pro1786Thr) c.5287C>A (p.Pro1763Thr) c.5155C>A (p.Pro1719Thr) c.5188C>A (p.Pro1730Thr) c.1579C>A n.3238C>A c.4010C>A c.5215C>A (p.Pro1739Thr) n.953C>A c.5158C>A (p.Pro1720Thr) c.5224C>A (p.Pro1742Thr) c.5149C>A (p.Pro1717Thr) n.3004C>A c.5281C>A (p.Pro1761Thr) c.5227C>A (p.Pro1743Thr) c.5242C>A (p.Pro1748Thr) c.5152C>A (p.Pro1718Thr) c.5277C>A n.3440C>A c.5350C>A (p.Pro1784Thr) n.4171C>A n.2608C>A n.2579C>A n.2469C>A c.5011C>A (p.Pro1671Thr) c.*4523C>A (n.*4523C>A) c.5047C>A (p.Pro1683Thr) n.3079C>A c.1538C>A n.2471C>A c.5410C>A (p.Pro1804Thr) c.5407C>A (p.Pro1803Thr) c.5299C>A (p.Pro1767Thr) c.5278C>A (p.Pro1760Thr) c.4624C>A (p.Pro1542Thr) c.5572C>A (p.Pro1858Thr) c.5320C>A (p.Pro1774Thr) c.4066C>A (p.Pro1356Thr) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088542C= | CA2202034128 | TSC2 | c.*3705C= (n.*3705C=) c.5203C= (p.Pro1735=) c.5353C= (p.Pro1785=) c.*5869C= (n.*5869C=) c.*8105C= (n.*8105C=) c.5356C= (p.Pro1786=) c.5287C= (p.Pro1763=) c.5155C= (p.Pro1719=) c.5188C= (p.Pro1730=) c.1579C= n.3238C= c.4010C= c.5215C= (p.Pro1739=) n.953C= c.5158C= (p.Pro1720=) c.5224C= (p.Pro1742=) c.5149C= (p.Pro1717=) n.3004C= c.5281C= (p.Pro1761=) c.5227C= (p.Pro1743=) c.5242C= (p.Pro1748=) c.5152C= (p.Pro1718=) c.5277C= n.3440C= c.5350C= (p.Pro1784=) n.4171C= n.2608C= n.2579C= n.2469C= c.5011C= (p.Pro1671=) c.*4523C= (n.*4523C=) c.5047C= (p.Pro1683=) n.3079C= c.1538C= n.2471C= c.5410C= (p.Pro1804=) c.5407C= (p.Pro1803=) c.5299C= (p.Pro1767=) c.5278C= (p.Pro1760=) c.4624C= (p.Pro1542=) c.5572C= (p.Pro1858=) c.5320C= (p.Pro1774=) c.4066C= (p.Pro1356=) | |
16 | g.2088542C>G | CA394315767 | TSC2 | c.*3705C>G (n.*3705C>G) c.5203C>G (p.Pro1735Ala) c.5353C>G (p.Pro1785Ala) c.*5869C>G (n.*5869C>G) c.*8105C>G (n.*8105C>G) c.5356C>G (p.Pro1786Ala) c.5287C>G (p.Pro1763Ala) c.5155C>G (p.Pro1719Ala) c.5188C>G (p.Pro1730Ala) c.1579C>G n.3238C>G c.4010C>G c.5215C>G (p.Pro1739Ala) n.953C>G c.5158C>G (p.Pro1720Ala) c.5224C>G (p.Pro1742Ala) c.5149C>G (p.Pro1717Ala) n.3004C>G c.5281C>G (p.Pro1761Ala) c.5227C>G (p.Pro1743Ala) c.5242C>G (p.Pro1748Ala) c.5152C>G (p.Pro1718Ala) c.5277C>G n.3440C>G c.5350C>G (p.Pro1784Ala) n.4171C>G n.2608C>G n.2579C>G n.2469C>G c.5011C>G (p.Pro1671Ala) c.*4523C>G (n.*4523C>G) c.5047C>G (p.Pro1683Ala) n.3079C>G c.1538C>G n.2471C>G c.5410C>G (p.Pro1804Ala) c.5407C>G (p.Pro1803Ala) c.5299C>G (p.Pro1767Ala) c.5278C>G (p.Pro1760Ala) c.4624C>G (p.Pro1542Ala) c.5572C>G (p.Pro1858Ala) c.5320C>G (p.Pro1774Ala) c.4066C>G (p.Pro1356Ala) | |
16 | g.2088542C>T | CA055190 | TSC2 | c.*3705C>T (n.*3705C>T) c.5203C>T (p.Pro1735Ser) c.5353C>T (p.Pro1785Ser) c.*5869C>T (n.*5869C>T) c.*8105C>T (n.*8105C>T) c.5356C>T (p.Pro1786Ser) c.5287C>T (p.Pro1763Ser) c.5155C>T (p.Pro1719Ser) c.5188C>T (p.Pro1730Ser) c.1579C>T n.3238C>T c.4010C>T c.5215C>T (p.Pro1739Ser) n.953C>T c.5158C>T (p.Pro1720Ser) c.5224C>T (p.Pro1742Ser) c.5149C>T (p.Pro1717Ser) n.3004C>T c.5281C>T (p.Pro1761Ser) c.5227C>T (p.Pro1743Ser) c.5242C>T (p.Pro1748Ser) c.5152C>T (p.Pro1718Ser) c.5277C>T n.3440C>T c.5350C>T (p.Pro1784Ser) n.4171C>T n.2608C>T n.2579C>T n.2469C>T c.5011C>T (p.Pro1671Ser) c.*4523C>T (n.*4523C>T) c.5047C>T (p.Pro1683Ser) n.3079C>T c.1538C>T n.2471C>T c.5410C>T (p.Pro1804Ser) c.5407C>T (p.Pro1803Ser) c.5299C>T (p.Pro1767Ser) c.5278C>T (p.Pro1760Ser) c.4624C>T (p.Pro1542Ser) c.5572C>T (p.Pro1858Ser) c.5320C>T (p.Pro1774Ser) c.4066C>T (p.Pro1356Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2088543C>A | CA394315772 | TSC2 | c.*3706C>A (n.*3706C>A) c.5204C>A (p.Pro1735His) c.5354C>A (p.Pro1785His) c.*5870C>A (n.*5870C>A) c.*8106C>A (n.*8106C>A) c.5357C>A (p.Pro1786His) c.5288C>A (p.Pro1763His) c.5156C>A (p.Pro1719His) c.5189C>A (p.Pro1730His) c.1580C>A n.3239C>A c.4011C>A c.5216C>A (p.Pro1739His) n.954C>A c.5159C>A (p.Pro1720His) c.5225C>A (p.Pro1742His) c.5150C>A (p.Pro1717His) n.3005C>A c.5282C>A (p.Pro1761His) c.5228C>A (p.Pro1743His) c.5243C>A (p.Pro1748His) c.5153C>A (p.Pro1718His) c.5278C>A n.3441C>A c.5351C>A (p.Pro1784His) n.4172C>A n.2609C>A n.2580C>A n.2470C>A c.5012C>A (p.Pro1671His) c.*4524C>A (n.*4524C>A) c.5048C>A (p.Pro1683His) n.3080C>A c.1539C>A n.2472C>A c.5411C>A (p.Pro1804His) c.5408C>A (p.Pro1803His) c.5300C>A (p.Pro1767His) c.5279C>A (p.Pro1760His) c.4625C>A (p.Pro1542His) c.5573C>A (p.Pro1858His) c.5321C>A (p.Pro1774His) c.4067C>A (p.Pro1356His) | |
16 | g.2088543C= | CA2202034140 | TSC2 | c.*3706C= (n.*3706C=) c.5204C= (p.Pro1735=) c.5354C= (p.Pro1785=) c.*5870C= (n.*5870C=) c.*8106C= (n.*8106C=) c.5357C= (p.Pro1786=) c.5288C= (p.Pro1763=) c.5156C= (p.Pro1719=) c.5189C= (p.Pro1730=) c.1580C= n.3239C= c.4011C= c.5216C= (p.Pro1739=) n.954C= c.5159C= (p.Pro1720=) c.5225C= (p.Pro1742=) c.5150C= (p.Pro1717=) n.3005C= c.5282C= (p.Pro1761=) c.5228C= (p.Pro1743=) c.5243C= (p.Pro1748=) c.5153C= (p.Pro1718=) c.5278C= n.3441C= c.5351C= (p.Pro1784=) n.4172C= n.2609C= n.2580C= n.2470C= c.5012C= (p.Pro1671=) c.*4524C= (n.*4524C=) c.5048C= (p.Pro1683=) n.3080C= c.1539C= n.2472C= c.5411C= (p.Pro1804=) c.5408C= (p.Pro1803=) c.5300C= (p.Pro1767=) c.5279C= (p.Pro1760=) c.4625C= (p.Pro1542=) c.5573C= (p.Pro1858=) c.5321C= (p.Pro1774=) c.4067C= (p.Pro1356=) | |
16 | g.2088543C>G | CA055199 | TSC2 | c.*3706C>G (n.*3706C>G) c.5204C>G (p.Pro1735Arg) c.5354C>G (p.Pro1785Arg) c.*5870C>G (n.*5870C>G) c.*8106C>G (n.*8106C>G) c.5357C>G (p.Pro1786Arg) c.5288C>G (p.Pro1763Arg) c.5156C>G (p.Pro1719Arg) c.5189C>G (p.Pro1730Arg) c.1580C>G n.3239C>G c.4011C>G c.5216C>G (p.Pro1739Arg) n.954C>G c.5159C>G (p.Pro1720Arg) c.5225C>G (p.Pro1742Arg) c.5150C>G (p.Pro1717Arg) n.3005C>G c.5282C>G (p.Pro1761Arg) c.5228C>G (p.Pro1743Arg) c.5243C>G (p.Pro1748Arg) c.5153C>G (p.Pro1718Arg) c.5278C>G n.3441C>G c.5351C>G (p.Pro1784Arg) n.4172C>G n.2609C>G n.2580C>G n.2470C>G c.5012C>G (p.Pro1671Arg) c.*4524C>G (n.*4524C>G) c.5048C>G (p.Pro1683Arg) n.3080C>G c.1539C>G n.2472C>G c.5411C>G (p.Pro1804Arg) c.5408C>G (p.Pro1803Arg) c.5300C>G (p.Pro1767Arg) c.5279C>G (p.Pro1760Arg) c.4625C>G (p.Pro1542Arg) c.5573C>G (p.Pro1858Arg) c.5321C>G (p.Pro1774Arg) c.4067C>G (p.Pro1356Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088543C>T | CA394315777 | TSC2 | c.*3706C>T (n.*3706C>T) c.5204C>T (p.Pro1735Leu) c.5354C>T (p.Pro1785Leu) c.*5870C>T (n.*5870C>T) c.*8106C>T (n.*8106C>T) c.5357C>T (p.Pro1786Leu) c.5288C>T (p.Pro1763Leu) c.5156C>T (p.Pro1719Leu) c.5189C>T (p.Pro1730Leu) c.1580C>T n.3239C>T c.4011C>T c.5216C>T (p.Pro1739Leu) n.954C>T c.5159C>T (p.Pro1720Leu) c.5225C>T (p.Pro1742Leu) c.5150C>T (p.Pro1717Leu) n.3005C>T c.5282C>T (p.Pro1761Leu) c.5228C>T (p.Pro1743Leu) c.5243C>T (p.Pro1748Leu) c.5153C>T (p.Pro1718Leu) c.5278C>T n.3441C>T c.5351C>T (p.Pro1784Leu) n.4172C>T n.2609C>T n.2580C>T n.2470C>T c.5012C>T (p.Pro1671Leu) c.*4524C>T (n.*4524C>T) c.5048C>T (p.Pro1683Leu) n.3080C>T c.1539C>T n.2472C>T c.5411C>T (p.Pro1804Leu) c.5408C>T (p.Pro1803Leu) c.5300C>T (p.Pro1767Leu) c.5279C>T (p.Pro1760Leu) c.4625C>T (p.Pro1542Leu) c.5573C>T (p.Pro1858Leu) c.5321C>T (p.Pro1774Leu) c.4067C>T (p.Pro1356Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088544del | CA2573054169 | TSC2 | c.*3707del (n.*3707del) c.5205del (p.Gly1736AlafsTer?) c.5355del (p.Gly1786AlafsTer?) c.*5871del (n.*5871del) c.*8107del (n.*8107del) c.5358del (p.Gly1787AlafsTer?) c.5289del (p.Gly1764AlafsTer?) c.5157del (p.Gly1720AlafsTer?) c.5190del (p.Gly1731AlafsTer?) c.1581del n.3240del c.4012del c.5217del (p.Gly1740AlafsTer?) n.955del c.5160del (p.Gly1721AlafsTer?) c.5226del (p.Gly1743AlafsTer?) c.5151del (p.Gly1718AlafsTer?) n.3006del c.5283del (p.Gly1762AlafsTer?) c.5229del (p.Gly1744AlafsTer?) c.5244del (p.Gly1749AlafsTer?) c.5154del (p.Gly1719AlafsTer?) c.5279del n.3442del c.5352del (p.Gly1785AlafsTer?) n.4173del n.2610del n.2581del n.2471del c.5013del (p.Gly1672AlafsTer?) c.*4525del (n.*4525del) c.5049del (p.Gly1684AlafsTer?) n.3081del c.1540del n.2473del c.5412del (p.Gly1805AlafsTer?) c.5409del (p.Gly1804AlafsTer?) c.5301del (p.Gly1768AlafsTer?) c.5280del (p.Gly1761AlafsTer?) c.4626del (p.Gly1543AlafsTer?) c.5574del (p.Gly1859AlafsTer?) c.5322del (p.Gly1775AlafsTer?) c.4068del (p.Gly1357AlafsTer?) | ClinVar dbSNP |
16 | g.2088544T>A | CA493043731 | TSC2 | c.*3707T>A (n.*3707T>A) c.5205T>A (p.Pro1735=) c.5355T>A (p.Pro1785=) c.*5871T>A (n.*5871T>A) c.*8107T>A (n.*8107T>A) c.5358T>A (p.Pro1786=) c.5289T>A (p.Pro1763=) c.5157T>A (p.Pro1719=) c.5190T>A (p.Pro1730=) c.1581T>A n.3240T>A c.4012T>A c.5217T>A (p.Pro1739=) n.955T>A c.5160T>A (p.Pro1720=) c.5226T>A (p.Pro1742=) c.5151T>A (p.Pro1717=) n.3006T>A c.5283T>A (p.Pro1761=) c.5229T>A (p.Pro1743=) c.5244T>A (p.Pro1748=) c.5154T>A (p.Pro1718=) c.5279T>A n.3442T>A c.5352T>A (p.Pro1784=) n.4173T>A n.2610T>A n.2581T>A n.2471T>A c.5013T>A (p.Pro1671=) c.*4525T>A (n.*4525T>A) c.5049T>A (p.Pro1683=) n.3081T>A c.1540T>A n.2473T>A c.5412T>A (p.Pro1804=) c.5409T>A (p.Pro1803=) c.5301T>A (p.Pro1767=) c.5280T>A (p.Pro1760=) c.4626T>A (p.Pro1542=) c.5574T>A (p.Pro1858=) c.5322T>A (p.Pro1774=) c.4068T>A (p.Pro1356=) | |
16 | g.2088544T>C | CA493043732 | TSC2 | c.*3707T>C (n.*3707T>C) c.5205T>C (p.Pro1735=) c.5355T>C (p.Pro1785=) c.*5871T>C (n.*5871T>C) c.*8107T>C (n.*8107T>C) c.5358T>C (p.Pro1786=) c.5289T>C (p.Pro1763=) c.5157T>C (p.Pro1719=) c.5190T>C (p.Pro1730=) c.1581T>C n.3240T>C c.4012T>C c.5217T>C (p.Pro1739=) n.955T>C c.5160T>C (p.Pro1720=) c.5226T>C (p.Pro1742=) c.5151T>C (p.Pro1717=) n.3006T>C c.5283T>C (p.Pro1761=) c.5229T>C (p.Pro1743=) c.5244T>C (p.Pro1748=) c.5154T>C (p.Pro1718=) c.5279T>C n.3442T>C c.5352T>C (p.Pro1784=) n.4173T>C n.2610T>C n.2581T>C n.2471T>C c.5013T>C (p.Pro1671=) c.*4525T>C (n.*4525T>C) c.5049T>C (p.Pro1683=) n.3081T>C c.1540T>C n.2473T>C c.5412T>C (p.Pro1804=) c.5409T>C (p.Pro1803=) c.5301T>C (p.Pro1767=) c.5280T>C (p.Pro1760=) c.4626T>C (p.Pro1542=) c.5574T>C (p.Pro1858=) c.5322T>C (p.Pro1774=) c.4068T>C (p.Pro1356=) | ClinVar dbSNP |
16 | g.2088544T>G | CA493043733 | TSC2 | c.*3707T>G (n.*3707T>G) c.5205T>G (p.Pro1735=) c.5355T>G (p.Pro1785=) c.*5871T>G (n.*5871T>G) c.*8107T>G (n.*8107T>G) c.5358T>G (p.Pro1786=) c.5289T>G (p.Pro1763=) c.5157T>G (p.Pro1719=) c.5190T>G (p.Pro1730=) c.1581T>G n.3240T>G c.4012T>G c.5217T>G (p.Pro1739=) n.955T>G c.5160T>G (p.Pro1720=) c.5226T>G (p.Pro1742=) c.5151T>G (p.Pro1717=) n.3006T>G c.5283T>G (p.Pro1761=) c.5229T>G (p.Pro1743=) c.5244T>G (p.Pro1748=) c.5154T>G (p.Pro1718=) c.5279T>G n.3442T>G c.5352T>G (p.Pro1784=) n.4173T>G n.2610T>G n.2581T>G n.2471T>G c.5013T>G (p.Pro1671=) c.*4525T>G (n.*4525T>G) c.5049T>G (p.Pro1683=) n.3081T>G c.1540T>G n.2473T>G c.5412T>G (p.Pro1804=) c.5409T>G (p.Pro1803=) c.5301T>G (p.Pro1767=) c.5280T>G (p.Pro1760=) c.4626T>G (p.Pro1542=) c.5574T>G (p.Pro1858=) c.5322T>G (p.Pro1774=) c.4068T>G (p.Pro1356=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088544T= | CA2202034148 | TSC2 | c.*3707T= (n.*3707T=) c.5205T= (p.Pro1735=) c.5355T= (p.Pro1785=) c.*5871T= (n.*5871T=) c.*8107T= (n.*8107T=) c.5358T= (p.Pro1786=) c.5289T= (p.Pro1763=) c.5157T= (p.Pro1719=) c.5190T= (p.Pro1730=) c.1581T= n.3240T= c.4012T= c.5217T= (p.Pro1739=) n.955T= c.5160T= (p.Pro1720=) c.5226T= (p.Pro1742=) c.5151T= (p.Pro1717=) n.3006T= c.5283T= (p.Pro1761=) c.5229T= (p.Pro1743=) c.5244T= (p.Pro1748=) c.5154T= (p.Pro1718=) c.5279T= n.3442T= c.5352T= (p.Pro1784=) n.4173T= n.2610T= n.2581T= n.2471T= c.5013T= (p.Pro1671=) c.*4525T= (n.*4525T=) c.5049T= (p.Pro1683=) n.3081T= c.1540T= n.2473T= c.5412T= (p.Pro1804=) c.5409T= (p.Pro1803=) c.5301T= (p.Pro1767=) c.5280T= (p.Pro1760=) c.4626T= (p.Pro1542=) c.5574T= (p.Pro1858=) c.5322T= (p.Pro1774=) c.4068T= (p.Pro1356=) | |
16 | g.2088545G>A | CA022408 | TSC2 | c.*3708G>A (n.*3708G>A) c.5206G>A (p.Gly1736Ser) c.5356G>A (p.Gly1786Ser) c.*5872G>A (n.*5872G>A) c.*8108G>A (n.*8108G>A) c.5359G>A (p.Gly1787Ser) c.5290G>A (p.Gly1764Ser) c.5158G>A (p.Gly1720Ser) c.5191G>A (p.Gly1731Ser) c.1582G>A n.3241G>A c.4013G>A c.5218G>A (p.Gly1740Ser) n.956G>A c.5161G>A (p.Gly1721Ser) c.5227G>A (p.Gly1743Ser) c.5152G>A (p.Gly1718Ser) n.3007G>A c.5284G>A (p.Gly1762Ser) c.5230G>A (p.Gly1744Ser) c.5245G>A (p.Gly1749Ser) c.5155G>A (p.Gly1719Ser) c.5280G>A n.3443G>A c.5353G>A (p.Gly1785Ser) n.4174G>A n.2611G>A n.2582G>A n.2472G>A c.5014G>A (p.Gly1672Ser) c.*4526G>A (n.*4526G>A) c.5050G>A (p.Gly1684Ser) n.3082G>A c.1541G>A n.2474G>A c.5413G>A (p.Gly1805Ser) c.5410G>A (p.Gly1804Ser) c.5302G>A (p.Gly1768Ser) c.5281G>A (p.Gly1761Ser) c.4627G>A (p.Gly1543Ser) c.5575G>A (p.Gly1859Ser) c.5323G>A (p.Gly1775Ser) c.4069G>A (p.Gly1357Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088545G>C | CA394315814 | TSC2 | c.*3708G>C (n.*3708G>C) c.5206G>C (p.Gly1736Arg) c.5356G>C (p.Gly1786Arg) c.*5872G>C (n.*5872G>C) c.*8108G>C (n.*8108G>C) c.5359G>C (p.Gly1787Arg) c.5290G>C (p.Gly1764Arg) c.5158G>C (p.Gly1720Arg) c.5191G>C (p.Gly1731Arg) c.1582G>C n.3241G>C c.4013G>C c.5218G>C (p.Gly1740Arg) n.956G>C c.5161G>C (p.Gly1721Arg) c.5227G>C (p.Gly1743Arg) c.5152G>C (p.Gly1718Arg) n.3007G>C c.5284G>C (p.Gly1762Arg) c.5230G>C (p.Gly1744Arg) c.5245G>C (p.Gly1749Arg) c.5155G>C (p.Gly1719Arg) c.5280G>C n.3443G>C c.5353G>C (p.Gly1785Arg) n.4174G>C n.2611G>C n.2582G>C n.2472G>C c.5014G>C (p.Gly1672Arg) c.*4526G>C (n.*4526G>C) c.5050G>C (p.Gly1684Arg) n.3082G>C c.1541G>C n.2474G>C c.5413G>C (p.Gly1805Arg) c.5410G>C (p.Gly1804Arg) c.5302G>C (p.Gly1768Arg) c.5281G>C (p.Gly1761Arg) c.4627G>C (p.Gly1543Arg) c.5575G>C (p.Gly1859Arg) c.5323G>C (p.Gly1775Arg) c.4069G>C (p.Gly1357Arg) | ClinVar |
16 | g.2088545G= | CA2202034158 | TSC2 | c.*3708G= (n.*3708G=) c.5206G= (p.Gly1736=) c.5356G= (p.Gly1786=) c.*5872G= (n.*5872G=) c.*8108G= (n.*8108G=) c.5359G= (p.Gly1787=) c.5290G= (p.Gly1764=) c.5158G= (p.Gly1720=) c.5191G= (p.Gly1731=) c.1582G= n.3241G= c.4013G= c.5218G= (p.Gly1740=) n.956G= c.5161G= (p.Gly1721=) c.5227G= (p.Gly1743=) c.5152G= (p.Gly1718=) n.3007G= c.5284G= (p.Gly1762=) c.5230G= (p.Gly1744=) c.5245G= (p.Gly1749=) c.5155G= (p.Gly1719=) c.5280G= n.3443G= c.5353G= (p.Gly1785=) n.4174G= n.2611G= n.2582G= n.2472G= c.5014G= (p.Gly1672=) c.*4526G= (n.*4526G=) c.5050G= (p.Gly1684=) n.3082G= c.1541G= n.2474G= c.5413G= (p.Gly1805=) c.5410G= (p.Gly1804=) c.5302G= (p.Gly1768=) c.5281G= (p.Gly1761=) c.4627G= (p.Gly1543=) c.5575G= (p.Gly1859=) c.5323G= (p.Gly1775=) c.4069G= (p.Gly1357=) | |
16 | g.2088545G>T | CA394315815 | TSC2 | c.*3708G>T (n.*3708G>T) c.5206G>T (p.Gly1736Cys) c.5356G>T (p.Gly1786Cys) c.*5872G>T (n.*5872G>T) c.*8108G>T (n.*8108G>T) c.5359G>T (p.Gly1787Cys) c.5290G>T (p.Gly1764Cys) c.5158G>T (p.Gly1720Cys) c.5191G>T (p.Gly1731Cys) c.1582G>T n.3241G>T c.4013G>T c.5218G>T (p.Gly1740Cys) n.956G>T c.5161G>T (p.Gly1721Cys) c.5227G>T (p.Gly1743Cys) c.5152G>T (p.Gly1718Cys) n.3007G>T c.5284G>T (p.Gly1762Cys) c.5230G>T (p.Gly1744Cys) c.5245G>T (p.Gly1749Cys) c.5155G>T (p.Gly1719Cys) c.5280G>T n.3443G>T c.5353G>T (p.Gly1785Cys) n.4174G>T n.2611G>T n.2582G>T n.2472G>T c.5014G>T (p.Gly1672Cys) c.*4526G>T (n.*4526G>T) c.5050G>T (p.Gly1684Cys) n.3082G>T c.1541G>T n.2474G>T c.5413G>T (p.Gly1805Cys) c.5410G>T (p.Gly1804Cys) c.5302G>T (p.Gly1768Cys) c.5281G>T (p.Gly1761Cys) c.4627G>T (p.Gly1543Cys) c.5575G>T (p.Gly1859Cys) c.5323G>T (p.Gly1775Cys) c.4069G>T (p.Gly1357Cys) | |
16 | g.2088546G>A | CA394315816 | TSC2 | c.*3709G>A (n.*3709G>A) c.5207G>A (p.Gly1736Asp) c.5357G>A (p.Gly1786Asp) c.*5873G>A (n.*5873G>A) c.*8109G>A (n.*8109G>A) c.5360G>A (p.Gly1787Asp) c.5291G>A (p.Gly1764Asp) c.5159G>A (p.Gly1720Asp) c.5192G>A (p.Gly1731Asp) c.1583G>A n.3242G>A c.4014G>A c.5219G>A (p.Gly1740Asp) n.957G>A c.5162G>A (p.Gly1721Asp) c.5228G>A (p.Gly1743Asp) c.5153G>A (p.Gly1718Asp) n.3008G>A c.5285G>A (p.Gly1762Asp) c.5231G>A (p.Gly1744Asp) c.5246G>A (p.Gly1749Asp) c.5156G>A (p.Gly1719Asp) c.5281G>A n.3444G>A c.5354G>A (p.Gly1785Asp) n.4175G>A n.2612G>A n.2583G>A n.2473G>A c.5015G>A (p.Gly1672Asp) c.*4527G>A (n.*4527G>A) c.5051G>A (p.Gly1684Asp) n.3083G>A c.1542G>A n.2475G>A c.5414G>A (p.Gly1805Asp) c.5411G>A (p.Gly1804Asp) c.5303G>A (p.Gly1768Asp) c.5282G>A (p.Gly1761Asp) c.4628G>A (p.Gly1543Asp) c.5576G>A (p.Gly1859Asp) c.5324G>A (p.Gly1775Asp) c.4070G>A (p.Gly1357Asp) | ClinVar |
16 | g.2088546G>C | CA394315818 | TSC2 | c.*3709G>C (n.*3709G>C) c.5207G>C (p.Gly1736Ala) c.5357G>C (p.Gly1786Ala) c.*5873G>C (n.*5873G>C) c.*8109G>C (n.*8109G>C) c.5360G>C (p.Gly1787Ala) c.5291G>C (p.Gly1764Ala) c.5159G>C (p.Gly1720Ala) c.5192G>C (p.Gly1731Ala) c.1583G>C n.3242G>C c.4014G>C c.5219G>C (p.Gly1740Ala) n.957G>C c.5162G>C (p.Gly1721Ala) c.5228G>C (p.Gly1743Ala) c.5153G>C (p.Gly1718Ala) n.3008G>C c.5285G>C (p.Gly1762Ala) c.5231G>C (p.Gly1744Ala) c.5246G>C (p.Gly1749Ala) c.5156G>C (p.Gly1719Ala) c.5281G>C n.3444G>C c.5354G>C (p.Gly1785Ala) n.4175G>C n.2612G>C n.2583G>C n.2473G>C c.5015G>C (p.Gly1672Ala) c.*4527G>C (n.*4527G>C) c.5051G>C (p.Gly1684Ala) n.3083G>C c.1542G>C n.2475G>C c.5414G>C (p.Gly1805Ala) c.5411G>C (p.Gly1804Ala) c.5303G>C (p.Gly1768Ala) c.5282G>C (p.Gly1761Ala) c.4628G>C (p.Gly1543Ala) c.5576G>C (p.Gly1859Ala) c.5324G>C (p.Gly1775Ala) c.4070G>C (p.Gly1357Ala) | |
16 | g.2088546G>T | CA394315817 | TSC2 | c.*3709G>T (n.*3709G>T) c.5207G>T (p.Gly1736Val) c.5357G>T (p.Gly1786Val) c.*5873G>T (n.*5873G>T) c.*8109G>T (n.*8109G>T) c.5360G>T (p.Gly1787Val) c.5291G>T (p.Gly1764Val) c.5159G>T (p.Gly1720Val) c.5192G>T (p.Gly1731Val) c.1583G>T n.3242G>T c.4014G>T c.5219G>T (p.Gly1740Val) n.957G>T c.5162G>T (p.Gly1721Val) c.5228G>T (p.Gly1743Val) c.5153G>T (p.Gly1718Val) n.3008G>T c.5285G>T (p.Gly1762Val) c.5231G>T (p.Gly1744Val) c.5246G>T (p.Gly1749Val) c.5156G>T (p.Gly1719Val) c.5281G>T n.3444G>T c.5354G>T (p.Gly1785Val) n.4175G>T n.2612G>T n.2583G>T n.2473G>T c.5015G>T (p.Gly1672Val) c.*4527G>T (n.*4527G>T) c.5051G>T (p.Gly1684Val) n.3083G>T c.1542G>T n.2475G>T c.5414G>T (p.Gly1805Val) c.5411G>T (p.Gly1804Val) c.5303G>T (p.Gly1768Val) c.5282G>T (p.Gly1761Val) c.4628G>T (p.Gly1543Val) c.5576G>T (p.Gly1859Val) c.5324G>T (p.Gly1775Val) c.4070G>T (p.Gly1357Val) | |
16 | g.2088547C>A | CA493043737 | TSC2 | c.*3710C>A (n.*3710C>A) c.5208C>A (p.Gly1736=) c.5358C>A (p.Gly1786=) c.*5874C>A (n.*5874C>A) c.*8110C>A (n.*8110C>A) c.5361C>A (p.Gly1787=) c.5292C>A (p.Gly1764=) c.5160C>A (p.Gly1720=) c.5193C>A (p.Gly1731=) c.1584C>A n.3243C>A c.4015C>A c.5220C>A (p.Gly1740=) n.958C>A c.5163C>A (p.Gly1721=) c.5229C>A (p.Gly1743=) c.5154C>A (p.Gly1718=) n.3009C>A c.5286C>A (p.Gly1762=) c.5232C>A (p.Gly1744=) c.5247C>A (p.Gly1749=) c.5157C>A (p.Gly1719=) c.5282C>A n.3445C>A c.5355C>A (p.Gly1785=) n.4176C>A n.2613C>A n.2584C>A n.2474C>A c.5016C>A (p.Gly1672=) c.*4528C>A (n.*4528C>A) c.5052C>A (p.Gly1684=) n.3084C>A c.1543C>A n.2476C>A c.5415C>A (p.Gly1805=) c.5412C>A (p.Gly1804=) c.5304C>A (p.Gly1768=) c.5283C>A (p.Gly1761=) c.4629C>A (p.Gly1543=) c.5577C>A (p.Gly1859=) c.5325C>A (p.Gly1775=) c.4071C>A (p.Gly1357=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088547C= | CA2202034166 | TSC2 | c.*3710C= (n.*3710C=) c.5208C= (p.Gly1736=) c.5358C= (p.Gly1786=) c.*5874C= (n.*5874C=) c.*8110C= (n.*8110C=) c.5361C= (p.Gly1787=) c.5292C= (p.Gly1764=) c.5160C= (p.Gly1720=) c.5193C= (p.Gly1731=) c.1584C= n.3243C= c.4015C= c.5220C= (p.Gly1740=) n.958C= c.5163C= (p.Gly1721=) c.5229C= (p.Gly1743=) c.5154C= (p.Gly1718=) n.3009C= c.5286C= (p.Gly1762=) c.5232C= (p.Gly1744=) c.5247C= (p.Gly1749=) c.5157C= (p.Gly1719=) c.5282C= n.3445C= c.5355C= (p.Gly1785=) n.4176C= n.2613C= n.2584C= n.2474C= c.5016C= (p.Gly1672=) c.*4528C= (n.*4528C=) c.5052C= (p.Gly1684=) n.3084C= c.1543C= n.2476C= c.5415C= (p.Gly1805=) c.5412C= (p.Gly1804=) c.5304C= (p.Gly1768=) c.5283C= (p.Gly1761=) c.4629C= (p.Gly1543=) c.5577C= (p.Gly1859=) c.5325C= (p.Gly1775=) c.4071C= (p.Gly1357=) | |
16 | g.2088547C>G | CA493043738 | TSC2 | c.*3710C>G (n.*3710C>G) c.5208C>G (p.Gly1736=) c.5358C>G (p.Gly1786=) c.*5874C>G (n.*5874C>G) c.*8110C>G (n.*8110C>G) c.5361C>G (p.Gly1787=) c.5292C>G (p.Gly1764=) c.5160C>G (p.Gly1720=) c.5193C>G (p.Gly1731=) c.1584C>G n.3243C>G c.4015C>G c.5220C>G (p.Gly1740=) n.958C>G c.5163C>G (p.Gly1721=) c.5229C>G (p.Gly1743=) c.5154C>G (p.Gly1718=) n.3009C>G c.5286C>G (p.Gly1762=) c.5232C>G (p.Gly1744=) c.5247C>G (p.Gly1749=) c.5157C>G (p.Gly1719=) c.5282C>G n.3445C>G c.5355C>G (p.Gly1785=) n.4176C>G n.2613C>G n.2584C>G n.2474C>G c.5016C>G (p.Gly1672=) c.*4528C>G (n.*4528C>G) c.5052C>G (p.Gly1684=) n.3084C>G c.1543C>G n.2476C>G c.5415C>G (p.Gly1805=) c.5412C>G (p.Gly1804=) c.5304C>G (p.Gly1768=) c.5283C>G (p.Gly1761=) c.4629C>G (p.Gly1543=) c.5577C>G (p.Gly1859=) c.5325C>G (p.Gly1775=) c.4071C>G (p.Gly1357=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088547C>T | CA493043739 | TSC2 | c.*3710C>T (n.*3710C>T) c.5208C>T (p.Gly1736=) c.5358C>T (p.Gly1786=) c.*5874C>T (n.*5874C>T) c.*8110C>T (n.*8110C>T) c.5361C>T (p.Gly1787=) c.5292C>T (p.Gly1764=) c.5160C>T (p.Gly1720=) c.5193C>T (p.Gly1731=) c.1584C>T n.3243C>T c.4015C>T c.5220C>T (p.Gly1740=) n.958C>T c.5163C>T (p.Gly1721=) c.5229C>T (p.Gly1743=) c.5154C>T (p.Gly1718=) n.3009C>T c.5286C>T (p.Gly1762=) c.5232C>T (p.Gly1744=) c.5247C>T (p.Gly1749=) c.5157C>T (p.Gly1719=) c.5282C>T n.3445C>T c.5355C>T (p.Gly1785=) n.4176C>T n.2613C>T n.2584C>T n.2474C>T c.5016C>T (p.Gly1672=) c.*4528C>T (n.*4528C>T) c.5052C>T (p.Gly1684=) n.3084C>T c.1543C>T n.2476C>T c.5415C>T (p.Gly1805=) c.5412C>T (p.Gly1804=) c.5304C>T (p.Gly1768=) c.5283C>T (p.Gly1761=) c.4629C>T (p.Gly1543=) c.5577C>T (p.Gly1859=) c.5325C>T (p.Gly1775=) c.4071C>T (p.Gly1357=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088547_2088563dup | CA2524666126 | TSC2 | c.*3710_*3726dup (n.*3710_*3726dup) c.5208_5224dup (p.Arg1742ProfsTer?) c.5358_5374dup (p.Arg1792ProfsTer?) c.*5874_*5890dup (n.*5874_*5890dup) c.*8110_*8126dup (n.*8110_*8126dup) c.5361_5377dup (p.Arg1793ProfsTer?) c.5292_5308dup (p.Arg1770ProfsTer?) c.5160_5176dup (p.Arg1726ProfsTer?) c.5193_5209dup (p.Arg1737ProfsTer?) c.1584_1600dup n.3243_3259dup c.4015_4031dup c.5220_5236dup (p.Arg1746ProfsTer?) n.958_974dup c.5163_5179dup (p.Arg1727ProfsTer?) c.5229_5245dup (p.Arg1749ProfsTer?) c.5154_5170dup (p.Arg1724ProfsTer?) n.3009_3025dup c.5286_5302dup (p.Arg1768ProfsTer?) c.5232_5248dup (p.Arg1750ProfsTer?) c.5247_5263dup (p.Arg1755ProfsTer?) c.5157_5173dup (p.Arg1725ProfsTer?) c.5282_5298dup n.3445_3461dup c.5355_5371dup (p.Arg1791ProfsTer?) n.4176_4192dup n.2613_2629dup n.2584_2600dup n.2474_2490dup c.5016_5032dup (p.Arg1678ProfsTer?) c.*4528_*4544dup (n.*4528_*4544dup) c.5052_5068dup (p.Arg1690ProfsTer?) n.3084_3100dup c.1543_1559dup n.2476_2492dup c.5415_5431dup (p.Arg1811ProfsTer?) c.5412_5428dup (p.Arg1810ProfsTer?) c.5304_5320dup (p.Arg1774ProfsTer?) c.5283_5299dup (p.Arg1767ProfsTer?) c.4629_4645dup (p.Arg1549ProfsTer?) c.5577_5593dup (p.Arg1865ProfsTer?) c.5325_5341dup (p.Arg1781ProfsTer?) c.4071_4087dup (p.Arg1363ProfsTer?) | |
16 | g.2088548T>A | CA394315821 | TSC2 | c.*3711T>A (n.*3711T>A) c.5209T>A (p.Tyr1737Asn) c.5359T>A (p.Tyr1787Asn) c.*5875T>A (n.*5875T>A) c.*8111T>A (n.*8111T>A) c.5362T>A (p.Tyr1788Asn) c.5293T>A (p.Tyr1765Asn) c.5161T>A (p.Tyr1721Asn) c.5194T>A (p.Tyr1732Asn) c.1585T>A n.3244T>A c.4016T>A c.5221T>A (p.Tyr1741Asn) n.959T>A c.5164T>A (p.Tyr1722Asn) c.5230T>A (p.Tyr1744Asn) c.5155T>A (p.Tyr1719Asn) n.3010T>A c.5287T>A (p.Tyr1763Asn) c.5233T>A (p.Tyr1745Asn) c.5248T>A (p.Tyr1750Asn) c.5158T>A (p.Tyr1720Asn) c.5283T>A n.3446T>A c.5356T>A (p.Tyr1786Asn) n.4177T>A n.2614T>A n.2585T>A n.2475T>A c.5017T>A (p.Tyr1673Asn) c.*4529T>A (n.*4529T>A) c.5053T>A (p.Tyr1685Asn) n.3085T>A c.1544T>A n.2477T>A c.5416T>A (p.Tyr1806Asn) c.5413T>A (p.Tyr1805Asn) c.5305T>A (p.Tyr1769Asn) c.5284T>A (p.Tyr1762Asn) c.4630T>A (p.Tyr1544Asn) c.5578T>A (p.Tyr1860Asn) c.5326T>A (p.Tyr1776Asn) c.4072T>A (p.Tyr1358Asn) | |
16 | g.2088548T>C | CA16615053 | TSC2 | c.*3711T>C (n.*3711T>C) c.5209T>C (p.Tyr1737His) c.5359T>C (p.Tyr1787His) c.*5875T>C (n.*5875T>C) c.*8111T>C (n.*8111T>C) c.5362T>C (p.Tyr1788His) c.5293T>C (p.Tyr1765His) c.5161T>C (p.Tyr1721His) c.5194T>C (p.Tyr1732His) c.1585T>C n.3244T>C c.4016T>C c.5221T>C (p.Tyr1741His) n.959T>C c.5164T>C (p.Tyr1722His) c.5230T>C (p.Tyr1744His) c.5155T>C (p.Tyr1719His) n.3010T>C c.5287T>C (p.Tyr1763His) c.5233T>C (p.Tyr1745His) c.5248T>C (p.Tyr1750His) c.5158T>C (p.Tyr1720His) c.5283T>C n.3446T>C c.5356T>C (p.Tyr1786His) n.4177T>C n.2614T>C n.2585T>C n.2475T>C c.5017T>C (p.Tyr1673His) c.*4529T>C (n.*4529T>C) c.5053T>C (p.Tyr1685His) n.3085T>C c.1544T>C n.2477T>C c.5416T>C (p.Tyr1806His) c.5413T>C (p.Tyr1805His) c.5305T>C (p.Tyr1769His) c.5284T>C (p.Tyr1762His) c.4630T>C (p.Tyr1544His) c.5578T>C (p.Tyr1860His) c.5326T>C (p.Tyr1776His) c.4072T>C (p.Tyr1358His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.2088548T>G | CA276760060 | TSC2 | c.*3711T>G (n.*3711T>G) c.5209T>G (p.Tyr1737Asp) c.5359T>G (p.Tyr1787Asp) c.*5875T>G (n.*5875T>G) c.*8111T>G (n.*8111T>G) c.5362T>G (p.Tyr1788Asp) c.5293T>G (p.Tyr1765Asp) c.5161T>G (p.Tyr1721Asp) c.5194T>G (p.Tyr1732Asp) c.1585T>G n.3244T>G c.4016T>G c.5221T>G (p.Tyr1741Asp) n.959T>G c.5164T>G (p.Tyr1722Asp) c.5230T>G (p.Tyr1744Asp) c.5155T>G (p.Tyr1719Asp) n.3010T>G c.5287T>G (p.Tyr1763Asp) c.5233T>G (p.Tyr1745Asp) c.5248T>G (p.Tyr1750Asp) c.5158T>G (p.Tyr1720Asp) c.5283T>G n.3446T>G c.5356T>G (p.Tyr1786Asp) n.4177T>G n.2614T>G n.2585T>G n.2475T>G c.5017T>G (p.Tyr1673Asp) c.*4529T>G (n.*4529T>G) c.5053T>G (p.Tyr1685Asp) n.3085T>G c.1544T>G n.2477T>G c.5416T>G (p.Tyr1806Asp) c.5413T>G (p.Tyr1805Asp) c.5305T>G (p.Tyr1769Asp) c.5284T>G (p.Tyr1762Asp) c.4630T>G (p.Tyr1544Asp) c.5578T>G (p.Tyr1860Asp) c.5326T>G (p.Tyr1776Asp) c.4072T>G (p.Tyr1358Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088548T= | CA2202034178 | TSC2 | c.*3711T= (n.*3711T=) c.5209T= (p.Tyr1737=) c.5359T= (p.Tyr1787=) c.*5875T= (n.*5875T=) c.*8111T= (n.*8111T=) c.5362T= (p.Tyr1788=) c.5293T= (p.Tyr1765=) c.5161T= (p.Tyr1721=) c.5194T= (p.Tyr1732=) c.1585T= n.3244T= c.4016T= c.5221T= (p.Tyr1741=) n.959T= c.5164T= (p.Tyr1722=) c.5230T= (p.Tyr1744=) c.5155T= (p.Tyr1719=) n.3010T= c.5287T= (p.Tyr1763=) c.5233T= (p.Tyr1745=) c.5248T= (p.Tyr1750=) c.5158T= (p.Tyr1720=) c.5283T= n.3446T= c.5356T= (p.Tyr1786=) n.4177T= n.2614T= n.2585T= n.2475T= c.5017T= (p.Tyr1673=) c.*4529T= (n.*4529T=) c.5053T= (p.Tyr1685=) n.3085T= c.1544T= n.2477T= c.5416T= (p.Tyr1806=) c.5413T= (p.Tyr1805=) c.5305T= (p.Tyr1769=) c.5284T= (p.Tyr1762=) c.4630T= (p.Tyr1544=) c.5578T= (p.Tyr1860=) c.5326T= (p.Tyr1776=) c.4072T= (p.Tyr1358=) | |
16 | g.2088549A= | CA2202034184 | TSC2 | c.*3712A= (n.*3712A=) c.5210A= (p.Tyr1737=) c.5360A= (p.Tyr1787=) c.*5876A= (n.*5876A=) c.*8112A= (n.*8112A=) c.5363A= (p.Tyr1788=) c.5294A= (p.Tyr1765=) c.5162A= (p.Tyr1721=) c.5195A= (p.Tyr1732=) c.1586A= n.3245A= c.4017A= c.5222A= (p.Tyr1741=) n.960A= c.5165A= (p.Tyr1722=) c.5231A= (p.Tyr1744=) c.5156A= (p.Tyr1719=) n.3011A= c.5288A= (p.Tyr1763=) c.5234A= (p.Tyr1745=) c.5249A= (p.Tyr1750=) c.5159A= (p.Tyr1720=) c.5284A= n.3447A= c.5357A= (p.Tyr1786=) n.4178A= n.2615A= n.2586A= n.2476A= c.5018A= (p.Tyr1673=) c.*4530A= (n.*4530A=) c.5054A= (p.Tyr1685=) n.3086A= c.1545A= n.2478A= c.5417A= (p.Tyr1806=) c.5414A= (p.Tyr1805=) c.5306A= (p.Tyr1769=) c.5285A= (p.Tyr1762=) c.4631A= (p.Tyr1544=) c.5579A= (p.Tyr1860=) c.5327A= (p.Tyr1776=) c.4073A= (p.Tyr1358=) | |
16 | g.2088549A>C | CA394315826 | TSC2 | c.*3712A>C (n.*3712A>C) c.5210A>C (p.Tyr1737Ser) c.5360A>C (p.Tyr1787Ser) c.*5876A>C (n.*5876A>C) c.*8112A>C (n.*8112A>C) c.5363A>C (p.Tyr1788Ser) c.5294A>C (p.Tyr1765Ser) c.5162A>C (p.Tyr1721Ser) c.5195A>C (p.Tyr1732Ser) c.1586A>C n.3245A>C c.4017A>C c.5222A>C (p.Tyr1741Ser) n.960A>C c.5165A>C (p.Tyr1722Ser) c.5231A>C (p.Tyr1744Ser) c.5156A>C (p.Tyr1719Ser) n.3011A>C c.5288A>C (p.Tyr1763Ser) c.5234A>C (p.Tyr1745Ser) c.5249A>C (p.Tyr1750Ser) c.5159A>C (p.Tyr1720Ser) c.5284A>C n.3447A>C c.5357A>C (p.Tyr1786Ser) n.4178A>C n.2615A>C n.2586A>C n.2476A>C c.5018A>C (p.Tyr1673Ser) c.*4530A>C (n.*4530A>C) c.5054A>C (p.Tyr1685Ser) n.3086A>C c.1545A>C n.2478A>C c.5417A>C (p.Tyr1806Ser) c.5414A>C (p.Tyr1805Ser) c.5306A>C (p.Tyr1769Ser) c.5285A>C (p.Tyr1762Ser) c.4631A>C (p.Tyr1544Ser) c.5579A>C (p.Tyr1860Ser) c.5327A>C (p.Tyr1776Ser) c.4073A>C (p.Tyr1358Ser) | ClinVar dbSNP |
16 | g.2088549A>G | CA055219 | TSC2 | c.*3712A>G (n.*3712A>G) c.5210A>G (p.Tyr1737Cys) c.5360A>G (p.Tyr1787Cys) c.*5876A>G (n.*5876A>G) c.*8112A>G (n.*8112A>G) c.5363A>G (p.Tyr1788Cys) c.5294A>G (p.Tyr1765Cys) c.5162A>G (p.Tyr1721Cys) c.5195A>G (p.Tyr1732Cys) c.1586A>G n.3245A>G c.4017A>G c.5222A>G (p.Tyr1741Cys) n.960A>G c.5165A>G (p.Tyr1722Cys) c.5231A>G (p.Tyr1744Cys) c.5156A>G (p.Tyr1719Cys) n.3011A>G c.5288A>G (p.Tyr1763Cys) c.5234A>G (p.Tyr1745Cys) c.5249A>G (p.Tyr1750Cys) c.5159A>G (p.Tyr1720Cys) c.5284A>G n.3447A>G c.5357A>G (p.Tyr1786Cys) n.4178A>G n.2615A>G n.2586A>G n.2476A>G c.5018A>G (p.Tyr1673Cys) c.*4530A>G (n.*4530A>G) c.5054A>G (p.Tyr1685Cys) n.3086A>G c.1545A>G n.2478A>G c.5417A>G (p.Tyr1806Cys) c.5414A>G (p.Tyr1805Cys) c.5306A>G (p.Tyr1769Cys) c.5285A>G (p.Tyr1762Cys) c.4631A>G (p.Tyr1544Cys) c.5579A>G (p.Tyr1860Cys) c.5327A>G (p.Tyr1776Cys) c.4073A>G (p.Tyr1358Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088549A>T | CA022414 | TSC2 | c.*3712A>T (n.*3712A>T) c.5210A>T (p.Tyr1737Phe) c.5360A>T (p.Tyr1787Phe) c.*5876A>T (n.*5876A>T) c.*8112A>T (n.*8112A>T) c.5363A>T (p.Tyr1788Phe) c.5294A>T (p.Tyr1765Phe) c.5162A>T (p.Tyr1721Phe) c.5195A>T (p.Tyr1732Phe) c.1586A>T n.3245A>T c.4017A>T c.5222A>T (p.Tyr1741Phe) n.960A>T c.5165A>T (p.Tyr1722Phe) c.5231A>T (p.Tyr1744Phe) c.5156A>T (p.Tyr1719Phe) n.3011A>T c.5288A>T (p.Tyr1763Phe) c.5234A>T (p.Tyr1745Phe) c.5249A>T (p.Tyr1750Phe) c.5159A>T (p.Tyr1720Phe) c.5284A>T n.3447A>T c.5357A>T (p.Tyr1786Phe) n.4178A>T n.2615A>T n.2586A>T n.2476A>T c.5018A>T (p.Tyr1673Phe) c.*4530A>T (n.*4530A>T) c.5054A>T (p.Tyr1685Phe) n.3086A>T c.1545A>T n.2478A>T c.5417A>T (p.Tyr1806Phe) c.5414A>T (p.Tyr1805Phe) c.5306A>T (p.Tyr1769Phe) c.5285A>T (p.Tyr1762Phe) c.4631A>T (p.Tyr1544Phe) c.5579A>T (p.Tyr1860Phe) c.5327A>T (p.Tyr1776Phe) c.4073A>T (p.Tyr1358Phe) | ClinVar dbSNP |
16 | g.2088550T>A | CA394315845 | TSC2 | c.*3713T>A (n.*3713T>A) c.5211T>A (p.Tyr1737Ter) c.5361T>A (p.Tyr1787Ter) c.*5877T>A (n.*5877T>A) c.*8113T>A (n.*8113T>A) c.5364T>A (p.Tyr1788Ter) c.5295T>A (p.Tyr1765Ter) c.5163T>A (p.Tyr1721Ter) c.5196T>A (p.Tyr1732Ter) c.1587T>A n.3246T>A c.4018T>A c.5223T>A (p.Tyr1741Ter) n.961T>A c.5166T>A (p.Tyr1722Ter) c.5232T>A (p.Tyr1744Ter) c.5157T>A (p.Tyr1719Ter) n.3012T>A c.5289T>A (p.Tyr1763Ter) c.5235T>A (p.Tyr1745Ter) c.5250T>A (p.Tyr1750Ter) c.5160T>A (p.Tyr1720Ter) c.5285T>A n.3448T>A c.5358T>A (p.Tyr1786Ter) n.4179T>A n.2616T>A n.2587T>A n.2477T>A c.5019T>A (p.Tyr1673Ter) c.*4531T>A (n.*4531T>A) c.5055T>A (p.Tyr1685Ter) n.3087T>A c.1546T>A n.2479T>A c.5418T>A (p.Tyr1806Ter) c.5415T>A (p.Tyr1805Ter) c.5307T>A (p.Tyr1769Ter) c.5286T>A (p.Tyr1762Ter) c.4632T>A (p.Tyr1544Ter) c.5580T>A (p.Tyr1860Ter) c.5328T>A (p.Tyr1776Ter) c.4074T>A (p.Tyr1358Ter) | ClinVar |
16 | g.2088550T>C | CA055226 | TSC2 | c.*3713T>C (n.*3713T>C) c.5211T>C (p.Tyr1737=) c.5361T>C (p.Tyr1787=) c.*5877T>C (n.*5877T>C) c.*8113T>C (n.*8113T>C) c.5364T>C (p.Tyr1788=) c.5295T>C (p.Tyr1765=) c.5163T>C (p.Tyr1721=) c.5196T>C (p.Tyr1732=) c.1587T>C n.3246T>C c.4018T>C c.5223T>C (p.Tyr1741=) n.961T>C c.5166T>C (p.Tyr1722=) c.5232T>C (p.Tyr1744=) c.5157T>C (p.Tyr1719=) n.3012T>C c.5289T>C (p.Tyr1763=) c.5235T>C (p.Tyr1745=) c.5250T>C (p.Tyr1750=) c.5160T>C (p.Tyr1720=) c.5285T>C n.3448T>C c.5358T>C (p.Tyr1786=) n.4179T>C n.2616T>C n.2587T>C n.2477T>C c.5019T>C (p.Tyr1673=) c.*4531T>C (n.*4531T>C) c.5055T>C (p.Tyr1685=) n.3087T>C c.1546T>C n.2479T>C c.5418T>C (p.Tyr1806=) c.5415T>C (p.Tyr1805=) c.5307T>C (p.Tyr1769=) c.5286T>C (p.Tyr1762=) c.4632T>C (p.Tyr1544=) c.5580T>C (p.Tyr1860=) c.5328T>C (p.Tyr1776=) c.4074T>C (p.Tyr1358=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088550T>G | CA394315850 | TSC2 | c.*3713T>G (n.*3713T>G) c.5211T>G (p.Tyr1737Ter) c.5361T>G (p.Tyr1787Ter) c.*5877T>G (n.*5877T>G) c.*8113T>G (n.*8113T>G) c.5364T>G (p.Tyr1788Ter) c.5295T>G (p.Tyr1765Ter) c.5163T>G (p.Tyr1721Ter) c.5196T>G (p.Tyr1732Ter) c.1587T>G n.3246T>G c.4018T>G c.5223T>G (p.Tyr1741Ter) n.961T>G c.5166T>G (p.Tyr1722Ter) c.5232T>G (p.Tyr1744Ter) c.5157T>G (p.Tyr1719Ter) n.3012T>G c.5289T>G (p.Tyr1763Ter) c.5235T>G (p.Tyr1745Ter) c.5250T>G (p.Tyr1750Ter) c.5160T>G (p.Tyr1720Ter) c.5285T>G n.3448T>G c.5358T>G (p.Tyr1786Ter) n.4179T>G n.2616T>G n.2587T>G n.2477T>G c.5019T>G (p.Tyr1673Ter) c.*4531T>G (n.*4531T>G) c.5055T>G (p.Tyr1685Ter) n.3087T>G c.1546T>G n.2479T>G c.5418T>G (p.Tyr1806Ter) c.5415T>G (p.Tyr1805Ter) c.5307T>G (p.Tyr1769Ter) c.5286T>G (p.Tyr1762Ter) c.4632T>G (p.Tyr1544Ter) c.5580T>G (p.Tyr1860Ter) c.5328T>G (p.Tyr1776Ter) c.4074T>G (p.Tyr1358Ter) | ClinVar dbSNP |
16 | g.2088550T= | CA2202034201 | TSC2 | c.*3713T= (n.*3713T=) c.5211T= (p.Tyr1737=) c.5361T= (p.Tyr1787=) c.*5877T= (n.*5877T=) c.*8113T= (n.*8113T=) c.5364T= (p.Tyr1788=) c.5295T= (p.Tyr1765=) c.5163T= (p.Tyr1721=) c.5196T= (p.Tyr1732=) c.1587T= n.3246T= c.4018T= c.5223T= (p.Tyr1741=) n.961T= c.5166T= (p.Tyr1722=) c.5232T= (p.Tyr1744=) c.5157T= (p.Tyr1719=) n.3012T= c.5289T= (p.Tyr1763=) c.5235T= (p.Tyr1745=) c.5250T= (p.Tyr1750=) c.5160T= (p.Tyr1720=) c.5285T= n.3448T= c.5358T= (p.Tyr1786=) n.4179T= n.2616T= n.2587T= n.2477T= c.5019T= (p.Tyr1673=) c.*4531T= (n.*4531T=) c.5055T= (p.Tyr1685=) n.3087T= c.1546T= n.2479T= c.5418T= (p.Tyr1806=) c.5415T= (p.Tyr1805=) c.5307T= (p.Tyr1769=) c.5286T= (p.Tyr1762=) c.4632T= (p.Tyr1544=) c.5580T= (p.Tyr1860=) c.5328T= (p.Tyr1776=) c.4074T= (p.Tyr1358=) | |
16 | g.2088551G>A | CA394315853 | TSC2 | c.*3714G>A (n.*3714G>A) c.5212G>A (p.Glu1738Lys) c.5362G>A (p.Glu1788Lys) c.*5878G>A (n.*5878G>A) c.*8114G>A (n.*8114G>A) c.5365G>A (p.Glu1789Lys) c.5296G>A (p.Glu1766Lys) c.5164G>A (p.Glu1722Lys) c.5197G>A (p.Glu1733Lys) c.1588G>A n.3247G>A c.4019G>A c.5224G>A (p.Glu1742Lys) n.962G>A c.5167G>A (p.Glu1723Lys) c.5233G>A (p.Glu1745Lys) c.5158G>A (p.Glu1720Lys) n.3013G>A c.5290G>A (p.Glu1764Lys) c.5236G>A (p.Glu1746Lys) c.5251G>A (p.Glu1751Lys) c.5161G>A (p.Glu1721Lys) c.5286G>A n.3449G>A c.5359G>A (p.Glu1787Lys) n.4180G>A n.2617G>A n.2588G>A n.2478G>A c.5020G>A (p.Glu1674Lys) c.*4532G>A (n.*4532G>A) c.5056G>A (p.Glu1686Lys) n.3088G>A c.1547G>A n.2480G>A c.5419G>A (p.Glu1807Lys) c.5416G>A (p.Glu1806Lys) c.5308G>A (p.Glu1770Lys) c.5287G>A (p.Glu1763Lys) c.4633G>A (p.Glu1545Lys) c.5581G>A (p.Glu1861Lys) c.5329G>A (p.Glu1777Lys) c.4075G>A (p.Glu1359Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088551G>C | CA022419 | TSC2 | c.*3714G>C (n.*3714G>C) c.5212G>C (p.Glu1738Gln) c.5362G>C (p.Glu1788Gln) c.*5878G>C (n.*5878G>C) c.*8114G>C (n.*8114G>C) c.5365G>C (p.Glu1789Gln) c.5296G>C (p.Glu1766Gln) c.5164G>C (p.Glu1722Gln) c.5197G>C (p.Glu1733Gln) c.1588G>C n.3247G>C c.4019G>C c.5224G>C (p.Glu1742Gln) n.962G>C c.5167G>C (p.Glu1723Gln) c.5233G>C (p.Glu1745Gln) c.5158G>C (p.Glu1720Gln) n.3013G>C c.5290G>C (p.Glu1764Gln) c.5236G>C (p.Glu1746Gln) c.5251G>C (p.Glu1751Gln) c.5161G>C (p.Glu1721Gln) c.5286G>C n.3449G>C c.5359G>C (p.Glu1787Gln) n.4180G>C n.2617G>C n.2588G>C n.2478G>C c.5020G>C (p.Glu1674Gln) c.*4532G>C (n.*4532G>C) c.5056G>C (p.Glu1686Gln) n.3088G>C c.1547G>C n.2480G>C c.5419G>C (p.Glu1807Gln) c.5416G>C (p.Glu1806Gln) c.5308G>C (p.Glu1770Gln) c.5287G>C (p.Glu1763Gln) c.4633G>C (p.Glu1545Gln) c.5581G>C (p.Glu1861Gln) c.5329G>C (p.Glu1777Gln) c.4075G>C (p.Glu1359Gln) | ClinVar dbSNP |
16 | g.2088551G= | CA2202034207 | TSC2 | c.*3714G= (n.*3714G=) c.5212G= (p.Glu1738=) c.5362G= (p.Glu1788=) c.*5878G= (n.*5878G=) c.*8114G= (n.*8114G=) c.5365G= (p.Glu1789=) c.5296G= (p.Glu1766=) c.5164G= (p.Glu1722=) c.5197G= (p.Glu1733=) c.1588G= n.3247G= c.4019G= c.5224G= (p.Glu1742=) n.962G= c.5167G= (p.Glu1723=) c.5233G= (p.Glu1745=) c.5158G= (p.Glu1720=) n.3013G= c.5290G= (p.Glu1764=) c.5236G= (p.Glu1746=) c.5251G= (p.Glu1751=) c.5161G= (p.Glu1721=) c.5286G= n.3449G= c.5359G= (p.Glu1787=) n.4180G= n.2617G= n.2588G= n.2478G= c.5020G= (p.Glu1674=) c.*4532G= (n.*4532G=) c.5056G= (p.Glu1686=) n.3088G= c.1547G= n.2480G= c.5419G= (p.Glu1807=) c.5416G= (p.Glu1806=) c.5308G= (p.Glu1770=) c.5287G= (p.Glu1763=) c.4633G= (p.Glu1545=) c.5581G= (p.Glu1861=) c.5329G= (p.Glu1777=) c.4075G= (p.Glu1359=) | |
16 | g.2088551G>T | CA394315865 | TSC2 | c.*3714G>T (n.*3714G>T) c.5212G>T (p.Glu1738Ter) c.5362G>T (p.Glu1788Ter) c.*5878G>T (n.*5878G>T) c.*8114G>T (n.*8114G>T) c.5365G>T (p.Glu1789Ter) c.5296G>T (p.Glu1766Ter) c.5164G>T (p.Glu1722Ter) c.5197G>T (p.Glu1733Ter) c.1588G>T n.3247G>T c.4019G>T c.5224G>T (p.Glu1742Ter) n.962G>T c.5167G>T (p.Glu1723Ter) c.5233G>T (p.Glu1745Ter) c.5158G>T (p.Glu1720Ter) n.3013G>T c.5290G>T (p.Glu1764Ter) c.5236G>T (p.Glu1746Ter) c.5251G>T (p.Glu1751Ter) c.5161G>T (p.Glu1721Ter) c.5286G>T n.3449G>T c.5359G>T (p.Glu1787Ter) n.4180G>T n.2617G>T n.2588G>T n.2478G>T c.5020G>T (p.Glu1674Ter) c.*4532G>T (n.*4532G>T) c.5056G>T (p.Glu1686Ter) n.3088G>T c.1547G>T n.2480G>T c.5419G>T (p.Glu1807Ter) c.5416G>T (p.Glu1806Ter) c.5308G>T (p.Glu1770Ter) c.5287G>T (p.Glu1763Ter) c.4633G>T (p.Glu1545Ter) c.5581G>T (p.Glu1861Ter) c.5329G>T (p.Glu1777Ter) c.4075G>T (p.Glu1359Ter) | |
16 | g.2088552_2088554del | CA2573151991 | TSC2 | c.*3715_*3717del (n.*3715_*3717del) c.5213_5215del (p.Glu1738del) c.5363_5365del (p.Glu1788del) c.*5879_*5881del (n.*5879_*5881del) c.*8115_*8117del (n.*8115_*8117del) c.5366_5368del (p.Glu1789del) c.5297_5299del (p.Glu1766del) c.5165_5167del (p.Glu1722del) c.5198_5200del (p.Glu1733del) c.1589_1591del n.3248_3250del c.4020_4022del c.5225_5227del (p.Glu1742del) n.963_965del c.5168_5170del (p.Glu1723del) c.5234_5236del (p.Glu1745del) c.5159_5161del (p.Glu1720del) n.3014_3016del c.5291_5293del (p.Glu1764del) c.5237_5239del (p.Glu1746del) c.5252_5254del (p.Glu1751del) c.5162_5164del (p.Glu1721del) c.5287_5289del n.3450_3452del c.5360_5362del (p.Glu1787del) n.4181_4183del n.2618_2620del n.2589_2591del n.2479_2481del c.5021_5023del (p.Glu1674del) c.*4533_*4535del (n.*4533_*4535del) c.5057_5059del (p.Glu1686del) n.3089_3091del c.1548_1550del n.2481_2483del c.5420_5422del (p.Glu1807del) c.5417_5419del (p.Glu1806del) c.5309_5311del (p.Glu1770del) c.5288_5290del (p.Glu1763del) c.4634_4636del (p.Glu1545del) c.5582_5584del (p.Glu1861del) c.5330_5332del (p.Glu1777del) c.4076_4078del (p.Glu1359del) | ClinVar dbSNP |
16 | g.2088552del | CA2839343686 | TSC2 | c.*3715del (n.*3715del) c.5213del (p.Glu1738GlyfsTer?) c.5363del (p.Glu1788GlyfsTer?) c.*5879del (n.*5879del) c.*8115del (n.*8115del) c.5366del (p.Glu1789GlyfsTer?) c.5297del (p.Glu1766GlyfsTer?) c.5165del (p.Glu1722GlyfsTer?) c.5198del (p.Glu1733GlyfsTer?) c.1589del n.3248del c.4020del c.5225del (p.Glu1742GlyfsTer?) n.963del c.5168del (p.Glu1723GlyfsTer?) c.5234del (p.Glu1745GlyfsTer?) c.5159del (p.Glu1720GlyfsTer?) n.3014del c.5291del (p.Glu1764GlyfsTer?) c.5237del (p.Glu1746GlyfsTer?) c.5252del (p.Glu1751GlyfsTer?) c.5162del (p.Glu1721GlyfsTer?) c.5287del n.3450del c.5360del (p.Glu1787GlyfsTer?) n.4181del n.2618del n.2589del n.2479del c.5021del (p.Glu1674GlyfsTer?) c.*4533del (n.*4533del) c.5057del (p.Glu1686GlyfsTer?) n.3089del c.1548del n.2481del c.5420del (p.Glu1807GlyfsTer?) c.5417del (p.Glu1806GlyfsTer?) c.5309del (p.Glu1770GlyfsTer?) c.5288del (p.Glu1763GlyfsTer?) c.4634del (p.Glu1545GlyfsTer?) c.5582del (p.Glu1861GlyfsTer?) c.5330del (p.Glu1777GlyfsTer?) c.4076del (p.Glu1359GlyfsTer?) | |
16 | g.2088552A>C | CA394315877 | TSC2 | c.*3715A>C (n.*3715A>C) c.5213A>C (p.Glu1738Ala) c.5363A>C (p.Glu1788Ala) c.*5879A>C (n.*5879A>C) c.*8115A>C (n.*8115A>C) c.5366A>C (p.Glu1789Ala) c.5297A>C (p.Glu1766Ala) c.5165A>C (p.Glu1722Ala) c.5198A>C (p.Glu1733Ala) c.1589A>C n.3248A>C c.4020A>C c.5225A>C (p.Glu1742Ala) n.963A>C c.5168A>C (p.Glu1723Ala) c.5234A>C (p.Glu1745Ala) c.5159A>C (p.Glu1720Ala) n.3014A>C c.5291A>C (p.Glu1764Ala) c.5237A>C (p.Glu1746Ala) c.5252A>C (p.Glu1751Ala) c.5162A>C (p.Glu1721Ala) c.5287A>C n.3450A>C c.5360A>C (p.Glu1787Ala) n.4181A>C n.2618A>C n.2589A>C n.2479A>C c.5021A>C (p.Glu1674Ala) c.*4533A>C (n.*4533A>C) c.5057A>C (p.Glu1686Ala) n.3089A>C c.1548A>C n.2481A>C c.5420A>C (p.Glu1807Ala) c.5417A>C (p.Glu1806Ala) c.5309A>C (p.Glu1770Ala) c.5288A>C (p.Glu1763Ala) c.4634A>C (p.Glu1545Ala) c.5582A>C (p.Glu1861Ala) c.5330A>C (p.Glu1777Ala) c.4076A>C (p.Glu1359Ala) | |
16 | g.2088552A>G | CA394315867 | TSC2 | c.*3715A>G (n.*3715A>G) c.5213A>G (p.Glu1738Gly) c.5363A>G (p.Glu1788Gly) c.*5879A>G (n.*5879A>G) c.*8115A>G (n.*8115A>G) c.5366A>G (p.Glu1789Gly) c.5297A>G (p.Glu1766Gly) c.5165A>G (p.Glu1722Gly) c.5198A>G (p.Glu1733Gly) c.1589A>G n.3248A>G c.4020A>G c.5225A>G (p.Glu1742Gly) n.963A>G c.5168A>G (p.Glu1723Gly) c.5234A>G (p.Glu1745Gly) c.5159A>G (p.Glu1720Gly) n.3014A>G c.5291A>G (p.Glu1764Gly) c.5237A>G (p.Glu1746Gly) c.5252A>G (p.Glu1751Gly) c.5162A>G (p.Glu1721Gly) c.5287A>G n.3450A>G c.5360A>G (p.Glu1787Gly) n.4181A>G n.2618A>G n.2589A>G n.2479A>G c.5021A>G (p.Glu1674Gly) c.*4533A>G (n.*4533A>G) c.5057A>G (p.Glu1686Gly) n.3089A>G c.1548A>G n.2481A>G c.5420A>G (p.Glu1807Gly) c.5417A>G (p.Glu1806Gly) c.5309A>G (p.Glu1770Gly) c.5288A>G (p.Glu1763Gly) c.4634A>G (p.Glu1545Gly) c.5582A>G (p.Glu1861Gly) c.5330A>G (p.Glu1777Gly) c.4076A>G (p.Glu1359Gly) | |
16 | g.2088552A>T | CA394315869 | TSC2 | c.*3715A>T (n.*3715A>T) c.5213A>T (p.Glu1738Val) c.5363A>T (p.Glu1788Val) c.*5879A>T (n.*5879A>T) c.*8115A>T (n.*8115A>T) c.5366A>T (p.Glu1789Val) c.5297A>T (p.Glu1766Val) c.5165A>T (p.Glu1722Val) c.5198A>T (p.Glu1733Val) c.1589A>T n.3248A>T c.4020A>T c.5225A>T (p.Glu1742Val) n.963A>T c.5168A>T (p.Glu1723Val) c.5234A>T (p.Glu1745Val) c.5159A>T (p.Glu1720Val) n.3014A>T c.5291A>T (p.Glu1764Val) c.5237A>T (p.Glu1746Val) c.5252A>T (p.Glu1751Val) c.5162A>T (p.Glu1721Val) c.5287A>T n.3450A>T c.5360A>T (p.Glu1787Val) n.4181A>T n.2618A>T n.2589A>T n.2479A>T c.5021A>T (p.Glu1674Val) c.*4533A>T (n.*4533A>T) c.5057A>T (p.Glu1686Val) n.3089A>T c.1548A>T n.2481A>T c.5420A>T (p.Glu1807Val) c.5417A>T (p.Glu1806Val) c.5309A>T (p.Glu1770Val) c.5288A>T (p.Glu1763Val) c.4634A>T (p.Glu1545Val) c.5582A>T (p.Glu1861Val) c.5330A>T (p.Glu1777Val) c.4076A>T (p.Glu1359Val) | |
16 | g.2088553G>A | CA276760093 | TSC2 | c.*3716G>A (n.*3716G>A) c.5214G>A (p.Glu1738=) c.5364G>A (p.Glu1788=) c.*5880G>A (n.*5880G>A) c.*8116G>A (n.*8116G>A) c.5367G>A (p.Glu1789=) c.5298G>A (p.Glu1766=) c.5166G>A (p.Glu1722=) c.5199G>A (p.Glu1733=) c.1590G>A n.3249G>A c.4021G>A c.5226G>A (p.Glu1742=) n.964G>A c.5169G>A (p.Glu1723=) c.5235G>A (p.Glu1745=) c.5160G>A (p.Glu1720=) n.3015G>A c.5292G>A (p.Glu1764=) c.5238G>A (p.Glu1746=) c.5253G>A (p.Glu1751=) c.5163G>A (p.Glu1721=) c.5288G>A n.3451G>A c.5361G>A (p.Glu1787=) n.4182G>A n.2619G>A n.2590G>A n.2480G>A c.5022G>A (p.Glu1674=) c.*4534G>A (n.*4534G>A) c.5058G>A (p.Glu1686=) n.3090G>A c.1549G>A n.2482G>A c.5421G>A (p.Glu1807=) c.5418G>A (p.Glu1806=) c.5310G>A (p.Glu1770=) c.5289G>A (p.Glu1763=) c.4635G>A (p.Glu1545=) c.5583G>A (p.Glu1861=) c.5331G>A (p.Glu1777=) c.4077G>A (p.Glu1359=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.2088553G>C | CA394315884 | TSC2 | c.*3716G>C (n.*3716G>C) c.5214G>C (p.Glu1738Asp) c.5364G>C (p.Glu1788Asp) c.*5880G>C (n.*5880G>C) c.*8116G>C (n.*8116G>C) c.5367G>C (p.Glu1789Asp) c.5298G>C (p.Glu1766Asp) c.5166G>C (p.Glu1722Asp) c.5199G>C (p.Glu1733Asp) c.1590G>C n.3249G>C c.4021G>C c.5226G>C (p.Glu1742Asp) n.964G>C c.5169G>C (p.Glu1723Asp) c.5235G>C (p.Glu1745Asp) c.5160G>C (p.Glu1720Asp) n.3015G>C c.5292G>C (p.Glu1764Asp) c.5238G>C (p.Glu1746Asp) c.5253G>C (p.Glu1751Asp) c.5163G>C (p.Glu1721Asp) c.5288G>C n.3451G>C c.5361G>C (p.Glu1787Asp) n.4182G>C n.2619G>C n.2590G>C n.2480G>C c.5022G>C (p.Glu1674Asp) c.*4534G>C (n.*4534G>C) c.5058G>C (p.Glu1686Asp) n.3090G>C c.1549G>C n.2482G>C c.5421G>C (p.Glu1807Asp) c.5418G>C (p.Glu1806Asp) c.5310G>C (p.Glu1770Asp) c.5289G>C (p.Glu1763Asp) c.4635G>C (p.Glu1545Asp) c.5583G>C (p.Glu1861Asp) c.5331G>C (p.Glu1777Asp) c.4077G>C (p.Glu1359Asp) | ClinVar dbSNP gnomAD v4 |
16 | g.2088553G= | CA2202034213 | TSC2 | c.*3716G= (n.*3716G=) c.5214G= (p.Glu1738=) c.5364G= (p.Glu1788=) c.*5880G= (n.*5880G=) c.*8116G= (n.*8116G=) c.5367G= (p.Glu1789=) c.5298G= (p.Glu1766=) c.5166G= (p.Glu1722=) c.5199G= (p.Glu1733=) c.1590G= n.3249G= c.4021G= c.5226G= (p.Glu1742=) n.964G= c.5169G= (p.Glu1723=) c.5235G= (p.Glu1745=) c.5160G= (p.Glu1720=) n.3015G= c.5292G= (p.Glu1764=) c.5238G= (p.Glu1746=) c.5253G= (p.Glu1751=) c.5163G= (p.Glu1721=) c.5288G= n.3451G= c.5361G= (p.Glu1787=) n.4182G= n.2619G= n.2590G= n.2480G= c.5022G= (p.Glu1674=) c.*4534G= (n.*4534G=) c.5058G= (p.Glu1686=) n.3090G= c.1549G= n.2482G= c.5421G= (p.Glu1807=) c.5418G= (p.Glu1806=) c.5310G= (p.Glu1770=) c.5289G= (p.Glu1763=) c.4635G= (p.Glu1545=) c.5583G= (p.Glu1861=) c.5331G= (p.Glu1777=) c.4077G= (p.Glu1359=) | |
16 | g.2088553G>T | CA394315894 | TSC2 | c.*3716G>T (n.*3716G>T) c.5214G>T (p.Glu1738Asp) c.5364G>T (p.Glu1788Asp) c.*5880G>T (n.*5880G>T) c.*8116G>T (n.*8116G>T) c.5367G>T (p.Glu1789Asp) c.5298G>T (p.Glu1766Asp) c.5166G>T (p.Glu1722Asp) c.5199G>T (p.Glu1733Asp) c.1590G>T n.3249G>T c.4021G>T c.5226G>T (p.Glu1742Asp) n.964G>T c.5169G>T (p.Glu1723Asp) c.5235G>T (p.Glu1745Asp) c.5160G>T (p.Glu1720Asp) n.3015G>T c.5292G>T (p.Glu1764Asp) c.5238G>T (p.Glu1746Asp) c.5253G>T (p.Glu1751Asp) c.5163G>T (p.Glu1721Asp) c.5288G>T n.3451G>T c.5361G>T (p.Glu1787Asp) n.4182G>T n.2619G>T n.2590G>T n.2480G>T c.5022G>T (p.Glu1674Asp) c.*4534G>T (n.*4534G>T) c.5058G>T (p.Glu1686Asp) n.3090G>T c.1549G>T n.2482G>T c.5421G>T (p.Glu1807Asp) c.5418G>T (p.Glu1806Asp) c.5310G>T (p.Glu1770Asp) c.5289G>T (p.Glu1763Asp) c.4635G>T (p.Glu1545Asp) c.5583G>T (p.Glu1861Asp) c.5331G>T (p.Glu1777Asp) c.4077G>T (p.Glu1359Asp) | |
16 | g.2088554G>A | CA022424 | TSC2 | c.*3717G>A (n.*3717G>A) c.5215G>A (p.Val1739Met) c.5365G>A (p.Val1789Met) c.*5881G>A (n.*5881G>A) c.*8117G>A (n.*8117G>A) c.5368G>A (p.Val1790Met) c.5299G>A (p.Val1767Met) c.5167G>A (p.Val1723Met) c.5200G>A (p.Val1734Met) c.1591G>A n.3250G>A c.4022G>A c.5227G>A (p.Val1743Met) n.965G>A c.5170G>A (p.Val1724Met) c.5236G>A (p.Val1746Met) c.5161G>A (p.Val1721Met) n.3016G>A c.5293G>A (p.Val1765Met) c.5239G>A (p.Val1747Met) c.5254G>A (p.Val1752Met) c.5164G>A (p.Val1722Met) c.5289G>A n.3452G>A c.5362G>A (p.Val1788Met) n.4183G>A n.2620G>A n.2591G>A n.2481G>A c.5023G>A (p.Val1675Met) c.*4535G>A (n.*4535G>A) c.5059G>A (p.Val1687Met) n.3091G>A c.1550G>A n.2483G>A c.5422G>A (p.Val1808Met) c.5419G>A (p.Val1807Met) c.5311G>A (p.Val1771Met) c.5290G>A (p.Val1764Met) c.4636G>A (p.Val1546Met) c.5584G>A (p.Val1862Met) c.5332G>A (p.Val1778Met) c.4078G>A (p.Val1360Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
16 | g.2088554G>C | CA394315911 | TSC2 | c.*3717G>C (n.*3717G>C) c.5215G>C (p.Val1739Leu) c.5365G>C (p.Val1789Leu) c.*5881G>C (n.*5881G>C) c.*8117G>C (n.*8117G>C) c.5368G>C (p.Val1790Leu) c.5299G>C (p.Val1767Leu) c.5167G>C (p.Val1723Leu) c.5200G>C (p.Val1734Leu) c.1591G>C n.3250G>C c.4022G>C c.5227G>C (p.Val1743Leu) n.965G>C c.5170G>C (p.Val1724Leu) c.5236G>C (p.Val1746Leu) c.5161G>C (p.Val1721Leu) n.3016G>C c.5293G>C (p.Val1765Leu) c.5239G>C (p.Val1747Leu) c.5254G>C (p.Val1752Leu) c.5164G>C (p.Val1722Leu) c.5289G>C n.3452G>C c.5362G>C (p.Val1788Leu) n.4183G>C n.2620G>C n.2591G>C n.2481G>C c.5023G>C (p.Val1675Leu) c.*4535G>C (n.*4535G>C) c.5059G>C (p.Val1687Leu) n.3091G>C c.1550G>C n.2483G>C c.5422G>C (p.Val1808Leu) c.5419G>C (p.Val1807Leu) c.5311G>C (p.Val1771Leu) c.5290G>C (p.Val1764Leu) c.4636G>C (p.Val1546Leu) c.5584G>C (p.Val1862Leu) c.5332G>C (p.Val1778Leu) c.4078G>C (p.Val1360Leu) | ClinVar |
16 | g.2088554G= | CA2202034228 | TSC2 | c.*3717G= (n.*3717G=) c.5215G= (p.Val1739=) c.5365G= (p.Val1789=) c.*5881G= (n.*5881G=) c.*8117G= (n.*8117G=) c.5368G= (p.Val1790=) c.5299G= (p.Val1767=) c.5167G= (p.Val1723=) c.5200G= (p.Val1734=) c.1591G= n.3250G= c.4022G= c.5227G= (p.Val1743=) n.965G= c.5170G= (p.Val1724=) c.5236G= (p.Val1746=) c.5161G= (p.Val1721=) n.3016G= c.5293G= (p.Val1765=) c.5239G= (p.Val1747=) c.5254G= (p.Val1752=) c.5164G= (p.Val1722=) c.5289G= n.3452G= c.5362G= (p.Val1788=) n.4183G= n.2620G= n.2591G= n.2481G= c.5023G= (p.Val1675=) c.*4535G= (n.*4535G=) c.5059G= (p.Val1687=) n.3091G= c.1550G= n.2483G= c.5422G= (p.Val1808=) c.5419G= (p.Val1807=) c.5311G= (p.Val1771=) c.5290G= (p.Val1764=) c.4636G= (p.Val1546=) c.5584G= (p.Val1862=) c.5332G= (p.Val1778=) c.4078G= (p.Val1360=) | |
16 | g.2088554G>T | CA394315912 | TSC2 | c.*3717G>T (n.*3717G>T) c.5215G>T (p.Val1739Leu) c.5365G>T (p.Val1789Leu) c.*5881G>T (n.*5881G>T) c.*8117G>T (n.*8117G>T) c.5368G>T (p.Val1790Leu) c.5299G>T (p.Val1767Leu) c.5167G>T (p.Val1723Leu) c.5200G>T (p.Val1734Leu) c.1591G>T n.3250G>T c.4022G>T c.5227G>T (p.Val1743Leu) n.965G>T c.5170G>T (p.Val1724Leu) c.5236G>T (p.Val1746Leu) c.5161G>T (p.Val1721Leu) n.3016G>T c.5293G>T (p.Val1765Leu) c.5239G>T (p.Val1747Leu) c.5254G>T (p.Val1752Leu) c.5164G>T (p.Val1722Leu) c.5289G>T n.3452G>T c.5362G>T (p.Val1788Leu) n.4183G>T n.2620G>T n.2591G>T n.2481G>T c.5023G>T (p.Val1675Leu) c.*4535G>T (n.*4535G>T) c.5059G>T (p.Val1687Leu) n.3091G>T c.1550G>T n.2483G>T c.5422G>T (p.Val1808Leu) c.5419G>T (p.Val1807Leu) c.5311G>T (p.Val1771Leu) c.5290G>T (p.Val1764Leu) c.4636G>T (p.Val1546Leu) c.5584G>T (p.Val1862Leu) c.5332G>T (p.Val1778Leu) c.4078G>T (p.Val1360Leu) | |
16 | g.2088555T>A | CA394315914 | TSC2 | c.*3718T>A (n.*3718T>A) c.5216T>A (p.Val1739Glu) c.5366T>A (p.Val1789Glu) c.*5882T>A (n.*5882T>A) c.*8118T>A (n.*8118T>A) c.5369T>A (p.Val1790Glu) c.5300T>A (p.Val1767Glu) c.5168T>A (p.Val1723Glu) c.5201T>A (p.Val1734Glu) c.1592T>A n.3251T>A c.4023T>A c.5228T>A (p.Val1743Glu) n.966T>A c.5171T>A (p.Val1724Glu) c.5237T>A (p.Val1746Glu) c.5162T>A (p.Val1721Glu) n.3017T>A c.5294T>A (p.Val1765Glu) c.5240T>A (p.Val1747Glu) c.5255T>A (p.Val1752Glu) c.5165T>A (p.Val1722Glu) c.5290T>A n.3453T>A c.5363T>A (p.Val1788Glu) n.4184T>A n.2621T>A n.2592T>A n.2482T>A c.5024T>A (p.Val1675Glu) c.*4536T>A (n.*4536T>A) c.5060T>A (p.Val1687Glu) n.3092T>A c.1551T>A n.2484T>A c.5423T>A (p.Val1808Glu) c.5420T>A (p.Val1807Glu) c.5312T>A (p.Val1771Glu) c.5291T>A (p.Val1764Glu) c.4637T>A (p.Val1546Glu) c.5585T>A (p.Val1862Glu) c.5333T>A (p.Val1778Glu) c.4079T>A (p.Val1360Glu) | ClinVar dbSNP |
16 | g.2088555T>C | CA394315915 | TSC2 | c.*3718T>C (n.*3718T>C) c.5216T>C (p.Val1739Ala) c.5366T>C (p.Val1789Ala) c.*5882T>C (n.*5882T>C) c.*8118T>C (n.*8118T>C) c.5369T>C (p.Val1790Ala) c.5300T>C (p.Val1767Ala) c.5168T>C (p.Val1723Ala) c.5201T>C (p.Val1734Ala) c.1592T>C n.3251T>C c.4023T>C c.5228T>C (p.Val1743Ala) n.966T>C c.5171T>C (p.Val1724Ala) c.5237T>C (p.Val1746Ala) c.5162T>C (p.Val1721Ala) n.3017T>C c.5294T>C (p.Val1765Ala) c.5240T>C (p.Val1747Ala) c.5255T>C (p.Val1752Ala) c.5165T>C (p.Val1722Ala) c.5290T>C n.3453T>C c.5363T>C (p.Val1788Ala) n.4184T>C n.2621T>C n.2592T>C n.2482T>C c.5024T>C (p.Val1675Ala) c.*4536T>C (n.*4536T>C) c.5060T>C (p.Val1687Ala) n.3092T>C c.1551T>C n.2484T>C c.5423T>C (p.Val1808Ala) c.5420T>C (p.Val1807Ala) c.5312T>C (p.Val1771Ala) c.5291T>C (p.Val1764Ala) c.4637T>C (p.Val1546Ala) c.5585T>C (p.Val1862Ala) c.5333T>C (p.Val1778Ala) c.4079T>C (p.Val1360Ala) | |
16 | g.2088555T>G | CA394315923 | TSC2 | c.*3718T>G (n.*3718T>G) c.5216T>G (p.Val1739Gly) c.5366T>G (p.Val1789Gly) c.*5882T>G (n.*5882T>G) c.*8118T>G (n.*8118T>G) c.5369T>G (p.Val1790Gly) c.5300T>G (p.Val1767Gly) c.5168T>G (p.Val1723Gly) c.5201T>G (p.Val1734Gly) c.1592T>G n.3251T>G c.4023T>G c.5228T>G (p.Val1743Gly) n.966T>G c.5171T>G (p.Val1724Gly) c.5237T>G (p.Val1746Gly) c.5162T>G (p.Val1721Gly) n.3017T>G c.5294T>G (p.Val1765Gly) c.5240T>G (p.Val1747Gly) c.5255T>G (p.Val1752Gly) c.5165T>G (p.Val1722Gly) c.5290T>G n.3453T>G c.5363T>G (p.Val1788Gly) n.4184T>G n.2621T>G n.2592T>G n.2482T>G c.5024T>G (p.Val1675Gly) c.*4536T>G (n.*4536T>G) c.5060T>G (p.Val1687Gly) n.3092T>G c.1551T>G n.2484T>G c.5423T>G (p.Val1808Gly) c.5420T>G (p.Val1807Gly) c.5312T>G (p.Val1771Gly) c.5291T>G (p.Val1764Gly) c.4637T>G (p.Val1546Gly) c.5585T>G (p.Val1862Gly) c.5333T>G (p.Val1778Gly) c.4079T>G (p.Val1360Gly) | ClinVar dbSNP gnomAD v4 |
16 | g.2088555T= | CA2202034243 | TSC2 | c.*3718T= (n.*3718T=) c.5216T= (p.Val1739=) c.5366T= (p.Val1789=) c.*5882T= (n.*5882T=) c.*8118T= (n.*8118T=) c.5369T= (p.Val1790=) c.5300T= (p.Val1767=) c.5168T= (p.Val1723=) c.5201T= (p.Val1734=) c.1592T= n.3251T= c.4023T= c.5228T= (p.Val1743=) n.966T= c.5171T= (p.Val1724=) c.5237T= (p.Val1746=) c.5162T= (p.Val1721=) n.3017T= c.5294T= (p.Val1765=) c.5240T= (p.Val1747=) c.5255T= (p.Val1752=) c.5165T= (p.Val1722=) c.5290T= n.3453T= c.5363T= (p.Val1788=) n.4184T= n.2621T= n.2592T= n.2482T= c.5024T= (p.Val1675=) c.*4536T= (n.*4536T=) c.5060T= (p.Val1687=) n.3092T= c.1551T= n.2484T= c.5423T= (p.Val1808=) c.5420T= (p.Val1807=) c.5312T= (p.Val1771=) c.5291T= (p.Val1764=) c.4637T= (p.Val1546=) c.5585T= (p.Val1862=) c.5333T= (p.Val1778=) c.4079T= (p.Val1360=) | |
16 | g.2088556G>A | CA493043750 | TSC2 | c.*3719G>A (n.*3719G>A) c.5217G>A (p.Val1739=) c.5367G>A (p.Val1789=) c.*5883G>A (n.*5883G>A) c.*8119G>A (n.*8119G>A) c.5370G>A (p.Val1790=) c.5301G>A (p.Val1767=) c.5169G>A (p.Val1723=) c.5202G>A (p.Val1734=) c.1593G>A n.3252G>A c.4024G>A c.5229G>A (p.Val1743=) n.967G>A c.5172G>A (p.Val1724=) c.5238G>A (p.Val1746=) c.5163G>A (p.Val1721=) n.3018G>A c.5295G>A (p.Val1765=) c.5241G>A (p.Val1747=) c.5256G>A (p.Val1752=) c.5166G>A (p.Val1722=) c.5291G>A n.3454G>A c.5364G>A (p.Val1788=) n.4185G>A n.2622G>A n.2593G>A n.2483G>A c.5025G>A (p.Val1675=) c.*4537G>A (n.*4537G>A) c.5061G>A (p.Val1687=) n.3093G>A c.1552G>A n.2485G>A c.5424G>A (p.Val1808=) c.5421G>A (p.Val1807=) c.5313G>A (p.Val1771=) c.5292G>A (p.Val1764=) c.4638G>A (p.Val1546=) c.5586G>A (p.Val1862=) c.5334G>A (p.Val1778=) c.4080G>A (p.Val1360=) | ClinVar dbSNP gnomAD v4 |
16 | g.2088556G>C | CA055250 | TSC2 | c.*3719G>C (n.*3719G>C) c.5217G>C (p.Val1739=) c.5367G>C (p.Val1789=) c.*5883G>C (n.*5883G>C) c.*8119G>C (n.*8119G>C) c.5370G>C (p.Val1790=) c.5301G>C (p.Val1767=) c.5169G>C (p.Val1723=) c.5202G>C (p.Val1734=) c.1593G>C n.3252G>C c.4024G>C c.5229G>C (p.Val1743=) n.967G>C c.5172G>C (p.Val1724=) c.5238G>C (p.Val1746=) c.5163G>C (p.Val1721=) n.3018G>C c.5295G>C (p.Val1765=) c.5241G>C (p.Val1747=) c.5256G>C (p.Val1752=) c.5166G>C (p.Val1722=) c.5291G>C n.3454G>C c.5364G>C (p.Val1788=) n.4185G>C n.2622G>C n.2593G>C n.2483G>C c.5025G>C (p.Val1675=) c.*4537G>C (n.*4537G>C) c.5061G>C (p.Val1687=) n.3093G>C c.1552G>C n.2485G>C c.5424G>C (p.Val1808=) c.5421G>C (p.Val1807=) c.5313G>C (p.Val1771=) c.5292G>C (p.Val1764=) c.4638G>C (p.Val1546=) c.5586G>C (p.Val1862=) c.5334G>C (p.Val1778=) c.4080G>C (p.Val1360=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2088556G= | CA2202034250 | TSC2 | c.*3719G= (n.*3719G=) c.5217G= (p.Val1739=) c.5367G= (p.Val1789=) c.*5883G= (n.*5883G=) c.*8119G= (n.*8119G=) c.5370G= (p.Val1790=) c.5301G= (p.Val1767=) c.5169G= (p.Val1723=) c.5202G= (p.Val1734=) c.1593G= n.3252G= c.4024G= c.5229G= (p.Val1743=) n.967G= c.5172G= (p.Val1724=) c.5238G= (p.Val1746=) c.5163G= (p.Val1721=) n.3018G= c.5295G= (p.Val1765=) c.5241G= (p.Val1747=) c.5256G= (p.Val1752=) c.5166G= (p.Val1722=) c.5291G= n.3454G= c.5364G= (p.Val1788=) n.4185G= n.2622G= n.2593G= n.2483G= c.5025G= (p.Val1675=) c.*4537G= (n.*4537G=) c.5061G= (p.Val1687=) n.3093G= c.1552G= n.2485G= c.5424G= (p.Val1808=) c.5421G= (p.Val1807=) c.5313G= (p.Val1771=) c.5292G= (p.Val1764=) c.4638G= (p.Val1546=) c.5586G= (p.Val1862=) c.5334G= (p.Val1778=) c.4080G= (p.Val1360=) | |
16 | g.2088556G>T | CA493043751 | TSC2 | c.*3719G>T (n.*3719G>T) c.5217G>T (p.Val1739=) c.5367G>T (p.Val1789=) c.*5883G>T (n.*5883G>T) c.*8119G>T (n.*8119G>T) c.5370G>T (p.Val1790=) c.5301G>T (p.Val1767=) c.5169G>T (p.Val1723=) c.5202G>T (p.Val1734=) c.1593G>T n.3252G>T c.4024G>T c.5229G>T (p.Val1743=) n.967G>T c.5172G>T (p.Val1724=) c.5238G>T (p.Val1746=) c.5163G>T (p.Val1721=) n.3018G>T c.5295G>T (p.Val1765=) c.5241G>T (p.Val1747=) c.5256G>T (p.Val1752=) c.5166G>T (p.Val1722=) c.5291G>T n.3454G>T c.5364G>T (p.Val1788=) n.4185G>T n.2622G>T n.2593G>T n.2483G>T c.5025G>T (p.Val1675=) c.*4537G>T (n.*4537G>T) c.5061G>T (p.Val1687=) n.3093G>T c.1552G>T n.2485G>T c.5424G>T (p.Val1808=) c.5421G>T (p.Val1807=) c.5313G>T (p.Val1771=) c.5292G>T (p.Val1764=) c.4638G>T (p.Val1546=) c.5586G>T (p.Val1862=) c.5334G>T (p.Val1778=) c.4080G>T (p.Val1360=) | gnomAD v4 |
16 | g.2088557_2088568del | CA2825002356 | TSC2 | c.*3720_*3731del (n.*3720_*3731del) c.5218_5229del (p.Gly1740_Lys1743del) c.5368_5379del (p.Gly1790_Lys1793del) c.*5884_*5895del (n.*5884_*5895del) c.*8120_*8131del (n.*8120_*8131del) c.5371_5382del (p.Gly1791_Lys1794del) c.5302_5313del (p.Gly1768_Lys1771del) c.5170_5181del (p.Gly1724_Lys1727del) c.5203_5214del (p.Gly1735_Lys1738del) c.1594_1605del n.3253_3264del c.4025_4036del c.5230_5241del (p.Gly1744_Lys1747del) n.968_979del c.5173_5184del (p.Gly1725_Lys1728del) c.5239_5250del (p.Gly1747_Lys1750del) c.5164_5175del (p.Gly1722_Lys1725del) n.3019_3030del c.5296_5307del (p.Gly1766_Lys1769del) c.5242_5253del (p.Gly1748_Lys1751del) c.5257_5268del (p.Gly1753_Lys1756del) c.5167_5178del (p.Gly1723_Lys1726del) c.5292_5303del n.3455_3466del c.5365_5376del (p.Gly1789_Lys1792del) n.4186_4197del n.2623_2634del n.2594_2605del n.2484_2495del c.5026_5037del (p.Gly1676_Lys1679del) c.*4538_*4549del (n.*4538_*4549del) c.5062_5073del (p.Gly1688_Lys1691del) n.3094_3105del c.1553_1564del n.2486_2497del c.5425_5436del (p.Gly1809_Lys1812del) c.5422_5433del (p.Gly1808_Lys1811del) c.5314_5325del (p.Gly1772_Lys1775del) c.5293_5304del (p.Gly1765_Lys1768del) c.4639_4650del (p.Gly1547_Lys1550del) c.5587_5598del (p.Gly1863_Lys1866del) c.5335_5346del (p.Gly1779_Lys1782del) c.4081_4092del (p.Gly1361_Lys1364del) | ClinVar |
16 | g.2088557G>A | CA022427 | TSC2 | c.*3720G>A (n.*3720G>A) c.5218G>A (p.Gly1740Ser) c.5368G>A (p.Gly1790Ser) c.*5884G>A (n.*5884G>A) c.*8120G>A (n.*8120G>A) c.5371G>A (p.Gly1791Ser) c.5302G>A (p.Gly1768Ser) c.5170G>A (p.Gly1724Ser) c.5203G>A (p.Gly1735Ser) c.1594G>A n.3253G>A c.4025G>A c.5230G>A (p.Gly1744Ser) n.968G>A c.5173G>A (p.Gly1725Ser) c.5239G>A (p.Gly1747Ser) c.5164G>A (p.Gly1722Ser) n.3019G>A c.5296G>A (p.Gly1766Ser) c.5242G>A (p.Gly1748Ser) c.5257G>A (p.Gly1753Ser) c.5167G>A (p.Gly1723Ser) c.5292G>A n.3455G>A c.5365G>A (p.Gly1789Ser) n.4186G>A n.2623G>A n.2594G>A n.2484G>A c.5026G>A (p.Gly1676Ser) c.*4538G>A (n.*4538G>A) c.5062G>A (p.Gly1688Ser) n.3094G>A c.1553G>A n.2486G>A c.5425G>A (p.Gly1809Ser) c.5422G>A (p.Gly1808Ser) c.5314G>A (p.Gly1772Ser) c.5293G>A (p.Gly1765Ser) c.4639G>A (p.Gly1547Ser) c.5587G>A (p.Gly1863Ser) c.5335G>A (p.Gly1779Ser) c.4081G>A (p.Gly1361Ser) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
16 | g.2088557G>C | CA394315941 | TSC2 | c.*3720G>C (n.*3720G>C) c.5218G>C (p.Gly1740Arg) c.5368G>C (p.Gly1790Arg) c.*5884G>C (n.*5884G>C) c.*8120G>C (n.*8120G>C) c.5371G>C (p.Gly1791Arg) c.5302G>C (p.Gly1768Arg) c.5170G>C (p.Gly1724Arg) c.5203G>C (p.Gly1735Arg) c.1594G>C n.3253G>C c.4025G>C c.5230G>C (p.Gly1744Arg) n.968G>C c.5173G>C (p.Gly1725Arg) c.5239G>C (p.Gly1747Arg) c.5164G>C (p.Gly1722Arg) n.3019G>C c.5296G>C (p.Gly1766Arg) c.5242G>C (p.Gly1748Arg) c.5257G>C (p.Gly1753Arg) c.5167G>C (p.Gly1723Arg) c.5292G>C n.3455G>C c.5365G>C (p.Gly1789Arg) n.4186G>C n.2623G>C n.2594G>C n.2484G>C c.5026G>C (p.Gly1676Arg) c.*4538G>C (n.*4538G>C) c.5062G>C (p.Gly1688Arg) n.3094G>C c.1553G>C n.2486G>C c.5425G>C (p.Gly1809Arg) c.5422G>C (p.Gly1808Arg) c.5314G>C (p.Gly1772Arg) c.5293G>C (p.Gly1765Arg) c.4639G>C (p.Gly1547Arg) c.5587G>C (p.Gly1863Arg) c.5335G>C (p.Gly1779Arg) c.4081G>C (p.Gly1361Arg) | |
16 | g.2088557G= | CA2202034254 | TSC2 | c.*3720G= (n.*3720G=) c.5218G= (p.Gly1740=) c.5368G= (p.Gly1790=) c.*5884G= (n.*5884G=) c.*8120G= (n.*8120G=) c.5371G= (p.Gly1791=) c.5302G= (p.Gly1768=) c.5170G= (p.Gly1724=) c.5203G= (p.Gly1735=) c.1594G= n.3253G= c.4025G= c.5230G= (p.Gly1744=) n.968G= c.5173G= (p.Gly1725=) c.5239G= (p.Gly1747=) c.5164G= (p.Gly1722=) n.3019G= c.5296G= (p.Gly1766=) c.5242G= (p.Gly1748=) c.5257G= (p.Gly1753=) c.5167G= (p.Gly1723=) c.5292G= n.3455G= c.5365G= (p.Gly1789=) n.4186G= n.2623G= n.2594G= n.2484G= c.5026G= (p.Gly1676=) c.*4538G= (n.*4538G=) c.5062G= (p.Gly1688=) n.3094G= c.1553G= n.2486G= c.5425G= (p.Gly1809=) c.5422G= (p.Gly1808=) c.5314G= (p.Gly1772=) c.5293G= (p.Gly1765=) c.4639G= (p.Gly1547=) c.5587G= (p.Gly1863=) c.5335G= (p.Gly1779=) c.4081G= (p.Gly1361=) | |
16 | g.2088557G>T | CA394315942 | TSC2 | c.*3720G>T (n.*3720G>T) c.5218G>T (p.Gly1740Cys) c.5368G>T (p.Gly1790Cys) c.*5884G>T (n.*5884G>T) c.*8120G>T (n.*8120G>T) c.5371G>T (p.Gly1791Cys) c.5302G>T (p.Gly1768Cys) c.5170G>T (p.Gly1724Cys) c.5203G>T (p.Gly1735Cys) c.1594G>T n.3253G>T c.4025G>T c.5230G>T (p.Gly1744Cys) n.968G>T c.5173G>T (p.Gly1725Cys) c.5239G>T (p.Gly1747Cys) c.5164G>T (p.Gly1722Cys) n.3019G>T c.5296G>T (p.Gly1766Cys) c.5242G>T (p.Gly1748Cys) c.5257G>T (p.Gly1753Cys) c.5167G>T (p.Gly1723Cys) c.5292G>T n.3455G>T c.5365G>T (p.Gly1789Cys) n.4186G>T n.2623G>T n.2594G>T n.2484G>T c.5026G>T (p.Gly1676Cys) c.*4538G>T (n.*4538G>T) c.5062G>T (p.Gly1688Cys) n.3094G>T c.1553G>T n.2486G>T c.5425G>T (p.Gly1809Cys) c.5422G>T (p.Gly1808Cys) c.5314G>T (p.Gly1772Cys) c.5293G>T (p.Gly1765Cys) c.4639G>T (p.Gly1547Cys) c.5587G>T (p.Gly1863Cys) c.5335G>T (p.Gly1779Cys) c.4081G>T (p.Gly1361Cys) | |
16 | g.2088558G>A | CA394315944 | TSC2 | c.*3721G>A (n.*3721G>A) c.5219G>A (p.Gly1740Asp) c.5369G>A (p.Gly1790Asp) c.*5885G>A (n.*5885G>A) c.*8121G>A (n.*8121G>A) c.5372G>A (p.Gly1791Asp) c.5303G>A (p.Gly1768Asp) c.5171G>A (p.Gly1724Asp) c.5204G>A (p.Gly1735Asp) c.1595G>A n.3254G>A c.4026G>A c.5231G>A (p.Gly1744Asp) n.969G>A c.5174G>A (p.Gly1725Asp) c.5240G>A (p.Gly1747Asp) c.5165G>A (p.Gly1722Asp) n.3020G>A c.5297G>A (p.Gly1766Asp) c.5243G>A (p.Gly1748Asp) c.5258G>A (p.Gly1753Asp) c.5168G>A (p.Gly1723Asp) c.5293G>A n.3456G>A c.5366G>A (p.Gly1789Asp) n.4187G>A n.2624G>A n.2595G>A n.2485G>A c.5027G>A (p.Gly1676Asp) c.*4539G>A (n.*4539G>A) c.5063G>A (p.Gly1688Asp) n.3095G>A c.1554G>A n.2487G>A c.5426G>A (p.Gly1809Asp) c.5423G>A (p.Gly1808Asp) c.5315G>A (p.Gly1772Asp) c.5294G>A (p.Gly1765Asp) c.4640G>A (p.Gly1547Asp) c.5588G>A (p.Gly1863Asp) c.5336G>A (p.Gly1779Asp) c.4082G>A (p.Gly1361Asp) | ClinVar dbSNP |
16 | g.2088558G>C | CA394315946 | TSC2 | c.*3721G>C (n.*3721G>C) c.5219G>C (p.Gly1740Ala) c.5369G>C (p.Gly1790Ala) c.*5885G>C (n.*5885G>C) c.*8121G>C (n.*8121G>C) c.5372G>C (p.Gly1791Ala) c.5303G>C (p.Gly1768Ala) c.5171G>C (p.Gly1724Ala) c.5204G>C (p.Gly1735Ala) c.1595G>C n.3254G>C c.4026G>C c.5231G>C (p.Gly1744Ala) n.969G>C c.5174G>C (p.Gly1725Ala) c.5240G>C (p.Gly1747Ala) c.5165G>C (p.Gly1722Ala) n.3020G>C c.5297G>C (p.Gly1766Ala) c.5243G>C (p.Gly1748Ala) c.5258G>C (p.Gly1753Ala) c.5168G>C (p.Gly1723Ala) c.5293G>C n.3456G>C c.5366G>C (p.Gly1789Ala) n.4187G>C n.2624G>C n.2595G>C n.2485G>C c.5027G>C (p.Gly1676Ala) c.*4539G>C (n.*4539G>C) c.5063G>C (p.Gly1688Ala) n.3095G>C c.1554G>C n.2487G>C c.5426G>C (p.Gly1809Ala) c.5423G>C (p.Gly1808Ala) c.5315G>C (p.Gly1772Ala) c.5294G>C (p.Gly1765Ala) c.4640G>C (p.Gly1547Ala) c.5588G>C (p.Gly1863Ala) c.5336G>C (p.Gly1779Ala) c.4082G>C (p.Gly1361Ala) | ClinVar dbSNP |
16 | g.2088558G= | CA2202034263 | TSC2 | c.*3721G= (n.*3721G=) c.5219G= (p.Gly1740=) c.5369G= (p.Gly1790=) c.*5885G= (n.*5885G=) c.*8121G= (n.*8121G=) c.5372G= (p.Gly1791=) c.5303G= (p.Gly1768=) c.5171G= (p.Gly1724=) c.5204G= (p.Gly1735=) c.1595G= n.3254G= c.4026G= c.5231G= (p.Gly1744=) n.969G= c.5174G= (p.Gly1725=) c.5240G= (p.Gly1747=) c.5165G= (p.Gly1722=) n.3020G= c.5297G= (p.Gly1766=) c.5243G= (p.Gly1748=) c.5258G= (p.Gly1753=) c.5168G= (p.Gly1723=) c.5293G= n.3456G= c.5366G= (p.Gly1789=) n.4187G= n.2624G= n.2595G= n.2485G= c.5027G= (p.Gly1676=) c.*4539G= (n.*4539G=) c.5063G= (p.Gly1688=) n.3095G= c.1554G= n.2487G= c.5426G= (p.Gly1809=) c.5423G= (p.Gly1808=) c.5315G= (p.Gly1772=) c.5294G= (p.Gly1765=) c.4640G= (p.Gly1547=) c.5588G= (p.Gly1863=) c.5336G= (p.Gly1779=) c.4082G= (p.Gly1361=) | |
16 | g.2088558G>T | CA394315943 | TSC2 | c.*3721G>T (n.*3721G>T) c.5219G>T (p.Gly1740Val) c.5369G>T (p.Gly1790Val) c.*5885G>T (n.*5885G>T) c.*8121G>T (n.*8121G>T) c.5372G>T (p.Gly1791Val) c.5303G>T (p.Gly1768Val) c.5171G>T (p.Gly1724Val) c.5204G>T (p.Gly1735Val) c.1595G>T n.3254G>T c.4026G>T c.5231G>T (p.Gly1744Val) n.969G>T c.5174G>T (p.Gly1725Val) c.5240G>T (p.Gly1747Val) c.5165G>T (p.Gly1722Val) n.3020G>T c.5297G>T (p.Gly1766Val) c.5243G>T (p.Gly1748Val) c.5258G>T (p.Gly1753Val) c.5168G>T (p.Gly1723Val) c.5293G>T n.3456G>T c.5366G>T (p.Gly1789Val) n.4187G>T n.2624G>T n.2595G>T n.2485G>T c.5027G>T (p.Gly1676Val) c.*4539G>T (n.*4539G>T) c.5063G>T (p.Gly1688Val) n.3095G>T c.1554G>T n.2487G>T c.5426G>T (p.Gly1809Val) c.5423G>T (p.Gly1808Val) c.5315G>T (p.Gly1772Val) c.5294G>T (p.Gly1765Val) c.4640G>T (p.Gly1547Val) c.5588G>T (p.Gly1863Val) c.5336G>T (p.Gly1779Val) c.4082G>T (p.Gly1361Val) | |
16 | g.2088559C>A | CA493043760 | TSC2 | c.*3722C>A (n.*3722C>A) c.5220C>A (p.Gly1740=) c.5370C>A (p.Gly1790=) c.*5886C>A (n.*5886C>A) c.*8122C>A (n.*8122C>A) c.5373C>A (p.Gly1791=) c.5304C>A (p.Gly1768=) c.5172C>A (p.Gly1724=) c.5205C>A (p.Gly1735=) c.1596C>A n.3255C>A c.4027C>A c.5232C>A (p.Gly1744=) n.970C>A c.5175C>A (p.Gly1725=) c.5241C>A (p.Gly1747=) c.5166C>A (p.Gly1722=) n.3021C>A c.5298C>A (p.Gly1766=) c.5244C>A (p.Gly1748=) c.5259C>A (p.Gly1753=) c.5169C>A (p.Gly1723=) c.5294C>A n.3457C>A c.5367C>A (p.Gly1789=) n.4188C>A n.2625C>A n.2596C>A n.2486C>A c.5028C>A (p.Gly1676=) c.*4540C>A (n.*4540C>A) c.5064C>A (p.Gly1688=) n.3096C>A c.1555C>A n.2488C>A c.5427C>A (p.Gly1809=) c.5424C>A (p.Gly1808=) c.5316C>A (p.Gly1772=) c.5295C>A (p.Gly1765=) c.4641C>A (p.Gly1547=) c.5589C>A (p.Gly1863=) c.5337C>A (p.Gly1779=) c.4083C>A (p.Gly1361=) | dbSNP |
16 | g.2088559C= | CA2202034269 | TSC2 | c.*3722C= (n.*3722C=) c.5220C= (p.Gly1740=) c.5370C= (p.Gly1790=) c.*5886C= (n.*5886C=) c.*8122C= (n.*8122C=) c.5373C= (p.Gly1791=) c.5304C= (p.Gly1768=) c.5172C= (p.Gly1724=) c.5205C= (p.Gly1735=) c.1596C= n.3255C= c.4027C= c.5232C= (p.Gly1744=) n.970C= c.5175C= (p.Gly1725=) c.5241C= (p.Gly1747=) c.5166C= (p.Gly1722=) n.3021C= c.5298C= (p.Gly1766=) c.5244C= (p.Gly1748=) c.5259C= (p.Gly1753=) c.5169C= (p.Gly1723=) c.5294C= n.3457C= c.5367C= (p.Gly1789=) n.4188C= n.2625C= n.2596C= n.2486C= c.5028C= (p.Gly1676=) c.*4540C= (n.*4540C=) c.5064C= (p.Gly1688=) n.3096C= c.1555C= n.2488C= c.5427C= (p.Gly1809=) c.5424C= (p.Gly1808=) c.5316C= (p.Gly1772=) c.5295C= (p.Gly1765=) c.4641C= (p.Gly1547=) c.5589C= (p.Gly1863=) c.5337C= (p.Gly1779=) c.4083C= (p.Gly1361=) | |
16 | g.2088559C>G | CA493043762 | TSC2 | c.*3722C>G (n.*3722C>G) c.5220C>G (p.Gly1740=) c.5370C>G (p.Gly1790=) c.*5886C>G (n.*5886C>G) c.*8122C>G (n.*8122C>G) c.5373C>G (p.Gly1791=) c.5304C>G (p.Gly1768=) c.5172C>G (p.Gly1724=) c.5205C>G (p.Gly1735=) c.1596C>G n.3255C>G c.4027C>G c.5232C>G (p.Gly1744=) n.970C>G c.5175C>G (p.Gly1725=) c.5241C>G (p.Gly1747=) c.5166C>G (p.Gly1722=) n.3021C>G c.5298C>G (p.Gly1766=) c.5244C>G (p.Gly1748=) c.5259C>G (p.Gly1753=) c.5169C>G (p.Gly1723=) c.5294C>G n.3457C>G c.5367C>G (p.Gly1789=) n.4188C>G n.2625C>G n.2596C>G n.2486C>G c.5028C>G (p.Gly1676=) c.*4540C>G (n.*4540C>G) c.5064C>G (p.Gly1688=) n.3096C>G c.1555C>G n.2488C>G c.5427C>G (p.Gly1809=) c.5424C>G (p.Gly1808=) c.5316C>G (p.Gly1772=) c.5295C>G (p.Gly1765=) c.4641C>G (p.Gly1547=) c.5589C>G (p.Gly1863=) c.5337C>G (p.Gly1779=) c.4083C>G (p.Gly1361=) | ClinVar dbSNP |
16 | g.2088559C>T | CA493043763 | TSC2 | c.*3722C>T (n.*3722C>T) c.5220C>T (p.Gly1740=) c.5370C>T (p.Gly1790=) c.*5886C>T (n.*5886C>T) c.*8122C>T (n.*8122C>T) c.5373C>T (p.Gly1791=) c.5304C>T (p.Gly1768=) c.5172C>T (p.Gly1724=) c.5205C>T (p.Gly1735=) c.1596C>T n.3255C>T c.4027C>T c.5232C>T (p.Gly1744=) n.970C>T c.5175C>T (p.Gly1725=) c.5241C>T (p.Gly1747=) c.5166C>T (p.Gly1722=) n.3021C>T c.5298C>T (p.Gly1766=) c.5244C>T (p.Gly1748=) c.5259C>T (p.Gly1753=) c.5169C>T (p.Gly1723=) c.5294C>T n.3457C>T c.5367C>T (p.Gly1789=) n.4188C>T n.2625C>T n.2596C>T n.2486C>T c.5028C>T (p.Gly1676=) c.*4540C>T (n.*4540C>T) c.5064C>T (p.Gly1688=) n.3096C>T c.1555C>T n.2488C>T c.5427C>T (p.Gly1809=) c.5424C>T (p.Gly1808=) c.5316C>T (p.Gly1772=) c.5295C>T (p.Gly1765=) c.4641C>T (p.Gly1547=) c.5589C>T (p.Gly1863=) c.5337C>T (p.Gly1779=) c.4083C>T (p.Gly1361=) | ClinVar dbSNP gnomAD v4 |
16 | g.2088560C>A | CA16615208 | TSC2 | c.*3723C>A (n.*3723C>A) c.5221C>A (p.Gln1741Lys) c.5371C>A (p.Gln1791Lys) c.*5887C>A (n.*5887C>A) c.*8123C>A (n.*8123C>A) c.5374C>A (p.Gln1792Lys) c.5305C>A (p.Gln1769Lys) c.5173C>A (p.Gln1725Lys) c.5206C>A (p.Gln1736Lys) c.1597C>A n.3256C>A c.4028C>A c.5233C>A (p.Gln1745Lys) n.971C>A c.5176C>A (p.Gln1726Lys) c.5242C>A (p.Gln1748Lys) c.5167C>A (p.Gln1723Lys) n.3022C>A c.5299C>A (p.Gln1767Lys) c.5245C>A (p.Gln1749Lys) c.5260C>A (p.Gln1754Lys) c.5170C>A (p.Gln1724Lys) c.5295C>A n.3458C>A c.5368C>A (p.Gln1790Lys) n.4189C>A n.2626C>A n.2597C>A n.2487C>A c.5029C>A (p.Gln1677Lys) c.*4541C>A (n.*4541C>A) c.5065C>A (p.Gln1689Lys) n.3097C>A c.1556C>A n.2489C>A c.5428C>A (p.Gln1810Lys) c.5425C>A (p.Gln1809Lys) c.5317C>A (p.Gln1773Lys) c.5296C>A (p.Gln1766Lys) c.4642C>A (p.Gln1548Lys) c.5590C>A (p.Gln1864Lys) c.5338C>A (p.Gln1780Lys) c.4084C>A (p.Gln1362Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.2088560C= | CA2202034274 | TSC2 | c.*3723C= (n.*3723C=) c.5221C= (p.Gln1741=) c.5371C= (p.Gln1791=) c.*5887C= (n.*5887C=) c.*8123C= (n.*8123C=) c.5374C= (p.Gln1792=) c.5305C= (p.Gln1769=) c.5173C= (p.Gln1725=) c.5206C= (p.Gln1736=) c.1597C= n.3256C= c.4028C= c.5233C= (p.Gln1745=) n.971C= c.5176C= (p.Gln1726=) c.5242C= (p.Gln1748=) c.5167C= (p.Gln1723=) n.3022C= c.5299C= (p.Gln1767=) c.5245C= (p.Gln1749=) c.5260C= (p.Gln1754=) c.5170C= (p.Gln1724=) c.5295C= n.3458C= c.5368C= (p.Gln1790=) n.4189C= n.2626C= n.2597C= n.2487C= c.5029C= (p.Gln1677=) c.*4541C= (n.*4541C=) c.5065C= (p.Gln1689=) n.3097C= c.1556C= n.2489C= c.5428C= (p.Gln1810=) c.5425C= (p.Gln1809=) c.5317C= (p.Gln1773=) c.5296C= (p.Gln1766=) c.4642C= (p.Gln1548=) c.5590C= (p.Gln1864=) c.5338C= (p.Gln1780=) c.4084C= (p.Gln1362=) | |
16 | g.2088560C>G | CA394315950 | TSC2 | c.*3723C>G (n.*3723C>G) c.5221C>G (p.Gln1741Glu) c.5371C>G (p.Gln1791Glu) c.*5887C>G (n.*5887C>G) c.*8123C>G (n.*8123C>G) c.5374C>G (p.Gln1792Glu) c.5305C>G (p.Gln1769Glu) c.5173C>G (p.Gln1725Glu) c.5206C>G (p.Gln1736Glu) c.1597C>G n.3256C>G c.4028C>G c.5233C>G (p.Gln1745Glu) n.971C>G c.5176C>G (p.Gln1726Glu) c.5242C>G (p.Gln1748Glu) c.5167C>G (p.Gln1723Glu) n.3022C>G c.5299C>G (p.Gln1767Glu) c.5245C>G (p.Gln1749Glu) c.5260C>G (p.Gln1754Glu) c.5170C>G (p.Gln1724Glu) c.5295C>G n.3458C>G c.5368C>G (p.Gln1790Glu) n.4189C>G n.2626C>G n.2597C>G n.2487C>G c.5029C>G (p.Gln1677Glu) c.*4541C>G (n.*4541C>G) c.5065C>G (p.Gln1689Glu) n.3097C>G c.1556C>G n.2489C>G c.5428C>G (p.Gln1810Glu) c.5425C>G (p.Gln1809Glu) c.5317C>G (p.Gln1773Glu) c.5296C>G (p.Gln1766Glu) c.4642C>G (p.Gln1548Glu) c.5590C>G (p.Gln1864Glu) c.5338C>G (p.Gln1780Glu) c.4084C>G (p.Gln1362Glu) | |
16 | g.2088560C>T | CA394315949 | TSC2 | c.*3723C>T (n.*3723C>T) c.5221C>T (p.Gln1741Ter) c.5371C>T (p.Gln1791Ter) c.*5887C>T (n.*5887C>T) c.*8123C>T (n.*8123C>T) c.5374C>T (p.Gln1792Ter) c.5305C>T (p.Gln1769Ter) c.5173C>T (p.Gln1725Ter) c.5206C>T (p.Gln1736Ter) c.1597C>T n.3256C>T c.4028C>T c.5233C>T (p.Gln1745Ter) n.971C>T c.5176C>T (p.Gln1726Ter) c.5242C>T (p.Gln1748Ter) c.5167C>T (p.Gln1723Ter) n.3022C>T c.5299C>T (p.Gln1767Ter) c.5245C>T (p.Gln1749Ter) c.5260C>T (p.Gln1754Ter) c.5170C>T (p.Gln1724Ter) c.5295C>T n.3458C>T c.5368C>T (p.Gln1790Ter) n.4189C>T n.2626C>T n.2597C>T n.2487C>T c.5029C>T (p.Gln1677Ter) c.*4541C>T (n.*4541C>T) c.5065C>T (p.Gln1689Ter) n.3097C>T c.1556C>T n.2489C>T c.5428C>T (p.Gln1810Ter) c.5425C>T (p.Gln1809Ter) c.5317C>T (p.Gln1773Ter) c.5296C>T (p.Gln1766Ter) c.4642C>T (p.Gln1548Ter) c.5590C>T (p.Gln1864Ter) c.5338C>T (p.Gln1780Ter) c.4084C>T (p.Gln1362Ter) | ClinVar gnomAD v4 |
16 | g.2088561A>C | CA394315951 | TSC2 | c.*3724A>C (n.*3724A>C) c.5222A>C (p.Gln1741Pro) c.5372A>C (p.Gln1791Pro) c.*5888A>C (n.*5888A>C) c.*8124A>C (n.*8124A>C) c.5375A>C (p.Gln1792Pro) c.5306A>C (p.Gln1769Pro) c.5174A>C (p.Gln1725Pro) c.5207A>C (p.Gln1736Pro) c.1598A>C n.3257A>C c.4029A>C c.5234A>C (p.Gln1745Pro) n.972A>C c.5177A>C (p.Gln1726Pro) c.5243A>C (p.Gln1748Pro) c.5168A>C (p.Gln1723Pro) n.3023A>C c.5300A>C (p.Gln1767Pro) c.5246A>C (p.Gln1749Pro) c.5261A>C (p.Gln1754Pro) c.5171A>C (p.Gln1724Pro) c.5296A>C n.3459A>C c.5369A>C (p.Gln1790Pro) n.4190A>C n.2627A>C n.2598A>C n.2488A>C c.5030A>C (p.Gln1677Pro) c.*4542A>C (n.*4542A>C) c.5066A>C (p.Gln1689Pro) n.3098A>C c.1557A>C n.2490A>C c.5429A>C (p.Gln1810Pro) c.5426A>C (p.Gln1809Pro) c.5318A>C (p.Gln1773Pro) c.5297A>C (p.Gln1766Pro) c.4643A>C (p.Gln1548Pro) c.5591A>C (p.Gln1864Pro) c.5339A>C (p.Gln1780Pro) c.4085A>C (p.Gln1362Pro) | gnomAD v4 |
16 | g.2088561A>G | CA394315953 | TSC2 | c.*3724A>G (n.*3724A>G) c.5222A>G (p.Gln1741Arg) c.5372A>G (p.Gln1791Arg) c.*5888A>G (n.*5888A>G) c.*8124A>G (n.*8124A>G) c.5375A>G (p.Gln1792Arg) c.5306A>G (p.Gln1769Arg) c.5174A>G (p.Gln1725Arg) c.5207A>G (p.Gln1736Arg) c.1598A>G n.3257A>G c.4029A>G c.5234A>G (p.Gln1745Arg) n.972A>G c.5177A>G (p.Gln1726Arg) c.5243A>G (p.Gln1748Arg) c.5168A>G (p.Gln1723Arg) n.3023A>G c.5300A>G (p.Gln1767Arg) c.5246A>G (p.Gln1749Arg) c.5261A>G (p.Gln1754Arg) c.5171A>G (p.Gln1724Arg) c.5296A>G n.3459A>G c.5369A>G (p.Gln1790Arg) n.4190A>G n.2627A>G n.2598A>G n.2488A>G c.5030A>G (p.Gln1677Arg) c.*4542A>G (n.*4542A>G) c.5066A>G (p.Gln1689Arg) n.3098A>G c.1557A>G n.2490A>G c.5429A>G (p.Gln1810Arg) c.5426A>G (p.Gln1809Arg) c.5318A>G (p.Gln1773Arg) c.5297A>G (p.Gln1766Arg) c.4643A>G (p.Gln1548Arg) c.5591A>G (p.Gln1864Arg) c.5339A>G (p.Gln1780Arg) c.4085A>G (p.Gln1362Arg) | ClinVar gnomAD v4 |
16 | g.2088561A>T | CA394315956 | TSC2 | c.*3724A>T (n.*3724A>T) c.5222A>T (p.Gln1741Leu) c.5372A>T (p.Gln1791Leu) c.*5888A>T (n.*5888A>T) c.*8124A>T (n.*8124A>T) c.5375A>T (p.Gln1792Leu) c.5306A>T (p.Gln1769Leu) c.5174A>T (p.Gln1725Leu) c.5207A>T (p.Gln1736Leu) c.1598A>T n.3257A>T c.4029A>T c.5234A>T (p.Gln1745Leu) n.972A>T c.5177A>T (p.Gln1726Leu) c.5243A>T (p.Gln1748Leu) c.5168A>T (p.Gln1723Leu) n.3023A>T c.5300A>T (p.Gln1767Leu) c.5246A>T (p.Gln1749Leu) c.5261A>T (p.Gln1754Leu) c.5171A>T (p.Gln1724Leu) c.5296A>T n.3459A>T c.5369A>T (p.Gln1790Leu) n.4190A>T n.2627A>T n.2598A>T n.2488A>T c.5030A>T (p.Gln1677Leu) c.*4542A>T (n.*4542A>T) c.5066A>T (p.Gln1689Leu) n.3098A>T c.1557A>T n.2490A>T c.5429A>T (p.Gln1810Leu) c.5426A>T (p.Gln1809Leu) c.5318A>T (p.Gln1773Leu) c.5297A>T (p.Gln1766Leu) c.4643A>T (p.Gln1548Leu) c.5591A>T (p.Gln1864Leu) c.5339A>T (p.Gln1780Leu) c.4085A>T (p.Gln1362Leu) | |
16 | g.2088562G>A | CA493043769 | TSC2 | c.*3725G>A (n.*3725G>A) c.5223G>A (p.Gln1741=) c.5373G>A (p.Gln1791=) c.*5889G>A (n.*5889G>A) c.*8125G>A (n.*8125G>A) c.5376G>A (p.Gln1792=) c.5307G>A (p.Gln1769=) c.5175G>A (p.Gln1725=) c.5208G>A (p.Gln1736=) c.1599G>A n.3258G>A c.4030G>A c.5235G>A (p.Gln1745=) n.973G>A c.5178G>A (p.Gln1726=) c.5244G>A (p.Gln1748=) c.5169G>A (p.Gln1723=) n.3024G>A c.5301G>A (p.Gln1767=) c.5247G>A (p.Gln1749=) c.5262G>A (p.Gln1754=) c.5172G>A (p.Gln1724=) c.5297G>A n.3460G>A c.5370G>A (p.Gln1790=) n.4191G>A n.2628G>A n.2599G>A n.2489G>A c.5031G>A (p.Gln1677=) c.*4543G>A (n.*4543G>A) c.5067G>A (p.Gln1689=) n.3099G>A c.1558G>A n.2491G>A c.5430G>A (p.Gln1810=) c.5427G>A (p.Gln1809=) c.5319G>A (p.Gln1773=) c.5298G>A (p.Gln1766=) c.4644G>A (p.Gln1548=) c.5592G>A (p.Gln1864=) c.5340G>A (p.Gln1780=) c.4086G>A (p.Gln1362=) | dbSNP gnomAD v4 |
16 | g.2088562G>C | CA022432 | TSC2 | c.*3725G>C (n.*3725G>C) c.5223G>C (p.Gln1741His) c.5373G>C (p.Gln1791His) c.*5889G>C (n.*5889G>C) c.*8125G>C (n.*8125G>C) c.5376G>C (p.Gln1792His) c.5307G>C (p.Gln1769His) c.5175G>C (p.Gln1725His) c.5208G>C (p.Gln1736His) c.1599G>C n.3258G>C c.4030G>C c.5235G>C (p.Gln1745His) n.973G>C c.5178G>C (p.Gln1726His) c.5244G>C (p.Gln1748His) c.5169G>C (p.Gln1723His) n.3024G>C c.5301G>C (p.Gln1767His) c.5247G>C (p.Gln1749His) c.5262G>C (p.Gln1754His) c.5172G>C (p.Gln1724His) c.5297G>C n.3460G>C c.5370G>C (p.Gln1790His) n.4191G>C n.2628G>C n.2599G>C n.2489G>C c.5031G>C (p.Gln1677His) c.*4543G>C (n.*4543G>C) c.5067G>C (p.Gln1689His) n.3099G>C c.1558G>C n.2491G>C c.5430G>C (p.Gln1810His) c.5427G>C (p.Gln1809His) c.5319G>C (p.Gln1773His) c.5298G>C (p.Gln1766His) c.4644G>C (p.Gln1548His) c.5592G>C (p.Gln1864His) c.5340G>C (p.Gln1780His) c.4086G>C (p.Gln1362His) | ClinVar dbSNP gnomAD v4 |
16 | g.2088562G= | CA2202034277 | TSC2 | c.*3725G= (n.*3725G=) c.5223G= (p.Gln1741=) c.5373G= (p.Gln1791=) c.*5889G= (n.*5889G=) c.*8125G= (n.*8125G=) c.5376G= (p.Gln1792=) c.5307G= (p.Gln1769=) c.5175G= (p.Gln1725=) c.5208G= (p.Gln1736=) c.1599G= n.3258G= c.4030G= c.5235G= (p.Gln1745=) n.973G= c.5178G= (p.Gln1726=) c.5244G= (p.Gln1748=) c.5169G= (p.Gln1723=) n.3024G= c.5301G= (p.Gln1767=) c.5247G= (p.Gln1749=) c.5262G= (p.Gln1754=) c.5172G= (p.Gln1724=) c.5297G= n.3460G= c.5370G= (p.Gln1790=) n.4191G= n.2628G= n.2599G= n.2489G= c.5031G= (p.Gln1677=) c.*4543G= (n.*4543G=) c.5067G= (p.Gln1689=) n.3099G= c.1558G= n.2491G= c.5430G= (p.Gln1810=) c.5427G= (p.Gln1809=) c.5319G= (p.Gln1773=) c.5298G= (p.Gln1766=) c.4644G= (p.Gln1548=) c.5592G= (p.Gln1864=) c.5340G= (p.Gln1780=) c.4086G= (p.Gln1362=) | |
16 | g.2088562G>T | CA394315963 | TSC2 | c.*3725G>T (n.*3725G>T) c.5223G>T (p.Gln1741His) c.5373G>T (p.Gln1791His) c.*5889G>T (n.*5889G>T) c.*8125G>T (n.*8125G>T) c.5376G>T (p.Gln1792His) c.5307G>T (p.Gln1769His) c.5175G>T (p.Gln1725His) c.5208G>T (p.Gln1736His) c.1599G>T n.3258G>T c.4030G>T c.5235G>T (p.Gln1745His) n.973G>T c.5178G>T (p.Gln1726His) c.5244G>T (p.Gln1748His) c.5169G>T (p.Gln1723His) n.3024G>T c.5301G>T (p.Gln1767His) c.5247G>T (p.Gln1749His) c.5262G>T (p.Gln1754His) c.5172G>T (p.Gln1724His) c.5297G>T n.3460G>T c.5370G>T (p.Gln1790His) n.4191G>T n.2628G>T n.2599G>T n.2489G>T c.5031G>T (p.Gln1677His) c.*4543G>T (n.*4543G>T) c.5067G>T (p.Gln1689His) n.3099G>T c.1558G>T n.2491G>T c.5430G>T (p.Gln1810His) c.5427G>T (p.Gln1809His) c.5319G>T (p.Gln1773His) c.5298G>T (p.Gln1766His) c.4644G>T (p.Gln1548His) c.5592G>T (p.Gln1864His) c.5340G>T (p.Gln1780His) c.4086G>T (p.Gln1362His) | gnomAD v4 |
16 | g.2088563C>A | CA493043774 | TSC2 | c.*3726C>A (n.*3726C>A) c.5224C>A (p.Arg1742=) c.5374C>A (p.Arg1792=) c.*5890C>A (n.*5890C>A) c.*8126C>A (n.*8126C>A) c.5377C>A (p.Arg1793=) c.5308C>A (p.Arg1770=) c.5176C>A (p.Arg1726=) c.5209C>A (p.Arg1737=) c.1600C>A n.3259C>A c.4031C>A c.5236C>A (p.Arg1746=) n.974C>A c.5179C>A (p.Arg1727=) c.5245C>A (p.Arg1749=) c.5170C>A (p.Arg1724=) n.3025C>A c.5302C>A (p.Arg1768=) c.5248C>A (p.Arg1750=) c.5263C>A (p.Arg1755=) c.5173C>A (p.Arg1725=) c.5298C>A n.3461C>A c.5371C>A (p.Arg1791=) n.4192C>A n.2629C>A n.2600C>A n.2490C>A c.5032C>A (p.Arg1678=) c.*4544C>A (n.*4544C>A) c.5068C>A (p.Arg1690=) n.3100C>A c.1559C>A n.2492C>A c.5431C>A (p.Arg1811=) c.5428C>A (p.Arg1810=) c.5320C>A (p.Arg1774=) c.5299C>A (p.Arg1767=) c.4645C>A (p.Arg1549=) c.5593C>A (p.Arg1865=) c.5341C>A (p.Arg1781=) c.4087C>A (p.Arg1363=) | ClinVar |
16 | g.2088563C= | CA2202034285 | TSC2 | c.*3726C= (n.*3726C=) c.5224C= (p.Arg1742=) c.5374C= (p.Arg1792=) c.*5890C= (n.*5890C=) c.*8126C= (n.*8126C=) c.5377C= (p.Arg1793=) c.5308C= (p.Arg1770=) c.5176C= (p.Arg1726=) c.5209C= (p.Arg1737=) c.1600C= n.3259C= c.4031C= c.5236C= (p.Arg1746=) n.974C= c.5179C= (p.Arg1727=) c.5245C= (p.Arg1749=) c.5170C= (p.Arg1724=) n.3025C= c.5302C= (p.Arg1768=) c.5248C= (p.Arg1750=) c.5263C= (p.Arg1755=) c.5173C= (p.Arg1725=) c.5298C= n.3461C= c.5371C= (p.Arg1791=) n.4192C= n.2629C= n.2600C= n.2490C= c.5032C= (p.Arg1678=) c.*4544C= (n.*4544C=) c.5068C= (p.Arg1690=) n.3100C= c.1559C= n.2492C= c.5431C= (p.Arg1811=) c.5428C= (p.Arg1810=) c.5320C= (p.Arg1774=) c.5299C= (p.Arg1767=) c.4645C= (p.Arg1549=) c.5593C= (p.Arg1865=) c.5341C= (p.Arg1781=) c.4087C= (p.Arg1363=) | |
16 | g.2088563C>G | CA394315966 | TSC2 | c.*3726C>G (n.*3726C>G) c.5224C>G (p.Arg1742Gly) c.5374C>G (p.Arg1792Gly) c.*5890C>G (n.*5890C>G) c.*8126C>G (n.*8126C>G) c.5377C>G (p.Arg1793Gly) c.5308C>G (p.Arg1770Gly) c.5176C>G (p.Arg1726Gly) c.5209C>G (p.Arg1737Gly) c.1600C>G n.3259C>G c.4031C>G c.5236C>G (p.Arg1746Gly) n.974C>G c.5179C>G (p.Arg1727Gly) c.5245C>G (p.Arg1749Gly) c.5170C>G (p.Arg1724Gly) n.3025C>G c.5302C>G (p.Arg1768Gly) c.5248C>G (p.Arg1750Gly) c.5263C>G (p.Arg1755Gly) c.5173C>G (p.Arg1725Gly) c.5298C>G n.3461C>G c.5371C>G (p.Arg1791Gly) n.4192C>G n.2629C>G n.2600C>G n.2490C>G c.5032C>G (p.Arg1678Gly) c.*4544C>G (n.*4544C>G) c.5068C>G (p.Arg1690Gly) n.3100C>G c.1559C>G n.2492C>G c.5431C>G (p.Arg1811Gly) c.5428C>G (p.Arg1810Gly) c.5320C>G (p.Arg1774Gly) c.5299C>G (p.Arg1767Gly) c.4645C>G (p.Arg1549Gly) c.5593C>G (p.Arg1865Gly) c.5341C>G (p.Arg1781Gly) c.4087C>G (p.Arg1363Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088563C>T | CA394315971 | TSC2 | c.*3726C>T (n.*3726C>T) c.5224C>T (p.Arg1742Trp) c.5374C>T (p.Arg1792Trp) c.*5890C>T (n.*5890C>T) c.*8126C>T (n.*8126C>T) c.5377C>T (p.Arg1793Trp) c.5308C>T (p.Arg1770Trp) c.5176C>T (p.Arg1726Trp) c.5209C>T (p.Arg1737Trp) c.1600C>T n.3259C>T c.4031C>T c.5236C>T (p.Arg1746Trp) n.974C>T c.5179C>T (p.Arg1727Trp) c.5245C>T (p.Arg1749Trp) c.5170C>T (p.Arg1724Trp) n.3025C>T c.5302C>T (p.Arg1768Trp) c.5248C>T (p.Arg1750Trp) c.5263C>T (p.Arg1755Trp) c.5173C>T (p.Arg1725Trp) c.5298C>T n.3461C>T c.5371C>T (p.Arg1791Trp) n.4192C>T n.2629C>T n.2600C>T n.2490C>T c.5032C>T (p.Arg1678Trp) c.*4544C>T (n.*4544C>T) c.5068C>T (p.Arg1690Trp) n.3100C>T c.1559C>T n.2492C>T c.5431C>T (p.Arg1811Trp) c.5428C>T (p.Arg1810Trp) c.5320C>T (p.Arg1774Trp) c.5299C>T (p.Arg1767Trp) c.4645C>T (p.Arg1549Trp) c.5593C>T (p.Arg1865Trp) c.5341C>T (p.Arg1781Trp) c.4087C>T (p.Arg1363Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088563dup | CA2573151992 | TSC2 | c.*3726dup (n.*3726dup) c.5224dup (p.Arg1742ProfsTer?) c.5374dup (p.Arg1792ProfsTer?) c.*5890dup (n.*5890dup) c.*8126dup (n.*8126dup) c.5377dup (p.Arg1793ProfsTer?) c.5308dup (p.Arg1770ProfsTer?) c.5176dup (p.Arg1726ProfsTer?) c.5209dup (p.Arg1737ProfsTer?) c.1600dup n.3259dup c.4031dup c.5236dup (p.Arg1746ProfsTer?) n.974dup c.5179dup (p.Arg1727ProfsTer?) c.5245dup (p.Arg1749ProfsTer?) c.5170dup (p.Arg1724ProfsTer?) n.3025dup c.5302dup (p.Arg1768ProfsTer?) c.5248dup (p.Arg1750ProfsTer?) c.5263dup (p.Arg1755ProfsTer?) c.5173dup (p.Arg1725ProfsTer?) c.5298dup n.3461dup c.5371dup (p.Arg1791ProfsTer?) n.4192dup n.2629dup n.2600dup n.2490dup c.5032dup (p.Arg1678ProfsTer?) c.*4544dup (n.*4544dup) c.5068dup (p.Arg1690ProfsTer?) n.3100dup c.1559dup n.2492dup c.5431dup (p.Arg1811ProfsTer?) c.5428dup (p.Arg1810ProfsTer?) c.5320dup (p.Arg1774ProfsTer?) c.5299dup (p.Arg1767ProfsTer?) c.4645dup (p.Arg1549ProfsTer?) c.5593dup (p.Arg1865ProfsTer?) c.5341dup (p.Arg1781ProfsTer?) c.4087dup (p.Arg1363ProfsTer?) | ClinVar dbSNP |
16 | g.2088563_2088564insT | CA2499223358 | TSC2 | c.*3726_*3727insT (n.*3726_*3727insT) c.5224_5225insT (p.Arg1742LeufsTer?) c.5374_5375insT (p.Arg1792LeufsTer?) c.*5890_*5891insT (n.*5890_*5891insT) c.*8126_*8127insT (n.*8126_*8127insT) c.5377_5378insT (p.Arg1793LeufsTer?) c.5308_5309insT (p.Arg1770LeufsTer?) c.5176_5177insT (p.Arg1726LeufsTer?) c.5209_5210insT (p.Arg1737LeufsTer?) c.1600_1601insT n.3259_3260insT c.4031_4032insT c.5236_5237insT (p.Arg1746LeufsTer?) n.974_975insT c.5179_5180insT (p.Arg1727LeufsTer?) c.5245_5246insT (p.Arg1749LeufsTer?) c.5170_5171insT (p.Arg1724LeufsTer?) n.3025_3026insT c.5302_5303insT (p.Arg1768LeufsTer?) c.5248_5249insT (p.Arg1750LeufsTer?) c.5263_5264insT (p.Arg1755LeufsTer?) c.5173_5174insT (p.Arg1725LeufsTer?) c.5298_5299insT n.3461_3462insT c.5371_5372insT (p.Arg1791LeufsTer?) n.4192_4193insT n.2629_2630insT n.2600_2601insT n.2490_2491insT c.5032_5033insT (p.Arg1678LeufsTer?) c.*4544_*4545insT (n.*4544_*4545insT) c.5068_5069insT (p.Arg1690LeufsTer?) n.3100_3101insT c.1559_1560insT n.2492_2493insT c.5431_5432insT (p.Arg1811LeufsTer?) c.5428_5429insT (p.Arg1810LeufsTer?) c.5320_5321insT (p.Arg1774LeufsTer?) c.5299_5300insT (p.Arg1767LeufsTer?) c.4645_4646insT (p.Arg1549LeufsTer?) c.5593_5594insT (p.Arg1865LeufsTer?) c.5341_5342insT (p.Arg1781LeufsTer?) c.4087_4088insT (p.Arg1363LeufsTer?) | ClinVar dbSNP |
16 | g.2088564G>A | CA022436 | TSC2 | c.*3727G>A (n.*3727G>A) c.5225G>A (p.Arg1742Gln) c.5375G>A (p.Arg1792Gln) c.*5891G>A (n.*5891G>A) c.*8127G>A (n.*8127G>A) c.5378G>A (p.Arg1793Gln) c.5309G>A (p.Arg1770Gln) c.5177G>A (p.Arg1726Gln) c.5210G>A (p.Arg1737Gln) c.1601G>A n.3260G>A c.4032G>A c.5237G>A (p.Arg1746Gln) n.975G>A c.5180G>A (p.Arg1727Gln) c.5246G>A (p.Arg1749Gln) c.5171G>A (p.Arg1724Gln) n.3026G>A c.5303G>A (p.Arg1768Gln) c.5249G>A (p.Arg1750Gln) c.5264G>A (p.Arg1755Gln) c.5174G>A (p.Arg1725Gln) c.5299G>A n.3462G>A c.5372G>A (p.Arg1791Gln) n.4193G>A n.2630G>A n.2601G>A n.2491G>A c.5033G>A (p.Arg1678Gln) c.*4545G>A (n.*4545G>A) c.5069G>A (p.Arg1690Gln) n.3101G>A c.1560G>A n.2493G>A c.5432G>A (p.Arg1811Gln) c.5429G>A (p.Arg1810Gln) c.5321G>A (p.Arg1774Gln) c.5300G>A (p.Arg1767Gln) c.4646G>A (p.Arg1549Gln) c.5594G>A (p.Arg1865Gln) c.5342G>A (p.Arg1781Gln) c.4088G>A (p.Arg1363Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088564G>C | CA394315973 | TSC2 | c.*3727G>C (n.*3727G>C) c.5225G>C (p.Arg1742Pro) c.5375G>C (p.Arg1792Pro) c.*5891G>C (n.*5891G>C) c.*8127G>C (n.*8127G>C) c.5378G>C (p.Arg1793Pro) c.5309G>C (p.Arg1770Pro) c.5177G>C (p.Arg1726Pro) c.5210G>C (p.Arg1737Pro) c.1601G>C n.3260G>C c.4032G>C c.5237G>C (p.Arg1746Pro) n.975G>C c.5180G>C (p.Arg1727Pro) c.5246G>C (p.Arg1749Pro) c.5171G>C (p.Arg1724Pro) n.3026G>C c.5303G>C (p.Arg1768Pro) c.5249G>C (p.Arg1750Pro) c.5264G>C (p.Arg1755Pro) c.5174G>C (p.Arg1725Pro) c.5299G>C n.3462G>C c.5372G>C (p.Arg1791Pro) n.4193G>C n.2630G>C n.2601G>C n.2491G>C c.5033G>C (p.Arg1678Pro) c.*4545G>C (n.*4545G>C) c.5069G>C (p.Arg1690Pro) n.3101G>C c.1560G>C n.2493G>C c.5432G>C (p.Arg1811Pro) c.5429G>C (p.Arg1810Pro) c.5321G>C (p.Arg1774Pro) c.5300G>C (p.Arg1767Pro) c.4646G>C (p.Arg1549Pro) c.5594G>C (p.Arg1865Pro) c.5342G>C (p.Arg1781Pro) c.4088G>C (p.Arg1363Pro) | ClinVar dbSNP |
16 | g.2088564G= | CA2202034297 | TSC2 | c.*3727G= (n.*3727G=) c.5225G= (p.Arg1742=) c.5375G= (p.Arg1792=) c.*5891G= (n.*5891G=) c.*8127G= (n.*8127G=) c.5378G= (p.Arg1793=) c.5309G= (p.Arg1770=) c.5177G= (p.Arg1726=) c.5210G= (p.Arg1737=) c.1601G= n.3260G= c.4032G= c.5237G= (p.Arg1746=) n.975G= c.5180G= (p.Arg1727=) c.5246G= (p.Arg1749=) c.5171G= (p.Arg1724=) n.3026G= c.5303G= (p.Arg1768=) c.5249G= (p.Arg1750=) c.5264G= (p.Arg1755=) c.5174G= (p.Arg1725=) c.5299G= n.3462G= c.5372G= (p.Arg1791=) n.4193G= n.2630G= n.2601G= n.2491G= c.5033G= (p.Arg1678=) c.*4545G= (n.*4545G=) c.5069G= (p.Arg1690=) n.3101G= c.1560G= n.2493G= c.5432G= (p.Arg1811=) c.5429G= (p.Arg1810=) c.5321G= (p.Arg1774=) c.5300G= (p.Arg1767=) c.4646G= (p.Arg1549=) c.5594G= (p.Arg1865=) c.5342G= (p.Arg1781=) c.4088G= (p.Arg1363=) | |
16 | g.2088564G>T | CA394315974 | TSC2 | c.*3727G>T (n.*3727G>T) c.5225G>T (p.Arg1742Leu) c.5375G>T (p.Arg1792Leu) c.*5891G>T (n.*5891G>T) c.*8127G>T (n.*8127G>T) c.5378G>T (p.Arg1793Leu) c.5309G>T (p.Arg1770Leu) c.5177G>T (p.Arg1726Leu) c.5210G>T (p.Arg1737Leu) c.1601G>T n.3260G>T c.4032G>T c.5237G>T (p.Arg1746Leu) n.975G>T c.5180G>T (p.Arg1727Leu) c.5246G>T (p.Arg1749Leu) c.5171G>T (p.Arg1724Leu) n.3026G>T c.5303G>T (p.Arg1768Leu) c.5249G>T (p.Arg1750Leu) c.5264G>T (p.Arg1755Leu) c.5174G>T (p.Arg1725Leu) c.5299G>T n.3462G>T c.5372G>T (p.Arg1791Leu) n.4193G>T n.2630G>T n.2601G>T n.2491G>T c.5033G>T (p.Arg1678Leu) c.*4545G>T (n.*4545G>T) c.5069G>T (p.Arg1690Leu) n.3101G>T c.1560G>T n.2493G>T c.5432G>T (p.Arg1811Leu) c.5429G>T (p.Arg1810Leu) c.5321G>T (p.Arg1774Leu) c.5300G>T (p.Arg1767Leu) c.4646G>T (p.Arg1549Leu) c.5594G>T (p.Arg1865Leu) c.5342G>T (p.Arg1781Leu) c.4088G>T (p.Arg1363Leu) | |
16 | g.2088565G>A | CA055256 | TSC2 | c.*3728G>A (n.*3728G>A) c.5226G>A (p.Arg1742=) c.5376G>A (p.Arg1792=) c.*5892G>A (n.*5892G>A) c.*8128G>A (n.*8128G>A) c.5379G>A (p.Arg1793=) c.5310G>A (p.Arg1770=) c.5178G>A (p.Arg1726=) c.5211G>A (p.Arg1737=) c.1602G>A n.3261G>A c.4033G>A c.5238G>A (p.Arg1746=) n.976G>A c.5181G>A (p.Arg1727=) c.5247G>A (p.Arg1749=) c.5172G>A (p.Arg1724=) n.3027G>A c.5304G>A (p.Arg1768=) c.5250G>A (p.Arg1750=) c.5265G>A (p.Arg1755=) c.5175G>A (p.Arg1725=) c.5300G>A n.3463G>A c.5373G>A (p.Arg1791=) n.4194G>A n.2631G>A n.2602G>A n.2492G>A c.5034G>A (p.Arg1678=) c.*4546G>A (n.*4546G>A) c.5070G>A (p.Arg1690=) n.3102G>A c.1561G>A n.2494G>A c.5433G>A (p.Arg1811=) c.5430G>A (p.Arg1810=) c.5322G>A (p.Arg1774=) c.5301G>A (p.Arg1767=) c.4647G>A (p.Arg1549=) c.5595G>A (p.Arg1865=) c.5343G>A (p.Arg1781=) c.4089G>A (p.Arg1363=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088565G>C | CA493043777 | TSC2 | c.*3728G>C (n.*3728G>C) c.5226G>C (p.Arg1742=) c.5376G>C (p.Arg1792=) c.*5892G>C (n.*5892G>C) c.*8128G>C (n.*8128G>C) c.5379G>C (p.Arg1793=) c.5310G>C (p.Arg1770=) c.5178G>C (p.Arg1726=) c.5211G>C (p.Arg1737=) c.1602G>C n.3261G>C c.4033G>C c.5238G>C (p.Arg1746=) n.976G>C c.5181G>C (p.Arg1727=) c.5247G>C (p.Arg1749=) c.5172G>C (p.Arg1724=) n.3027G>C c.5304G>C (p.Arg1768=) c.5250G>C (p.Arg1750=) c.5265G>C (p.Arg1755=) c.5175G>C (p.Arg1725=) c.5300G>C n.3463G>C c.5373G>C (p.Arg1791=) n.4194G>C n.2631G>C n.2602G>C n.2492G>C c.5034G>C (p.Arg1678=) c.*4546G>C (n.*4546G>C) c.5070G>C (p.Arg1690=) n.3102G>C c.1561G>C n.2494G>C c.5433G>C (p.Arg1811=) c.5430G>C (p.Arg1810=) c.5322G>C (p.Arg1774=) c.5301G>C (p.Arg1767=) c.4647G>C (p.Arg1549=) c.5595G>C (p.Arg1865=) c.5343G>C (p.Arg1781=) c.4089G>C (p.Arg1363=) | gnomAD v4 |
16 | g.2088565G= | CA2202034308 | TSC2 | c.*3728G= (n.*3728G=) c.5226G= (p.Arg1742=) c.5376G= (p.Arg1792=) c.*5892G= (n.*5892G=) c.*8128G= (n.*8128G=) c.5379G= (p.Arg1793=) c.5310G= (p.Arg1770=) c.5178G= (p.Arg1726=) c.5211G= (p.Arg1737=) c.1602G= n.3261G= c.4033G= c.5238G= (p.Arg1746=) n.976G= c.5181G= (p.Arg1727=) c.5247G= (p.Arg1749=) c.5172G= (p.Arg1724=) n.3027G= c.5304G= (p.Arg1768=) c.5250G= (p.Arg1750=) c.5265G= (p.Arg1755=) c.5175G= (p.Arg1725=) c.5300G= n.3463G= c.5373G= (p.Arg1791=) n.4194G= n.2631G= n.2602G= n.2492G= c.5034G= (p.Arg1678=) c.*4546G= (n.*4546G=) c.5070G= (p.Arg1690=) n.3102G= c.1561G= n.2494G= c.5433G= (p.Arg1811=) c.5430G= (p.Arg1810=) c.5322G= (p.Arg1774=) c.5301G= (p.Arg1767=) c.4647G= (p.Arg1549=) c.5595G= (p.Arg1865=) c.5343G= (p.Arg1781=) c.4089G= (p.Arg1363=) | |
16 | g.2088565G>T | CA493043776 | TSC2 | c.*3728G>T (n.*3728G>T) c.5226G>T (p.Arg1742=) c.5376G>T (p.Arg1792=) c.*5892G>T (n.*5892G>T) c.*8128G>T (n.*8128G>T) c.5379G>T (p.Arg1793=) c.5310G>T (p.Arg1770=) c.5178G>T (p.Arg1726=) c.5211G>T (p.Arg1737=) c.1602G>T n.3261G>T c.4033G>T c.5238G>T (p.Arg1746=) n.976G>T c.5181G>T (p.Arg1727=) c.5247G>T (p.Arg1749=) c.5172G>T (p.Arg1724=) n.3027G>T c.5304G>T (p.Arg1768=) c.5250G>T (p.Arg1750=) c.5265G>T (p.Arg1755=) c.5175G>T (p.Arg1725=) c.5300G>T n.3463G>T c.5373G>T (p.Arg1791=) n.4194G>T n.2631G>T n.2602G>T n.2492G>T c.5034G>T (p.Arg1678=) c.*4546G>T (n.*4546G>T) c.5070G>T (p.Arg1690=) n.3102G>T c.1561G>T n.2494G>T c.5433G>T (p.Arg1811=) c.5430G>T (p.Arg1810=) c.5322G>T (p.Arg1774=) c.5301G>T (p.Arg1767=) c.4647G>T (p.Arg1549=) c.5595G>T (p.Arg1865=) c.5343G>T (p.Arg1781=) c.4089G>T (p.Arg1363=) | gnomAD v4 |
16 | g.2088566_2088568dup | CA022443 | TSC2 | c.*3729_*3731dup (n.*3729_*3731dup) c.5227_5229dup (p.Lys1743_Arg1744insLys) c.5377_5379dup (p.Lys1793_Arg1794insLys) c.*5893_*5895dup (n.*5893_*5895dup) c.*8129_*8131dup (n.*8129_*8131dup) c.5380_5382dup (p.Lys1794_Arg1795insLys) c.5311_5313dup (p.Lys1771_Arg1772insLys) c.5179_5181dup (p.Lys1727_Arg1728insLys) c.5212_5214dup (p.Lys1738_Arg1739insLys) c.1603_1605dup n.3262_3264dup c.4034_4036dup c.5239_5241dup (p.Lys1747_Arg1748insLys) n.977_979dup c.5182_5184dup (p.Lys1728_Arg1729insLys) c.5248_5250dup (p.Lys1750_Arg1751insLys) c.5173_5175dup (p.Lys1725_Arg1726insLys) n.3028_3030dup c.5305_5307dup (p.Lys1769_Arg1770insLys) c.5251_5253dup (p.Lys1751_Arg1752insLys) c.5266_5268dup (p.Lys1756_Arg1757insLys) c.5176_5178dup (p.Lys1726_Arg1727insLys) c.5301_5303dup n.3464_3466dup c.5374_5376dup (p.Lys1792_Arg1793insLys) n.4195_4197dup n.2632_2634dup n.2603_2605dup n.2493_2495dup c.5035_5037dup (p.Lys1679_Arg1680insLys) c.*4547_*4549dup (n.*4547_*4549dup) c.5071_5073dup (p.Lys1691_Arg1692insLys) n.3103_3105dup c.1562_1564dup n.2495_2497dup c.5434_5436dup (p.Lys1812_Arg1813insLys) c.5431_5433dup (p.Lys1811_Arg1812insLys) c.5323_5325dup (p.Lys1775_Arg1776insLys) c.5302_5304dup (p.Lys1768_Arg1769insLys) c.4648_4650dup (p.Lys1550_Arg1551insLys) c.5596_5598dup (p.Lys1866_Arg1867insLys) c.5344_5346dup (p.Lys1782_Arg1783insLys) c.4090_4092dup (p.Lys1364_Arg1365insLys) | ClinVar dbSNP gnomAD v4 |
16 | g.2088566A>C | CA394315983 | TSC2 | c.*3729A>C (n.*3729A>C) c.5227A>C (p.Lys1743Gln) c.5377A>C (p.Lys1793Gln) c.*5893A>C (n.*5893A>C) c.*8129A>C (n.*8129A>C) c.5380A>C (p.Lys1794Gln) c.5311A>C (p.Lys1771Gln) c.5179A>C (p.Lys1727Gln) c.5212A>C (p.Lys1738Gln) c.1603A>C n.3262A>C c.4034A>C c.5239A>C (p.Lys1747Gln) n.977A>C c.5182A>C (p.Lys1728Gln) c.5248A>C (p.Lys1750Gln) c.5173A>C (p.Lys1725Gln) n.3028A>C c.5305A>C (p.Lys1769Gln) c.5251A>C (p.Lys1751Gln) c.5266A>C (p.Lys1756Gln) c.5176A>C (p.Lys1726Gln) c.5301A>C n.3464A>C c.5374A>C (p.Lys1792Gln) n.4195A>C n.2632A>C n.2603A>C n.2493A>C c.5035A>C (p.Lys1679Gln) c.*4547A>C (n.*4547A>C) c.5071A>C (p.Lys1691Gln) n.3103A>C c.1562A>C n.2495A>C c.5434A>C (p.Lys1812Gln) c.5431A>C (p.Lys1811Gln) c.5323A>C (p.Lys1775Gln) c.5302A>C (p.Lys1768Gln) c.4648A>C (p.Lys1550Gln) c.5596A>C (p.Lys1866Gln) c.5344A>C (p.Lys1782Gln) c.4090A>C (p.Lys1364Gln) | ClinVar |
16 | g.2088566A>G | CA394315985 | TSC2 | c.*3729A>G (n.*3729A>G) c.5227A>G (p.Lys1743Glu) c.5377A>G (p.Lys1793Glu) c.*5893A>G (n.*5893A>G) c.*8129A>G (n.*8129A>G) c.5380A>G (p.Lys1794Glu) c.5311A>G (p.Lys1771Glu) c.5179A>G (p.Lys1727Glu) c.5212A>G (p.Lys1738Glu) c.1603A>G n.3262A>G c.4034A>G c.5239A>G (p.Lys1747Glu) n.977A>G c.5182A>G (p.Lys1728Glu) c.5248A>G (p.Lys1750Glu) c.5173A>G (p.Lys1725Glu) n.3028A>G c.5305A>G (p.Lys1769Glu) c.5251A>G (p.Lys1751Glu) c.5266A>G (p.Lys1756Glu) c.5176A>G (p.Lys1726Glu) c.5301A>G n.3464A>G c.5374A>G (p.Lys1792Glu) n.4195A>G n.2632A>G n.2603A>G n.2493A>G c.5035A>G (p.Lys1679Glu) c.*4547A>G (n.*4547A>G) c.5071A>G (p.Lys1691Glu) n.3103A>G c.1562A>G n.2495A>G c.5434A>G (p.Lys1812Glu) c.5431A>G (p.Lys1811Glu) c.5323A>G (p.Lys1775Glu) c.5302A>G (p.Lys1768Glu) c.4648A>G (p.Lys1550Glu) c.5596A>G (p.Lys1866Glu) c.5344A>G (p.Lys1782Glu) c.4090A>G (p.Lys1364Glu) | |
16 | g.2088566A>T | CA394315989 | TSC2 | c.*3729A>T (n.*3729A>T) c.5227A>T (p.Lys1743Ter) c.5377A>T (p.Lys1793Ter) c.*5893A>T (n.*5893A>T) c.*8129A>T (n.*8129A>T) c.5380A>T (p.Lys1794Ter) c.5311A>T (p.Lys1771Ter) c.5179A>T (p.Lys1727Ter) c.5212A>T (p.Lys1738Ter) c.1603A>T n.3262A>T c.4034A>T c.5239A>T (p.Lys1747Ter) n.977A>T c.5182A>T (p.Lys1728Ter) c.5248A>T (p.Lys1750Ter) c.5173A>T (p.Lys1725Ter) n.3028A>T c.5305A>T (p.Lys1769Ter) c.5251A>T (p.Lys1751Ter) c.5266A>T (p.Lys1756Ter) c.5176A>T (p.Lys1726Ter) c.5301A>T n.3464A>T c.5374A>T (p.Lys1792Ter) n.4195A>T n.2632A>T n.2603A>T n.2493A>T c.5035A>T (p.Lys1679Ter) c.*4547A>T (n.*4547A>T) c.5071A>T (p.Lys1691Ter) n.3103A>T c.1562A>T n.2495A>T c.5434A>T (p.Lys1812Ter) c.5431A>T (p.Lys1811Ter) c.5323A>T (p.Lys1775Ter) c.5302A>T (p.Lys1768Ter) c.4648A>T (p.Lys1550Ter) c.5596A>T (p.Lys1866Ter) c.5344A>T (p.Lys1782Ter) c.4090A>T (p.Lys1364Ter) | |
16 | g.2088567A= | CA2202034316 | TSC2 | c.*3730A= (n.*3730A=) c.5228A= (p.Lys1743=) c.5378A= (p.Lys1793=) c.*5894A= (n.*5894A=) c.*8130A= (n.*8130A=) c.5381A= (p.Lys1794=) c.5312A= (p.Lys1771=) c.5180A= (p.Lys1727=) c.5213A= (p.Lys1738=) c.1604A= n.3263A= c.4035A= c.5240A= (p.Lys1747=) n.978A= c.5183A= (p.Lys1728=) c.5249A= (p.Lys1750=) c.5174A= (p.Lys1725=) n.3029A= c.5306A= (p.Lys1769=) c.5252A= (p.Lys1751=) c.5267A= (p.Lys1756=) c.5177A= (p.Lys1726=) c.5302A= n.3465A= c.5375A= (p.Lys1792=) n.4196A= n.2633A= n.2604A= n.2494A= c.5036A= (p.Lys1679=) c.*4548A= (n.*4548A=) c.5072A= (p.Lys1691=) n.3104A= c.1563A= n.2496A= c.5435A= (p.Lys1812=) c.5432A= (p.Lys1811=) c.5324A= (p.Lys1775=) c.5303A= (p.Lys1768=) c.4649A= (p.Lys1550=) c.5597A= (p.Lys1866=) c.5345A= (p.Lys1782=) c.4091A= (p.Lys1364=) | |
16 | g.2088567A>C | CA394315998 | TSC2 | c.*3730A>C (n.*3730A>C) c.5228A>C (p.Lys1743Thr) c.5378A>C (p.Lys1793Thr) c.*5894A>C (n.*5894A>C) c.*8130A>C (n.*8130A>C) c.5381A>C (p.Lys1794Thr) c.5312A>C (p.Lys1771Thr) c.5180A>C (p.Lys1727Thr) c.5213A>C (p.Lys1738Thr) c.1604A>C n.3263A>C c.4035A>C c.5240A>C (p.Lys1747Thr) n.978A>C c.5183A>C (p.Lys1728Thr) c.5249A>C (p.Lys1750Thr) c.5174A>C (p.Lys1725Thr) n.3029A>C c.5306A>C (p.Lys1769Thr) c.5252A>C (p.Lys1751Thr) c.5267A>C (p.Lys1756Thr) c.5177A>C (p.Lys1726Thr) c.5302A>C n.3465A>C c.5375A>C (p.Lys1792Thr) n.4196A>C n.2633A>C n.2604A>C n.2494A>C c.5036A>C (p.Lys1679Thr) c.*4548A>C (n.*4548A>C) c.5072A>C (p.Lys1691Thr) n.3104A>C c.1563A>C n.2496A>C c.5435A>C (p.Lys1812Thr) c.5432A>C (p.Lys1811Thr) c.5324A>C (p.Lys1775Thr) c.5303A>C (p.Lys1768Thr) c.4649A>C (p.Lys1550Thr) c.5597A>C (p.Lys1866Thr) c.5345A>C (p.Lys1782Thr) c.4091A>C (p.Lys1364Thr) | ClinVar |
16 | g.2088567A>G | CA055265 | TSC2 | c.*3730A>G (n.*3730A>G) c.5228A>G (p.Lys1743Arg) c.5378A>G (p.Lys1793Arg) c.*5894A>G (n.*5894A>G) c.*8130A>G (n.*8130A>G) c.5381A>G (p.Lys1794Arg) c.5312A>G (p.Lys1771Arg) c.5180A>G (p.Lys1727Arg) c.5213A>G (p.Lys1738Arg) c.1604A>G n.3263A>G c.4035A>G c.5240A>G (p.Lys1747Arg) n.978A>G c.5183A>G (p.Lys1728Arg) c.5249A>G (p.Lys1750Arg) c.5174A>G (p.Lys1725Arg) n.3029A>G c.5306A>G (p.Lys1769Arg) c.5252A>G (p.Lys1751Arg) c.5267A>G (p.Lys1756Arg) c.5177A>G (p.Lys1726Arg) c.5302A>G n.3465A>G c.5375A>G (p.Lys1792Arg) n.4196A>G n.2633A>G n.2604A>G n.2494A>G c.5036A>G (p.Lys1679Arg) c.*4548A>G (n.*4548A>G) c.5072A>G (p.Lys1691Arg) n.3104A>G c.1563A>G n.2496A>G c.5435A>G (p.Lys1812Arg) c.5432A>G (p.Lys1811Arg) c.5324A>G (p.Lys1775Arg) c.5303A>G (p.Lys1768Arg) c.4649A>G (p.Lys1550Arg) c.5597A>G (p.Lys1866Arg) c.5345A>G (p.Lys1782Arg) c.4091A>G (p.Lys1364Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2088567A>T | CA394315996 | TSC2 | c.*3730A>T (n.*3730A>T) c.5228A>T (p.Lys1743Met) c.5378A>T (p.Lys1793Met) c.*5894A>T (n.*5894A>T) c.*8130A>T (n.*8130A>T) c.5381A>T (p.Lys1794Met) c.5312A>T (p.Lys1771Met) c.5180A>T (p.Lys1727Met) c.5213A>T (p.Lys1738Met) c.1604A>T n.3263A>T c.4035A>T c.5240A>T (p.Lys1747Met) n.978A>T c.5183A>T (p.Lys1728Met) c.5249A>T (p.Lys1750Met) c.5174A>T (p.Lys1725Met) n.3029A>T c.5306A>T (p.Lys1769Met) c.5252A>T (p.Lys1751Met) c.5267A>T (p.Lys1756Met) c.5177A>T (p.Lys1726Met) c.5302A>T n.3465A>T c.5375A>T (p.Lys1792Met) n.4196A>T n.2633A>T n.2604A>T n.2494A>T c.5036A>T (p.Lys1679Met) c.*4548A>T (n.*4548A>T) c.5072A>T (p.Lys1691Met) n.3104A>T c.1563A>T n.2496A>T c.5435A>T (p.Lys1812Met) c.5432A>T (p.Lys1811Met) c.5324A>T (p.Lys1775Met) c.5303A>T (p.Lys1768Met) c.4649A>T (p.Lys1550Met) c.5597A>T (p.Lys1866Met) c.5345A>T (p.Lys1782Met) c.4091A>T (p.Lys1364Met) | dbSNP |
16 | g.2088568G>A | CA493043782 | TSC2 | c.*3731G>A (n.*3731G>A) c.5229G>A (p.Lys1743=) c.5379G>A (p.Lys1793=) c.*5895G>A (n.*5895G>A) c.*8131G>A (n.*8131G>A) c.5382G>A (p.Lys1794=) c.5313G>A (p.Lys1771=) c.5181G>A (p.Lys1727=) c.5214G>A (p.Lys1738=) c.1605G>A n.3264G>A c.4036G>A c.5241G>A (p.Lys1747=) n.979G>A c.5184G>A (p.Lys1728=) c.5250G>A (p.Lys1750=) c.5175G>A (p.Lys1725=) n.3030G>A c.5307G>A (p.Lys1769=) c.5253G>A (p.Lys1751=) c.5268G>A (p.Lys1756=) c.5178G>A (p.Lys1726=) c.5303G>A n.3466G>A c.5376G>A (p.Lys1792=) n.4197G>A n.2634G>A n.2605G>A n.2495G>A c.5037G>A (p.Lys1679=) c.*4549G>A (n.*4549G>A) c.5073G>A (p.Lys1691=) n.3105G>A c.1564G>A n.2497G>A c.5436G>A (p.Lys1812=) c.5433G>A (p.Lys1811=) c.5325G>A (p.Lys1775=) c.5304G>A (p.Lys1768=) c.4650G>A (p.Lys1550=) c.5598G>A (p.Lys1866=) c.5346G>A (p.Lys1782=) c.4092G>A (p.Lys1364=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088568G>C | CA394316001 | TSC2 | c.*3731G>C (n.*3731G>C) c.5229G>C (p.Lys1743Asn) c.5379G>C (p.Lys1793Asn) c.*5895G>C (n.*5895G>C) c.*8131G>C (n.*8131G>C) c.5382G>C (p.Lys1794Asn) c.5313G>C (p.Lys1771Asn) c.5181G>C (p.Lys1727Asn) c.5214G>C (p.Lys1738Asn) c.1605G>C n.3264G>C c.4036G>C c.5241G>C (p.Lys1747Asn) n.979G>C c.5184G>C (p.Lys1728Asn) c.5250G>C (p.Lys1750Asn) c.5175G>C (p.Lys1725Asn) n.3030G>C c.5307G>C (p.Lys1769Asn) c.5253G>C (p.Lys1751Asn) c.5268G>C (p.Lys1756Asn) c.5178G>C (p.Lys1726Asn) c.5303G>C n.3466G>C c.5376G>C (p.Lys1792Asn) n.4197G>C n.2634G>C n.2605G>C n.2495G>C c.5037G>C (p.Lys1679Asn) c.*4549G>C (n.*4549G>C) c.5073G>C (p.Lys1691Asn) n.3105G>C c.1564G>C n.2497G>C c.5436G>C (p.Lys1812Asn) c.5433G>C (p.Lys1811Asn) c.5325G>C (p.Lys1775Asn) c.5304G>C (p.Lys1768Asn) c.4650G>C (p.Lys1550Asn) c.5598G>C (p.Lys1866Asn) c.5346G>C (p.Lys1782Asn) c.4092G>C (p.Lys1364Asn) | |
16 | g.2088568G= | CA2202034323 | TSC2 | c.*3731G= (n.*3731G=) c.5229G= (p.Lys1743=) c.5379G= (p.Lys1793=) c.*5895G= (n.*5895G=) c.*8131G= (n.*8131G=) c.5382G= (p.Lys1794=) c.5313G= (p.Lys1771=) c.5181G= (p.Lys1727=) c.5214G= (p.Lys1738=) c.1605G= n.3264G= c.4036G= c.5241G= (p.Lys1747=) n.979G= c.5184G= (p.Lys1728=) c.5250G= (p.Lys1750=) c.5175G= (p.Lys1725=) n.3030G= c.5307G= (p.Lys1769=) c.5253G= (p.Lys1751=) c.5268G= (p.Lys1756=) c.5178G= (p.Lys1726=) c.5303G= n.3466G= c.5376G= (p.Lys1792=) n.4197G= n.2634G= n.2605G= n.2495G= c.5037G= (p.Lys1679=) c.*4549G= (n.*4549G=) c.5073G= (p.Lys1691=) n.3105G= c.1564G= n.2497G= c.5436G= (p.Lys1812=) c.5433G= (p.Lys1811=) c.5325G= (p.Lys1775=) c.5304G= (p.Lys1768=) c.4650G= (p.Lys1550=) c.5598G= (p.Lys1866=) c.5346G= (p.Lys1782=) c.4092G= (p.Lys1364=) | |
16 | g.2088568G>T | CA394316003 | TSC2 | c.*3731G>T (n.*3731G>T) c.5229G>T (p.Lys1743Asn) c.5379G>T (p.Lys1793Asn) c.*5895G>T (n.*5895G>T) c.*8131G>T (n.*8131G>T) c.5382G>T (p.Lys1794Asn) c.5313G>T (p.Lys1771Asn) c.5181G>T (p.Lys1727Asn) c.5214G>T (p.Lys1738Asn) c.1605G>T n.3264G>T c.4036G>T c.5241G>T (p.Lys1747Asn) n.979G>T c.5184G>T (p.Lys1728Asn) c.5250G>T (p.Lys1750Asn) c.5175G>T (p.Lys1725Asn) n.3030G>T c.5307G>T (p.Lys1769Asn) c.5253G>T (p.Lys1751Asn) c.5268G>T (p.Lys1756Asn) c.5178G>T (p.Lys1726Asn) c.5303G>T n.3466G>T c.5376G>T (p.Lys1792Asn) n.4197G>T n.2634G>T n.2605G>T n.2495G>T c.5037G>T (p.Lys1679Asn) c.*4549G>T (n.*4549G>T) c.5073G>T (p.Lys1691Asn) n.3105G>T c.1564G>T n.2497G>T c.5436G>T (p.Lys1812Asn) c.5433G>T (p.Lys1811Asn) c.5325G>T (p.Lys1775Asn) c.5304G>T (p.Lys1768Asn) c.4650G>T (p.Lys1550Asn) c.5598G>T (p.Lys1866Asn) c.5346G>T (p.Lys1782Asn) c.4092G>T (p.Lys1364Asn) | |
16 | g.2088569C>A | CA394316006 | TSC2 | c.*3732C>A (n.*3732C>A) c.5230C>A (p.Arg1744Ser) c.5380C>A (p.Arg1794Ser) c.*5896C>A (n.*5896C>A) c.*8132C>A (n.*8132C>A) c.5383C>A (p.Arg1795Ser) c.5314C>A (p.Arg1772Ser) c.5182C>A (p.Arg1728Ser) c.5215C>A (p.Arg1739Ser) c.1606C>A n.3265C>A c.4037C>A c.5242C>A (p.Arg1748Ser) n.980C>A c.5185C>A (p.Arg1729Ser) c.5251C>A (p.Arg1751Ser) c.5176C>A (p.Arg1726Ser) n.3031C>A c.5308C>A (p.Arg1770Ser) c.5254C>A (p.Arg1752Ser) c.5269C>A (p.Arg1757Ser) c.5179C>A (p.Arg1727Ser) c.5304C>A n.3467C>A c.5377C>A (p.Arg1793Ser) n.4198C>A n.2635C>A n.2606C>A n.2496C>A c.5038C>A (p.Arg1680Ser) c.*4550C>A (n.*4550C>A) c.5074C>A (p.Arg1692Ser) n.3106C>A c.1565C>A n.2498C>A c.5437C>A (p.Arg1813Ser) c.5434C>A (p.Arg1812Ser) c.5326C>A (p.Arg1776Ser) c.5305C>A (p.Arg1769Ser) c.4651C>A (p.Arg1551Ser) c.5599C>A (p.Arg1867Ser) c.5347C>A (p.Arg1783Ser) c.4093C>A (p.Arg1365Ser) | ClinVar |
16 | g.2088569C= | CA2202034339 | TSC2 | c.*3732C= (n.*3732C=) c.5230C= (p.Arg1744=) c.5380C= (p.Arg1794=) c.*5896C= (n.*5896C=) c.*8132C= (n.*8132C=) c.5383C= (p.Arg1795=) c.5314C= (p.Arg1772=) c.5182C= (p.Arg1728=) c.5215C= (p.Arg1739=) c.1606C= n.3265C= c.4037C= c.5242C= (p.Arg1748=) n.980C= c.5185C= (p.Arg1729=) c.5251C= (p.Arg1751=) c.5176C= (p.Arg1726=) n.3031C= c.5308C= (p.Arg1770=) c.5254C= (p.Arg1752=) c.5269C= (p.Arg1757=) c.5179C= (p.Arg1727=) c.5304C= n.3467C= c.5377C= (p.Arg1793=) n.4198C= n.2635C= n.2606C= n.2496C= c.5038C= (p.Arg1680=) c.*4550C= (n.*4550C=) c.5074C= (p.Arg1692=) n.3106C= c.1565C= n.2498C= c.5437C= (p.Arg1813=) c.5434C= (p.Arg1812=) c.5326C= (p.Arg1776=) c.5305C= (p.Arg1769=) c.4651C= (p.Arg1551=) c.5599C= (p.Arg1867=) c.5347C= (p.Arg1783=) c.4093C= (p.Arg1365=) | |
16 | g.2088569C>G | CA394316016 | TSC2 | c.*3732C>G (n.*3732C>G) c.5230C>G (p.Arg1744Gly) c.5380C>G (p.Arg1794Gly) c.*5896C>G (n.*5896C>G) c.*8132C>G (n.*8132C>G) c.5383C>G (p.Arg1795Gly) c.5314C>G (p.Arg1772Gly) c.5182C>G (p.Arg1728Gly) c.5215C>G (p.Arg1739Gly) c.1606C>G n.3265C>G c.4037C>G c.5242C>G (p.Arg1748Gly) n.980C>G c.5185C>G (p.Arg1729Gly) c.5251C>G (p.Arg1751Gly) c.5176C>G (p.Arg1726Gly) n.3031C>G c.5308C>G (p.Arg1770Gly) c.5254C>G (p.Arg1752Gly) c.5269C>G (p.Arg1757Gly) c.5179C>G (p.Arg1727Gly) c.5304C>G n.3467C>G c.5377C>G (p.Arg1793Gly) n.4198C>G n.2635C>G n.2606C>G n.2496C>G c.5038C>G (p.Arg1680Gly) c.*4550C>G (n.*4550C>G) c.5074C>G (p.Arg1692Gly) n.3106C>G c.1565C>G n.2498C>G c.5437C>G (p.Arg1813Gly) c.5434C>G (p.Arg1812Gly) c.5326C>G (p.Arg1776Gly) c.5305C>G (p.Arg1769Gly) c.4651C>G (p.Arg1551Gly) c.5599C>G (p.Arg1867Gly) c.5347C>G (p.Arg1783Gly) c.4093C>G (p.Arg1365Gly) | ClinVar dbSNP gnomAD v4 |
16 | g.2088569C>T | CA022447 | TSC2 | c.*3732C>T (n.*3732C>T) c.5230C>T (p.Arg1744Cys) c.5380C>T (p.Arg1794Cys) c.*5896C>T (n.*5896C>T) c.*8132C>T (n.*8132C>T) c.5383C>T (p.Arg1795Cys) c.5314C>T (p.Arg1772Cys) c.5182C>T (p.Arg1728Cys) c.5215C>T (p.Arg1739Cys) c.1606C>T n.3265C>T c.4037C>T c.5242C>T (p.Arg1748Cys) n.980C>T c.5185C>T (p.Arg1729Cys) c.5251C>T (p.Arg1751Cys) c.5176C>T (p.Arg1726Cys) n.3031C>T c.5308C>T (p.Arg1770Cys) c.5254C>T (p.Arg1752Cys) c.5269C>T (p.Arg1757Cys) c.5179C>T (p.Arg1727Cys) c.5304C>T n.3467C>T c.5377C>T (p.Arg1793Cys) n.4198C>T n.2635C>T n.2606C>T n.2496C>T c.5038C>T (p.Arg1680Cys) c.*4550C>T (n.*4550C>T) c.5074C>T (p.Arg1692Cys) n.3106C>T c.1565C>T n.2498C>T c.5437C>T (p.Arg1813Cys) c.5434C>T (p.Arg1812Cys) c.5326C>T (p.Arg1776Cys) c.5305C>T (p.Arg1769Cys) c.4651C>T (p.Arg1551Cys) c.5599C>T (p.Arg1867Cys) c.5347C>T (p.Arg1783Cys) c.4093C>T (p.Arg1365Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088570G>A | CA055272 | TSC2 | c.*3733G>A (n.*3733G>A) c.5231G>A (p.Arg1744His) c.5381G>A (p.Arg1794His) c.*5897G>A (n.*5897G>A) c.*8133G>A (n.*8133G>A) c.5384G>A (p.Arg1795His) c.5315G>A (p.Arg1772His) c.5183G>A (p.Arg1728His) c.5216G>A (p.Arg1739His) c.1607G>A n.3266G>A c.4038G>A c.5243G>A (p.Arg1748His) n.981G>A c.5186G>A (p.Arg1729His) c.5252G>A (p.Arg1751His) c.5177G>A (p.Arg1726His) n.3032G>A c.5309G>A (p.Arg1770His) c.5255G>A (p.Arg1752His) c.5270G>A (p.Arg1757His) c.5180G>A (p.Arg1727His) c.5305G>A n.3468G>A c.5378G>A (p.Arg1793His) n.4199G>A n.2636G>A n.2607G>A n.2497G>A c.5039G>A (p.Arg1680His) c.*4551G>A (n.*4551G>A) c.5075G>A (p.Arg1692His) n.3107G>A c.1566G>A n.2499G>A c.5438G>A (p.Arg1813His) c.5435G>A (p.Arg1812His) c.5327G>A (p.Arg1776His) c.5306G>A (p.Arg1769His) c.4652G>A (p.Arg1551His) c.5600G>A (p.Arg1867His) c.5348G>A (p.Arg1783His) c.4094G>A (p.Arg1365His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088570G>C | CA394316027 | TSC2 | c.*3733G>C (n.*3733G>C) c.5231G>C (p.Arg1744Pro) c.5381G>C (p.Arg1794Pro) c.*5897G>C (n.*5897G>C) c.*8133G>C (n.*8133G>C) c.5384G>C (p.Arg1795Pro) c.5315G>C (p.Arg1772Pro) c.5183G>C (p.Arg1728Pro) c.5216G>C (p.Arg1739Pro) c.1607G>C n.3266G>C c.4038G>C c.5243G>C (p.Arg1748Pro) n.981G>C c.5186G>C (p.Arg1729Pro) c.5252G>C (p.Arg1751Pro) c.5177G>C (p.Arg1726Pro) n.3032G>C c.5309G>C (p.Arg1770Pro) c.5255G>C (p.Arg1752Pro) c.5270G>C (p.Arg1757Pro) c.5180G>C (p.Arg1727Pro) c.5305G>C n.3468G>C c.5378G>C (p.Arg1793Pro) n.4199G>C n.2636G>C n.2607G>C n.2497G>C c.5039G>C (p.Arg1680Pro) c.*4551G>C (n.*4551G>C) c.5075G>C (p.Arg1692Pro) n.3107G>C c.1566G>C n.2499G>C c.5438G>C (p.Arg1813Pro) c.5435G>C (p.Arg1812Pro) c.5327G>C (p.Arg1776Pro) c.5306G>C (p.Arg1769Pro) c.4652G>C (p.Arg1551Pro) c.5600G>C (p.Arg1867Pro) c.5348G>C (p.Arg1783Pro) c.4094G>C (p.Arg1365Pro) | dbSNP gnomAD v4 |
16 | g.2088570G= | CA2202034346 | TSC2 | c.*3733G= (n.*3733G=) c.5231G= (p.Arg1744=) c.5381G= (p.Arg1794=) c.*5897G= (n.*5897G=) c.*8133G= (n.*8133G=) c.5384G= (p.Arg1795=) c.5315G= (p.Arg1772=) c.5183G= (p.Arg1728=) c.5216G= (p.Arg1739=) c.1607G= n.3266G= c.4038G= c.5243G= (p.Arg1748=) n.981G= c.5186G= (p.Arg1729=) c.5252G= (p.Arg1751=) c.5177G= (p.Arg1726=) n.3032G= c.5309G= (p.Arg1770=) c.5255G= (p.Arg1752=) c.5270G= (p.Arg1757=) c.5180G= (p.Arg1727=) c.5305G= n.3468G= c.5378G= (p.Arg1793=) n.4199G= n.2636G= n.2607G= n.2497G= c.5039G= (p.Arg1680=) c.*4551G= (n.*4551G=) c.5075G= (p.Arg1692=) n.3107G= c.1566G= n.2499G= c.5438G= (p.Arg1813=) c.5435G= (p.Arg1812=) c.5327G= (p.Arg1776=) c.5306G= (p.Arg1769=) c.4652G= (p.Arg1551=) c.5600G= (p.Arg1867=) c.5348G= (p.Arg1783=) c.4094G= (p.Arg1365=) | |
16 | g.2088570G>T | CA022452 | TSC2 | c.*3733G>T (n.*3733G>T) c.5231G>T (p.Arg1744Leu) c.5381G>T (p.Arg1794Leu) c.*5897G>T (n.*5897G>T) c.*8133G>T (n.*8133G>T) c.5384G>T (p.Arg1795Leu) c.5315G>T (p.Arg1772Leu) c.5183G>T (p.Arg1728Leu) c.5216G>T (p.Arg1739Leu) c.1607G>T n.3266G>T c.4038G>T c.5243G>T (p.Arg1748Leu) n.981G>T c.5186G>T (p.Arg1729Leu) c.5252G>T (p.Arg1751Leu) c.5177G>T (p.Arg1726Leu) n.3032G>T c.5309G>T (p.Arg1770Leu) c.5255G>T (p.Arg1752Leu) c.5270G>T (p.Arg1757Leu) c.5180G>T (p.Arg1727Leu) c.5305G>T n.3468G>T c.5378G>T (p.Arg1793Leu) n.4199G>T n.2636G>T n.2607G>T n.2497G>T c.5039G>T (p.Arg1680Leu) c.*4551G>T (n.*4551G>T) c.5075G>T (p.Arg1692Leu) n.3107G>T c.1566G>T n.2499G>T c.5438G>T (p.Arg1813Leu) c.5435G>T (p.Arg1812Leu) c.5327G>T (p.Arg1776Leu) c.5306G>T (p.Arg1769Leu) c.4652G>T (p.Arg1551Leu) c.5600G>T (p.Arg1867Leu) c.5348G>T (p.Arg1783Leu) c.4094G>T (p.Arg1365Leu) | ClinVar dbSNP gnomAD v4 |
16 | g.2088571C>A | CA493043784 | TSC2 | c.*3734C>A (n.*3734C>A) c.5232C>A (p.Arg1744=) c.5382C>A (p.Arg1794=) c.*5898C>A (n.*5898C>A) c.*8134C>A (n.*8134C>A) c.5385C>A (p.Arg1795=) c.5316C>A (p.Arg1772=) c.5184C>A (p.Arg1728=) c.5217C>A (p.Arg1739=) c.1608C>A n.3267C>A c.4039C>A c.5244C>A (p.Arg1748=) n.982C>A c.5187C>A (p.Arg1729=) c.5253C>A (p.Arg1751=) c.5178C>A (p.Arg1726=) n.3033C>A c.5310C>A (p.Arg1770=) c.5256C>A (p.Arg1752=) c.5271C>A (p.Arg1757=) c.5181C>A (p.Arg1727=) c.5306C>A n.3469C>A c.5379C>A (p.Arg1793=) n.4200C>A n.2637C>A n.2608C>A n.2498C>A c.5040C>A (p.Arg1680=) c.*4552C>A (n.*4552C>A) c.5076C>A (p.Arg1692=) n.3108C>A c.1567C>A n.2500C>A c.5439C>A (p.Arg1813=) c.5436C>A (p.Arg1812=) c.5328C>A (p.Arg1776=) c.5307C>A (p.Arg1769=) c.4653C>A (p.Arg1551=) c.5601C>A (p.Arg1867=) c.5349C>A (p.Arg1783=) c.4095C>A (p.Arg1365=) | ClinVar |
16 | g.2088571C>G | CA493043788 | TSC2 | c.*3734C>G (n.*3734C>G) c.5232C>G (p.Arg1744=) c.5382C>G (p.Arg1794=) c.*5898C>G (n.*5898C>G) c.*8134C>G (n.*8134C>G) c.5385C>G (p.Arg1795=) c.5316C>G (p.Arg1772=) c.5184C>G (p.Arg1728=) c.5217C>G (p.Arg1739=) c.1608C>G n.3267C>G c.4039C>G c.5244C>G (p.Arg1748=) n.982C>G c.5187C>G (p.Arg1729=) c.5253C>G (p.Arg1751=) c.5178C>G (p.Arg1726=) n.3033C>G c.5310C>G (p.Arg1770=) c.5256C>G (p.Arg1752=) c.5271C>G (p.Arg1757=) c.5181C>G (p.Arg1727=) c.5306C>G n.3469C>G c.5379C>G (p.Arg1793=) n.4200C>G n.2637C>G n.2608C>G n.2498C>G c.5040C>G (p.Arg1680=) c.*4552C>G (n.*4552C>G) c.5076C>G (p.Arg1692=) n.3108C>G c.1567C>G n.2500C>G c.5439C>G (p.Arg1813=) c.5436C>G (p.Arg1812=) c.5328C>G (p.Arg1776=) c.5307C>G (p.Arg1769=) c.4653C>G (p.Arg1551=) c.5601C>G (p.Arg1867=) c.5349C>G (p.Arg1783=) c.4095C>G (p.Arg1365=) | |
16 | g.2088571C>T | CA493043785 | TSC2 | c.*3734C>T (n.*3734C>T) c.5232C>T (p.Arg1744=) c.5382C>T (p.Arg1794=) c.*5898C>T (n.*5898C>T) c.*8134C>T (n.*8134C>T) c.5385C>T (p.Arg1795=) c.5316C>T (p.Arg1772=) c.5184C>T (p.Arg1728=) c.5217C>T (p.Arg1739=) c.1608C>T n.3267C>T c.4039C>T c.5244C>T (p.Arg1748=) n.982C>T c.5187C>T (p.Arg1729=) c.5253C>T (p.Arg1751=) c.5178C>T (p.Arg1726=) n.3033C>T c.5310C>T (p.Arg1770=) c.5256C>T (p.Arg1752=) c.5271C>T (p.Arg1757=) c.5181C>T (p.Arg1727=) c.5306C>T n.3469C>T c.5379C>T (p.Arg1793=) n.4200C>T n.2637C>T n.2608C>T n.2498C>T c.5040C>T (p.Arg1680=) c.*4552C>T (n.*4552C>T) c.5076C>T (p.Arg1692=) n.3108C>T c.1567C>T n.2500C>T c.5439C>T (p.Arg1813=) c.5436C>T (p.Arg1812=) c.5328C>T (p.Arg1776=) c.5307C>T (p.Arg1769=) c.4653C>T (p.Arg1551=) c.5601C>T (p.Arg1867=) c.5349C>T (p.Arg1783=) c.4095C>T (p.Arg1365=) | gnomAD v4 |
16 | g.2088572_2088574del | CA2631119858 | TSC2 | c.*3735_*3737del (n.*3735_*3737del) c.5233_5235del (p.Leu1745del) c.5383_5385del (p.Leu1795del) c.*5899_*5901del (n.*5899_*5901del) c.*8135_*8137del (n.*8135_*8137del) c.5386_5388del (p.Leu1796del) c.5317_5319del (p.Leu1773del) c.5185_5187del (p.Leu1729del) c.5218_5220del (p.Leu1740del) c.1609_1611del n.3268_3270del c.4040_4042del c.5245_5247del (p.Leu1749del) n.983_985del c.5188_5190del (p.Leu1730del) c.5254_5256del (p.Leu1752del) c.5179_5181del (p.Leu1727del) n.3034_3036del c.5311_5313del (p.Leu1771del) c.5257_5259del (p.Leu1753del) c.5272_5274del (p.Leu1758del) c.5182_5184del (p.Leu1728del) c.5307_5309del n.3470_3472del c.5380_5382del (p.Leu1794del) n.4201_4203del n.2638_2640del n.2609_2611del n.2499_2501del c.5041_5043del (p.Leu1681del) c.*4553_*4555del (n.*4553_*4555del) c.5077_5079del (p.Leu1693del) n.3109_3111del c.1568_1570del n.2501_2503del c.5440_5442del (p.Leu1814del) c.5437_5439del (p.Leu1813del) c.5329_5331del (p.Leu1777del) c.5308_5310del (p.Leu1770del) c.4654_4656del (p.Leu1552del) c.5602_5604del (p.Leu1868del) c.5350_5352del (p.Leu1784del) c.4096_4098del (p.Leu1366del) | gnomAD v4 |
16 | g.2088572C>A | CA022457 | TSC2 | c.*3735C>A (n.*3735C>A) c.5233C>A (p.Leu1745Ile) c.5383C>A (p.Leu1795Ile) c.*5899C>A (n.*5899C>A) c.*8135C>A (n.*8135C>A) c.5386C>A (p.Leu1796Ile) c.5317C>A (p.Leu1773Ile) c.5185C>A (p.Leu1729Ile) c.5218C>A (p.Leu1740Ile) c.1609C>A n.3268C>A c.4040C>A c.5245C>A (p.Leu1749Ile) n.983C>A c.5188C>A (p.Leu1730Ile) c.5254C>A (p.Leu1752Ile) c.5179C>A (p.Leu1727Ile) n.3034C>A c.5311C>A (p.Leu1771Ile) c.5257C>A (p.Leu1753Ile) c.5272C>A (p.Leu1758Ile) c.5182C>A (p.Leu1728Ile) c.5307C>A n.3470C>A c.5380C>A (p.Leu1794Ile) n.4201C>A n.2638C>A n.2609C>A n.2499C>A c.5041C>A (p.Leu1681Ile) c.*4553C>A (n.*4553C>A) c.5077C>A (p.Leu1693Ile) n.3109C>A c.1568C>A n.2501C>A c.5440C>A (p.Leu1814Ile) c.5437C>A (p.Leu1813Ile) c.5329C>A (p.Leu1777Ile) c.5308C>A (p.Leu1770Ile) c.4654C>A (p.Leu1552Ile) c.5602C>A (p.Leu1868Ile) c.5350C>A (p.Leu1784Ile) c.4096C>A (p.Leu1366Ile) | ClinVar dbSNP gnomAD v4 |
16 | g.2088572C= | CA2202034354 | TSC2 | c.*3735C= (n.*3735C=) c.5233C= (p.Leu1745=) c.5383C= (p.Leu1795=) c.*5899C= (n.*5899C=) c.*8135C= (n.*8135C=) c.5386C= (p.Leu1796=) c.5317C= (p.Leu1773=) c.5185C= (p.Leu1729=) c.5218C= (p.Leu1740=) c.1609C= n.3268C= c.4040C= c.5245C= (p.Leu1749=) n.983C= c.5188C= (p.Leu1730=) c.5254C= (p.Leu1752=) c.5179C= (p.Leu1727=) n.3034C= c.5311C= (p.Leu1771=) c.5257C= (p.Leu1753=) c.5272C= (p.Leu1758=) c.5182C= (p.Leu1728=) c.5307C= n.3470C= c.5380C= (p.Leu1794=) n.4201C= n.2638C= n.2609C= n.2499C= c.5041C= (p.Leu1681=) c.*4553C= (n.*4553C=) c.5077C= (p.Leu1693=) n.3109C= c.1568C= n.2501C= c.5440C= (p.Leu1814=) c.5437C= (p.Leu1813=) c.5329C= (p.Leu1777=) c.5308C= (p.Leu1770=) c.4654C= (p.Leu1552=) c.5602C= (p.Leu1868=) c.5350C= (p.Leu1784=) c.4096C= (p.Leu1366=) | |
16 | g.2088572C>G | CA394316034 | TSC2 | c.*3735C>G (n.*3735C>G) c.5233C>G (p.Leu1745Val) c.5383C>G (p.Leu1795Val) c.*5899C>G (n.*5899C>G) c.*8135C>G (n.*8135C>G) c.5386C>G (p.Leu1796Val) c.5317C>G (p.Leu1773Val) c.5185C>G (p.Leu1729Val) c.5218C>G (p.Leu1740Val) c.1609C>G n.3268C>G c.4040C>G c.5245C>G (p.Leu1749Val) n.983C>G c.5188C>G (p.Leu1730Val) c.5254C>G (p.Leu1752Val) c.5179C>G (p.Leu1727Val) n.3034C>G c.5311C>G (p.Leu1771Val) c.5257C>G (p.Leu1753Val) c.5272C>G (p.Leu1758Val) c.5182C>G (p.Leu1728Val) c.5307C>G n.3470C>G c.5380C>G (p.Leu1794Val) n.4201C>G n.2638C>G n.2609C>G n.2499C>G c.5041C>G (p.Leu1681Val) c.*4553C>G (n.*4553C>G) c.5077C>G (p.Leu1693Val) n.3109C>G c.1568C>G n.2501C>G c.5440C>G (p.Leu1814Val) c.5437C>G (p.Leu1813Val) c.5329C>G (p.Leu1777Val) c.5308C>G (p.Leu1770Val) c.4654C>G (p.Leu1552Val) c.5602C>G (p.Leu1868Val) c.5350C>G (p.Leu1784Val) c.4096C>G (p.Leu1366Val) | ClinVar dbSNP |
16 | g.2088572C>T | CA394316035 | TSC2 | c.*3735C>T (n.*3735C>T) c.5233C>T (p.Leu1745Phe) c.5383C>T (p.Leu1795Phe) c.*5899C>T (n.*5899C>T) c.*8135C>T (n.*8135C>T) c.5386C>T (p.Leu1796Phe) c.5317C>T (p.Leu1773Phe) c.5185C>T (p.Leu1729Phe) c.5218C>T (p.Leu1740Phe) c.1609C>T n.3268C>T c.4040C>T c.5245C>T (p.Leu1749Phe) n.983C>T c.5188C>T (p.Leu1730Phe) c.5254C>T (p.Leu1752Phe) c.5179C>T (p.Leu1727Phe) n.3034C>T c.5311C>T (p.Leu1771Phe) c.5257C>T (p.Leu1753Phe) c.5272C>T (p.Leu1758Phe) c.5182C>T (p.Leu1728Phe) c.5307C>T n.3470C>T c.5380C>T (p.Leu1794Phe) n.4201C>T n.2638C>T n.2609C>T n.2499C>T c.5041C>T (p.Leu1681Phe) c.*4553C>T (n.*4553C>T) c.5077C>T (p.Leu1693Phe) n.3109C>T c.1568C>T n.2501C>T c.5440C>T (p.Leu1814Phe) c.5437C>T (p.Leu1813Phe) c.5329C>T (p.Leu1777Phe) c.5308C>T (p.Leu1770Phe) c.4654C>T (p.Leu1552Phe) c.5602C>T (p.Leu1868Phe) c.5350C>T (p.Leu1784Phe) c.4096C>T (p.Leu1366Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088573_2088574insTCATCTCCTCGGTGGAGGACT | CA2825002357 | TSC2 | c.*3736_*3737insTCATCTCCTCGGTGGAGGACT (n.*3736_*3737insTCATCTCCTCGGTGGAGGACT) c.5234_5235insTCATCTCCTCGGTGGAGGACT (p.Leu1745_Ile1746insHisLeuLeuGlyGlyGlyLeu) c.5384_5385insTCATCTCCTCGGTGGAGGACT (p.Leu1795_Ile1796insHisLeuLeuGlyGlyGlyLeu) c.*5900_*5901insTCATCTCCTCGGTGGAGGACT (n.*5900_*5901insTCATCTCCTCGGTGGAGGACT) c.*8136_*8137insTCATCTCCTCGGTGGAGGACT (n.*8136_*8137insTCATCTCCTCGGTGGAGGACT) c.5387_5388insTCATCTCCTCGGTGGAGGACT (p.Leu1796_Ile1797insHisLeuLeuGlyGlyGlyLeu) c.5318_5319insTCATCTCCTCGGTGGAGGACT (p.Leu1773_Ile1774insHisLeuLeuGlyGlyGlyLeu) c.5186_5187insTCATCTCCTCGGTGGAGGACT (p.Leu1729_Ile1730insHisLeuLeuGlyGlyGlyLeu) c.5219_5220insTCATCTCCTCGGTGGAGGACT (p.Leu1740_Ile1741insHisLeuLeuGlyGlyGlyLeu) c.1610_1611insTCATCTCCTCGGTGGAGGACT n.3269_3270insTCATCTCCTCGGTGGAGGACT c.4041_4042insTCATCTCCTCGGTGGAGGACT c.5246_5247insTCATCTCCTCGGTGGAGGACT (p.Leu1749_Ile1750insHisLeuLeuGlyGlyGlyLeu) n.984_985insTCATCTCCTCGGTGGAGGACT c.5189_5190insTCATCTCCTCGGTGGAGGACT (p.Leu1730_Ile1731insHisLeuLeuGlyGlyGlyLeu) c.5255_5256insTCATCTCCTCGGTGGAGGACT (p.Leu1752_Ile1753insHisLeuLeuGlyGlyGlyLeu) c.5180_5181insTCATCTCCTCGGTGGAGGACT (p.Leu1727_Ile1728insHisLeuLeuGlyGlyGlyLeu) n.3035_3036insTCATCTCCTCGGTGGAGGACT c.5312_5313insTCATCTCCTCGGTGGAGGACT (p.Leu1771_Ile1772insHisLeuLeuGlyGlyGlyLeu) c.5258_5259insTCATCTCCTCGGTGGAGGACT (p.Leu1753_Ile1754insHisLeuLeuGlyGlyGlyLeu) c.5273_5274insTCATCTCCTCGGTGGAGGACT (p.Leu1758_Ile1759insHisLeuLeuGlyGlyGlyLeu) c.5183_5184insTCATCTCCTCGGTGGAGGACT (p.Leu1728_Ile1729insHisLeuLeuGlyGlyGlyLeu) c.5308_5309insTCATCTCCTCGGTGGAGGACT n.3471_3472insTCATCTCCTCGGTGGAGGACT c.5381_5382insTCATCTCCTCGGTGGAGGACT (p.Leu1794_Ile1795insHisLeuLeuGlyGlyGlyLeu) n.4202_4203insTCATCTCCTCGGTGGAGGACT n.2639_2640insTCATCTCCTCGGTGGAGGACT n.2610_2611insTCATCTCCTCGGTGGAGGACT n.2500_2501insTCATCTCCTCGGTGGAGGACT c.5042_5043insTCATCTCCTCGGTGGAGGACT (p.Leu1681_Ile1682insHisLeuLeuGlyGlyGlyLeu) c.*4554_*4555insTCATCTCCTCGGTGGAGGACT (n.*4554_*4555insTCATCTCCTCGGTGGAGGACT) c.5078_5079insTCATCTCCTCGGTGGAGGACT (p.Leu1693_Ile1694insHisLeuLeuGlyGlyGlyLeu) n.3110_3111insTCATCTCCTCGGTGGAGGACT c.1569_1570insTCATCTCCTCGGTGGAGGACT n.2502_2503insTCATCTCCTCGGTGGAGGACT c.5441_5442insTCATCTCCTCGGTGGAGGACT (p.Leu1814_Ile1815insHisLeuLeuGlyGlyGlyLeu) c.5438_5439insTCATCTCCTCGGTGGAGGACT (p.Leu1813_Ile1814insHisLeuLeuGlyGlyGlyLeu) c.5330_5331insTCATCTCCTCGGTGGAGGACT (p.Leu1777_Ile1778insHisLeuLeuGlyGlyGlyLeu) c.5309_5310insTCATCTCCTCGGTGGAGGACT (p.Leu1770_Ile1771insHisLeuLeuGlyGlyGlyLeu) c.4655_4656insTCATCTCCTCGGTGGAGGACT (p.Leu1552_Ile1553insHisLeuLeuGlyGlyGlyLeu) c.5603_5604insTCATCTCCTCGGTGGAGGACT (p.Leu1868_Ile1869insHisLeuLeuGlyGlyGlyLeu) c.5351_5352insTCATCTCCTCGGTGGAGGACT (p.Leu1784_Ile1785insHisLeuLeuGlyGlyGlyLeu) c.4097_4098insTCATCTCCTCGGTGGAGGACT (p.Leu1366_Ile1367insHisLeuLeuGlyGlyGlyLeu) | ClinVar |
16 | g.2088573T>A | CA394316040 | TSC2 | c.*3736T>A (n.*3736T>A) c.5234T>A (p.Leu1745His) c.5384T>A (p.Leu1795His) c.*5900T>A (n.*5900T>A) c.*8136T>A (n.*8136T>A) c.5387T>A (p.Leu1796His) c.5318T>A (p.Leu1773His) c.5186T>A (p.Leu1729His) c.5219T>A (p.Leu1740His) c.1610T>A n.3269T>A c.4041T>A c.5246T>A (p.Leu1749His) n.984T>A c.5189T>A (p.Leu1730His) c.5255T>A (p.Leu1752His) c.5180T>A (p.Leu1727His) n.3035T>A c.5312T>A (p.Leu1771His) c.5258T>A (p.Leu1753His) c.5273T>A (p.Leu1758His) c.5183T>A (p.Leu1728His) c.5308T>A n.3471T>A c.5381T>A (p.Leu1794His) n.4202T>A n.2639T>A n.2610T>A n.2500T>A c.5042T>A (p.Leu1681His) c.*4554T>A (n.*4554T>A) c.5078T>A (p.Leu1693His) n.3110T>A c.1569T>A n.2502T>A c.5441T>A (p.Leu1814His) c.5438T>A (p.Leu1813His) c.5330T>A (p.Leu1777His) c.5309T>A (p.Leu1770His) c.4655T>A (p.Leu1552His) c.5603T>A (p.Leu1868His) c.5351T>A (p.Leu1784His) c.4097T>A (p.Leu1366His) | |
16 | g.2088573T>C | CA394316041 | TSC2 | c.*3736T>C (n.*3736T>C) c.5234T>C (p.Leu1745Pro) c.5384T>C (p.Leu1795Pro) c.*5900T>C (n.*5900T>C) c.*8136T>C (n.*8136T>C) c.5387T>C (p.Leu1796Pro) c.5318T>C (p.Leu1773Pro) c.5186T>C (p.Leu1729Pro) c.5219T>C (p.Leu1740Pro) c.1610T>C n.3269T>C c.4041T>C c.5246T>C (p.Leu1749Pro) n.984T>C c.5189T>C (p.Leu1730Pro) c.5255T>C (p.Leu1752Pro) c.5180T>C (p.Leu1727Pro) n.3035T>C c.5312T>C (p.Leu1771Pro) c.5258T>C (p.Leu1753Pro) c.5273T>C (p.Leu1758Pro) c.5183T>C (p.Leu1728Pro) c.5308T>C n.3471T>C c.5381T>C (p.Leu1794Pro) n.4202T>C n.2639T>C n.2610T>C n.2500T>C c.5042T>C (p.Leu1681Pro) c.*4554T>C (n.*4554T>C) c.5078T>C (p.Leu1693Pro) n.3110T>C c.1569T>C n.2502T>C c.5441T>C (p.Leu1814Pro) c.5438T>C (p.Leu1813Pro) c.5330T>C (p.Leu1777Pro) c.5309T>C (p.Leu1770Pro) c.4655T>C (p.Leu1552Pro) c.5603T>C (p.Leu1868Pro) c.5351T>C (p.Leu1784Pro) c.4097T>C (p.Leu1366Pro) | |
16 | g.2088573T>G | CA394316042 | TSC2 | c.*3736T>G (n.*3736T>G) c.5234T>G (p.Leu1745Arg) c.5384T>G (p.Leu1795Arg) c.*5900T>G (n.*5900T>G) c.*8136T>G (n.*8136T>G) c.5387T>G (p.Leu1796Arg) c.5318T>G (p.Leu1773Arg) c.5186T>G (p.Leu1729Arg) c.5219T>G (p.Leu1740Arg) c.1610T>G n.3269T>G c.4041T>G c.5246T>G (p.Leu1749Arg) n.984T>G c.5189T>G (p.Leu1730Arg) c.5255T>G (p.Leu1752Arg) c.5180T>G (p.Leu1727Arg) n.3035T>G c.5312T>G (p.Leu1771Arg) c.5258T>G (p.Leu1753Arg) c.5273T>G (p.Leu1758Arg) c.5183T>G (p.Leu1728Arg) c.5308T>G n.3471T>G c.5381T>G (p.Leu1794Arg) n.4202T>G n.2639T>G n.2610T>G n.2500T>G c.5042T>G (p.Leu1681Arg) c.*4554T>G (n.*4554T>G) c.5078T>G (p.Leu1693Arg) n.3110T>G c.1569T>G n.2502T>G c.5441T>G (p.Leu1814Arg) c.5438T>G (p.Leu1813Arg) c.5330T>G (p.Leu1777Arg) c.5309T>G (p.Leu1770Arg) c.4655T>G (p.Leu1552Arg) c.5603T>G (p.Leu1868Arg) c.5351T>G (p.Leu1784Arg) c.4097T>G (p.Leu1366Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088573T= | CA2202034359 | TSC2 | c.*3736T= (n.*3736T=) c.5234T= (p.Leu1745=) c.5384T= (p.Leu1795=) c.*5900T= (n.*5900T=) c.*8136T= (n.*8136T=) c.5387T= (p.Leu1796=) c.5318T= (p.Leu1773=) c.5186T= (p.Leu1729=) c.5219T= (p.Leu1740=) c.1610T= n.3269T= c.4041T= c.5246T= (p.Leu1749=) n.984T= c.5189T= (p.Leu1730=) c.5255T= (p.Leu1752=) c.5180T= (p.Leu1727=) n.3035T= c.5312T= (p.Leu1771=) c.5258T= (p.Leu1753=) c.5273T= (p.Leu1758=) c.5183T= (p.Leu1728=) c.5308T= n.3471T= c.5381T= (p.Leu1794=) n.4202T= n.2639T= n.2610T= n.2500T= c.5042T= (p.Leu1681=) c.*4554T= (n.*4554T=) c.5078T= (p.Leu1693=) n.3110T= c.1569T= n.2502T= c.5441T= (p.Leu1814=) c.5438T= (p.Leu1813=) c.5330T= (p.Leu1777=) c.5309T= (p.Leu1770=) c.4655T= (p.Leu1552=) c.5603T= (p.Leu1868=) c.5351T= (p.Leu1784=) c.4097T= (p.Leu1366=) | |
16 | g.2088575_2088577dup | CA2580091208 | TSC2 | c.*3738_*3740dup (n.*3738_*3740dup) c.5236_5238dup (p.Ile1746_Ser1747insIle) c.5386_5388dup (p.Ile1796_Ser1797insIle) c.*5902_*5904dup (n.*5902_*5904dup) c.*8138_*8140dup (n.*8138_*8140dup) c.5389_5391dup (p.Ile1797_Ser1798insIle) c.5320_5322dup (p.Ile1774_Ser1775insIle) c.5188_5190dup (p.Ile1730_Ser1731insIle) c.5221_5223dup (p.Ile1741_Ser1742insIle) c.1612_1614dup n.3271_3273dup c.4043_4045dup c.5248_5250dup (p.Ile1750_Ser1751insIle) n.986_988dup c.5191_5193dup (p.Ile1731_Ser1732insIle) c.5257_5259dup (p.Ile1753_Ser1754insIle) c.5182_5184dup (p.Ile1728_Ser1729insIle) n.3037_3039dup c.5314_5316dup (p.Ile1772_Ser1773insIle) c.5260_5262dup (p.Ile1754_Ser1755insIle) c.5275_5277dup (p.Ile1759_Ser1760insIle) c.5185_5187dup (p.Ile1729_Ser1730insIle) c.5310_5312dup c.5383_5385dup (p.Ile1795_Ser1796insIle) n.4204_4206dup n.2641_2643dup n.2612_2614dup n.2502_2504dup c.5044_5046dup (p.Ile1682_Ser1683insIle) c.*4556_*4558dup (n.*4556_*4558dup) c.5080_5082dup (p.Ile1694_Ser1695insIle) n.3112_3114dup c.1571_1573dup n.2504_2506dup c.5443_5445dup (p.Ile1815_Ser1816insIle) c.5440_5442dup (p.Ile1814_Ser1815insIle) c.5332_5334dup (p.Ile1778_Ser1779insIle) c.5311_5313dup (p.Ile1771_Ser1772insIle) c.4657_4659dup (p.Ile1553_Ser1554insIle) c.5605_5607dup (p.Ile1869_Ser1870insIle) c.5353_5355dup (p.Ile1785_Ser1786insIle) c.4099_4101dup (p.Ile1367_Ser1368insIle) | ClinVar |
16 | g.2088574C>A | CA493043797 | TSC2 | c.*3737C>A (n.*3737C>A) c.5235C>A (p.Leu1745=) c.5385C>A (p.Leu1795=) c.*5901C>A (n.*5901C>A) c.*8137C>A (n.*8137C>A) c.5388C>A (p.Leu1796=) c.5319C>A (p.Leu1773=) c.5187C>A (p.Leu1729=) c.5220C>A (p.Leu1740=) c.1611C>A n.3270C>A c.4042C>A c.5247C>A (p.Leu1749=) n.985C>A c.5190C>A (p.Leu1730=) c.5256C>A (p.Leu1752=) c.5181C>A (p.Leu1727=) n.3036C>A c.5313C>A (p.Leu1771=) c.5259C>A (p.Leu1753=) c.5274C>A (p.Leu1758=) c.5184C>A (p.Leu1728=) c.5309C>A n.3472C>A c.5382C>A (p.Leu1794=) n.4203C>A n.2640C>A n.2611C>A n.2501C>A c.5043C>A (p.Leu1681=) c.*4555C>A (n.*4555C>A) c.5079C>A (p.Leu1693=) n.3111C>A c.1570C>A n.2503C>A c.5442C>A (p.Leu1814=) c.5439C>A (p.Leu1813=) c.5331C>A (p.Leu1777=) c.5310C>A (p.Leu1770=) c.4656C>A (p.Leu1552=) c.5604C>A (p.Leu1868=) c.5352C>A (p.Leu1784=) c.4098C>A (p.Leu1366=) | |
16 | g.2088574C= | CA2202034366 | TSC2 | c.*3737C= (n.*3737C=) c.5235C= (p.Leu1745=) c.5385C= (p.Leu1795=) c.*5901C= (n.*5901C=) c.*8137C= (n.*8137C=) c.5388C= (p.Leu1796=) c.5319C= (p.Leu1773=) c.5187C= (p.Leu1729=) c.5220C= (p.Leu1740=) c.1611C= n.3270C= c.4042C= c.5247C= (p.Leu1749=) n.985C= c.5190C= (p.Leu1730=) c.5256C= (p.Leu1752=) c.5181C= (p.Leu1727=) n.3036C= c.5313C= (p.Leu1771=) c.5259C= (p.Leu1753=) c.5274C= (p.Leu1758=) c.5184C= (p.Leu1728=) c.5309C= n.3472C= c.5382C= (p.Leu1794=) n.4203C= n.2640C= n.2611C= n.2501C= c.5043C= (p.Leu1681=) c.*4555C= (n.*4555C=) c.5079C= (p.Leu1693=) n.3111C= c.1570C= n.2503C= c.5442C= (p.Leu1814=) c.5439C= (p.Leu1813=) c.5331C= (p.Leu1777=) c.5310C= (p.Leu1770=) c.4656C= (p.Leu1552=) c.5604C= (p.Leu1868=) c.5352C= (p.Leu1784=) c.4098C= (p.Leu1366=) | |
16 | g.2088574C>G | CA493043796 | TSC2 | c.*3737C>G (n.*3737C>G) c.5235C>G (p.Leu1745=) c.5385C>G (p.Leu1795=) c.*5901C>G (n.*5901C>G) c.*8137C>G (n.*8137C>G) c.5388C>G (p.Leu1796=) c.5319C>G (p.Leu1773=) c.5187C>G (p.Leu1729=) c.5220C>G (p.Leu1740=) c.1611C>G n.3270C>G c.4042C>G c.5247C>G (p.Leu1749=) n.985C>G c.5190C>G (p.Leu1730=) c.5256C>G (p.Leu1752=) c.5181C>G (p.Leu1727=) n.3036C>G c.5313C>G (p.Leu1771=) c.5259C>G (p.Leu1753=) c.5274C>G (p.Leu1758=) c.5184C>G (p.Leu1728=) c.5309C>G n.3472C>G c.5382C>G (p.Leu1794=) n.4203C>G n.2640C>G n.2611C>G n.2501C>G c.5043C>G (p.Leu1681=) c.*4555C>G (n.*4555C>G) c.5079C>G (p.Leu1693=) n.3111C>G c.1570C>G n.2503C>G c.5442C>G (p.Leu1814=) c.5439C>G (p.Leu1813=) c.5331C>G (p.Leu1777=) c.5310C>G (p.Leu1770=) c.4656C>G (p.Leu1552=) c.5604C>G (p.Leu1868=) c.5352C>G (p.Leu1784=) c.4098C>G (p.Leu1366=) | gnomAD v4 COSMIC COSMIC |
16 | g.2088574C>T | CA493043795 | TSC2 | c.*3737C>T (n.*3737C>T) c.5235C>T (p.Leu1745=) c.5385C>T (p.Leu1795=) c.*5901C>T (n.*5901C>T) c.*8137C>T (n.*8137C>T) c.5388C>T (p.Leu1796=) c.5319C>T (p.Leu1773=) c.5187C>T (p.Leu1729=) c.5220C>T (p.Leu1740=) c.1611C>T n.3270C>T c.4042C>T c.5247C>T (p.Leu1749=) n.985C>T c.5190C>T (p.Leu1730=) c.5256C>T (p.Leu1752=) c.5181C>T (p.Leu1727=) n.3036C>T c.5313C>T (p.Leu1771=) c.5259C>T (p.Leu1753=) c.5274C>T (p.Leu1758=) c.5184C>T (p.Leu1728=) c.5309C>T n.3472C>T c.5382C>T (p.Leu1794=) n.4203C>T n.2640C>T n.2611C>T n.2501C>T c.5043C>T (p.Leu1681=) c.*4555C>T (n.*4555C>T) c.5079C>T (p.Leu1693=) n.3111C>T c.1570C>T n.2503C>T c.5442C>T (p.Leu1814=) c.5439C>T (p.Leu1813=) c.5331C>T (p.Leu1777=) c.5310C>T (p.Leu1770=) c.4656C>T (p.Leu1552=) c.5604C>T (p.Leu1868=) c.5352C>T (p.Leu1784=) c.4098C>T (p.Leu1366=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088574dup | CA022461 | TSC2 | c.*3737dup (n.*3737dup) c.5235dup (p.Ile1746HisfsTer?) c.5385dup (p.Ile1796HisfsTer?) c.*5901dup (n.*5901dup) c.*8137dup (n.*8137dup) c.5388dup (p.Ile1797HisfsTer?) c.5319dup (p.Ile1774HisfsTer?) c.5187dup (p.Ile1730HisfsTer?) c.5220dup (p.Ile1741HisfsTer?) c.1611dup n.3270dup c.4042dup c.5247dup (p.Ile1750HisfsTer?) n.985dup c.5190dup (p.Ile1731HisfsTer?) c.5256dup (p.Ile1753HisfsTer?) c.5181dup (p.Ile1728HisfsTer?) n.3036dup c.5313dup (p.Ile1772HisfsTer?) c.5259dup (p.Ile1754HisfsTer?) c.5274dup (p.Ile1759HisfsTer?) c.5184dup (p.Ile1729HisfsTer?) c.5309dup n.3472dup c.5382dup (p.Ile1795HisfsTer?) n.4203dup n.2640dup n.2611dup n.2501dup c.5043dup (p.Ile1682HisfsTer?) c.*4555dup (n.*4555dup) c.5079dup (p.Ile1694HisfsTer?) n.3111dup c.1570dup n.2503dup c.5442dup (p.Ile1815HisfsTer?) c.5439dup (p.Ile1814HisfsTer?) c.5331dup (p.Ile1778HisfsTer?) c.5310dup (p.Ile1771HisfsTer?) c.4656dup (p.Ile1553HisfsTer?) c.5604dup (p.Ile1869HisfsTer?) c.5352dup (p.Ile1785HisfsTer?) c.4098dup (p.Ile1367HisfsTer?) | ClinVar dbSNP |
16 | g.2088575A= | CA2202034375 | TSC2 | c.*3738A= (n.*3738A=) c.5236A= (p.Ile1746=) c.5386A= (p.Ile1796=) c.*5902A= (n.*5902A=) c.*8138A= (n.*8138A=) c.5389A= (p.Ile1797=) c.5320A= (p.Ile1774=) c.5188A= (p.Ile1730=) c.5221A= (p.Ile1741=) c.1612A= n.3271A= c.4043A= c.5248A= (p.Ile1750=) n.986A= c.5191A= (p.Ile1731=) c.5257A= (p.Ile1753=) c.5182A= (p.Ile1728=) n.3037A= c.5314A= (p.Ile1772=) c.5260A= (p.Ile1754=) c.5275A= (p.Ile1759=) c.5185A= (p.Ile1729=) c.5310A= n.3473A= c.5383A= (p.Ile1795=) n.4204A= n.2641A= n.2612A= n.2502A= c.5044A= (p.Ile1682=) c.*4556A= (n.*4556A=) c.5080A= (p.Ile1694=) n.3112A= c.1571A= n.2504A= c.5443A= (p.Ile1815=) c.5440A= (p.Ile1814=) c.5332A= (p.Ile1778=) c.5311A= (p.Ile1771=) c.4657A= (p.Ile1553=) c.5605A= (p.Ile1869=) c.5353A= (p.Ile1785=) c.4099A= (p.Ile1367=) | |
16 | g.2088575A>C | CA319402 | TSC2 | c.*3738A>C (n.*3738A>C) c.5236A>C (p.Ile1746Leu) c.5386A>C (p.Ile1796Leu) c.*5902A>C (n.*5902A>C) c.*8138A>C (n.*8138A>C) c.5389A>C (p.Ile1797Leu) c.5320A>C (p.Ile1774Leu) c.5188A>C (p.Ile1730Leu) c.5221A>C (p.Ile1741Leu) c.1612A>C n.3271A>C c.4043A>C c.5248A>C (p.Ile1750Leu) n.986A>C c.5191A>C (p.Ile1731Leu) c.5257A>C (p.Ile1753Leu) c.5182A>C (p.Ile1728Leu) n.3037A>C c.5314A>C (p.Ile1772Leu) c.5260A>C (p.Ile1754Leu) c.5275A>C (p.Ile1759Leu) c.5185A>C (p.Ile1729Leu) c.5310A>C n.3473A>C c.5383A>C (p.Ile1795Leu) n.4204A>C n.2641A>C n.2612A>C n.2502A>C c.5044A>C (p.Ile1682Leu) c.*4556A>C (n.*4556A>C) c.5080A>C (p.Ile1694Leu) n.3112A>C c.1571A>C n.2504A>C c.5443A>C (p.Ile1815Leu) c.5440A>C (p.Ile1814Leu) c.5332A>C (p.Ile1778Leu) c.5311A>C (p.Ile1771Leu) c.4657A>C (p.Ile1553Leu) c.5605A>C (p.Ile1869Leu) c.5353A>C (p.Ile1785Leu) c.4099A>C (p.Ile1367Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.2088575A>G | CA394316067 | TSC2 | c.*3738A>G (n.*3738A>G) c.5236A>G (p.Ile1746Val) c.5386A>G (p.Ile1796Val) c.*5902A>G (n.*5902A>G) c.*8138A>G (n.*8138A>G) c.5389A>G (p.Ile1797Val) c.5320A>G (p.Ile1774Val) c.5188A>G (p.Ile1730Val) c.5221A>G (p.Ile1741Val) c.1612A>G n.3271A>G c.4043A>G c.5248A>G (p.Ile1750Val) n.986A>G c.5191A>G (p.Ile1731Val) c.5257A>G (p.Ile1753Val) c.5182A>G (p.Ile1728Val) n.3037A>G c.5314A>G (p.Ile1772Val) c.5260A>G (p.Ile1754Val) c.5275A>G (p.Ile1759Val) c.5185A>G (p.Ile1729Val) c.5310A>G n.3473A>G c.5383A>G (p.Ile1795Val) n.4204A>G n.2641A>G n.2612A>G n.2502A>G c.5044A>G (p.Ile1682Val) c.*4556A>G (n.*4556A>G) c.5080A>G (p.Ile1694Val) n.3112A>G c.1571A>G n.2504A>G c.5443A>G (p.Ile1815Val) c.5440A>G (p.Ile1814Val) c.5332A>G (p.Ile1778Val) c.5311A>G (p.Ile1771Val) c.4657A>G (p.Ile1553Val) c.5605A>G (p.Ile1869Val) c.5353A>G (p.Ile1785Val) c.4099A>G (p.Ile1367Val) | gnomAD v4 |
16 | g.2088575A>T | CA394316052 | TSC2 | c.*3738A>T (n.*3738A>T) c.5236A>T (p.Ile1746Phe) c.5386A>T (p.Ile1796Phe) c.*5902A>T (n.*5902A>T) c.*8138A>T (n.*8138A>T) c.5389A>T (p.Ile1797Phe) c.5320A>T (p.Ile1774Phe) c.5188A>T (p.Ile1730Phe) c.5221A>T (p.Ile1741Phe) c.1612A>T n.3271A>T c.4043A>T c.5248A>T (p.Ile1750Phe) n.986A>T c.5191A>T (p.Ile1731Phe) c.5257A>T (p.Ile1753Phe) c.5182A>T (p.Ile1728Phe) n.3037A>T c.5314A>T (p.Ile1772Phe) c.5260A>T (p.Ile1754Phe) c.5275A>T (p.Ile1759Phe) c.5185A>T (p.Ile1729Phe) c.5310A>T n.3473A>T c.5383A>T (p.Ile1795Phe) n.4204A>T n.2641A>T n.2612A>T n.2502A>T c.5044A>T (p.Ile1682Phe) c.*4556A>T (n.*4556A>T) c.5080A>T (p.Ile1694Phe) n.3112A>T c.1571A>T n.2504A>T c.5443A>T (p.Ile1815Phe) c.5440A>T (p.Ile1814Phe) c.5332A>T (p.Ile1778Phe) c.5311A>T (p.Ile1771Phe) c.4657A>T (p.Ile1553Phe) c.5605A>T (p.Ile1869Phe) c.5353A>T (p.Ile1785Phe) c.4099A>T (p.Ile1367Phe) | |
16 | g.2088575_2088578dup | CA645294082 | TSC2 | c.*3738_*3741dup (n.*3738_*3741dup) c.5236_5239dup (p.Ser1747TyrfsTer?) c.5386_5389dup (p.Ser1797TyrfsTer?) c.*5902_*5905dup (n.*5902_*5905dup) c.*8138_*8141dup (n.*8138_*8141dup) c.5389_5392dup (p.Ser1798TyrfsTer?) c.5320_5323dup (p.Ser1775TyrfsTer?) c.5188_5191dup (p.Ser1731TyrfsTer?) c.5221_5224dup (p.Ser1742TyrfsTer?) c.1612_1615dup n.3271_3274dup c.4043_4046dup c.5248_5251dup (p.Ser1751TyrfsTer?) n.986_989dup c.5191_5194dup (p.Ser1732TyrfsTer?) c.5257_5260dup (p.Ser1754TyrfsTer?) c.5182_5185dup (p.Ser1729TyrfsTer?) n.3037_3040dup c.5314_5317dup (p.Ser1773TyrfsTer?) c.5260_5263dup (p.Ser1755TyrfsTer?) c.5275_5278dup (p.Ser1760TyrfsTer?) c.5185_5188dup (p.Ser1730TyrfsTer?) c.5310_5313dup c.5383_5386dup (p.Ser1796TyrfsTer?) n.4204_4207dup n.2641_2644dup n.2612_2615dup n.2502_2505dup c.5044_5047dup (p.Ser1683TyrfsTer?) c.*4556_*4559dup (n.*4556_*4559dup) c.5080_5083dup (p.Ser1695TyrfsTer?) n.3112_3115dup c.1571_1574dup n.2504_2507dup c.5443_5446dup (p.Ser1816TyrfsTer?) c.5440_5443dup (p.Ser1815TyrfsTer?) c.5332_5335dup (p.Ser1779TyrfsTer?) c.5311_5314dup (p.Ser1772TyrfsTer?) c.4657_4660dup (p.Ser1554TyrfsTer?) c.5605_5608dup (p.Ser1870TyrfsTer?) c.5353_5356dup (p.Ser1786TyrfsTer?) c.4099_4102dup (p.Ser1368TyrfsTer?) | ClinVar dbSNP |
16 | g.2088576T>A | CA394316071 | TSC2 | c.*3739T>A (n.*3739T>A) c.5237T>A (p.Ile1746Asn) c.5387T>A (p.Ile1796Asn) c.*5903T>A (n.*5903T>A) c.*8139T>A (n.*8139T>A) c.5390T>A (p.Ile1797Asn) c.5321T>A (p.Ile1774Asn) c.5189T>A (p.Ile1730Asn) c.5222T>A (p.Ile1741Asn) c.1613T>A n.3272T>A c.4044T>A c.5249T>A (p.Ile1750Asn) n.987T>A c.5192T>A (p.Ile1731Asn) c.5258T>A (p.Ile1753Asn) c.5183T>A (p.Ile1728Asn) n.3038T>A c.5315T>A (p.Ile1772Asn) c.5261T>A (p.Ile1754Asn) c.5276T>A (p.Ile1759Asn) c.5186T>A (p.Ile1729Asn) c.5311T>A n.3474T>A c.5384T>A (p.Ile1795Asn) n.4205T>A n.2642T>A n.2613T>A n.2503T>A c.5045T>A (p.Ile1682Asn) c.*4557T>A (n.*4557T>A) c.5081T>A (p.Ile1694Asn) n.3113T>A c.1572T>A n.2505T>A c.5444T>A (p.Ile1815Asn) c.5441T>A (p.Ile1814Asn) c.5333T>A (p.Ile1778Asn) c.5312T>A (p.Ile1771Asn) c.4658T>A (p.Ile1553Asn) c.5606T>A (p.Ile1869Asn) c.5354T>A (p.Ile1785Asn) c.4100T>A (p.Ile1367Asn) | |
16 | g.2088576T>C | CA394316073 | TSC2 | c.*3739T>C (n.*3739T>C) c.5237T>C (p.Ile1746Thr) c.5387T>C (p.Ile1796Thr) c.*5903T>C (n.*5903T>C) c.*8139T>C (n.*8139T>C) c.5390T>C (p.Ile1797Thr) c.5321T>C (p.Ile1774Thr) c.5189T>C (p.Ile1730Thr) c.5222T>C (p.Ile1741Thr) c.1613T>C n.3272T>C c.4044T>C c.5249T>C (p.Ile1750Thr) n.987T>C c.5192T>C (p.Ile1731Thr) c.5258T>C (p.Ile1753Thr) c.5183T>C (p.Ile1728Thr) n.3038T>C c.5315T>C (p.Ile1772Thr) c.5261T>C (p.Ile1754Thr) c.5276T>C (p.Ile1759Thr) c.5186T>C (p.Ile1729Thr) c.5311T>C n.3474T>C c.5384T>C (p.Ile1795Thr) n.4205T>C n.2642T>C n.2613T>C n.2503T>C c.5045T>C (p.Ile1682Thr) c.*4557T>C (n.*4557T>C) c.5081T>C (p.Ile1694Thr) n.3113T>C c.1572T>C n.2505T>C c.5444T>C (p.Ile1815Thr) c.5441T>C (p.Ile1814Thr) c.5333T>C (p.Ile1778Thr) c.5312T>C (p.Ile1771Thr) c.4658T>C (p.Ile1553Thr) c.5606T>C (p.Ile1869Thr) c.5354T>C (p.Ile1785Thr) c.4100T>C (p.Ile1367Thr) | ClinVar dbSNP |
16 | g.2088576T>G | CA394316074 | TSC2 | c.*3739T>G (n.*3739T>G) c.5237T>G (p.Ile1746Ser) c.5387T>G (p.Ile1796Ser) c.*5903T>G (n.*5903T>G) c.*8139T>G (n.*8139T>G) c.5390T>G (p.Ile1797Ser) c.5321T>G (p.Ile1774Ser) c.5189T>G (p.Ile1730Ser) c.5222T>G (p.Ile1741Ser) c.1613T>G n.3272T>G c.4044T>G c.5249T>G (p.Ile1750Ser) n.987T>G c.5192T>G (p.Ile1731Ser) c.5258T>G (p.Ile1753Ser) c.5183T>G (p.Ile1728Ser) n.3038T>G c.5315T>G (p.Ile1772Ser) c.5261T>G (p.Ile1754Ser) c.5276T>G (p.Ile1759Ser) c.5186T>G (p.Ile1729Ser) c.5311T>G n.3474T>G c.5384T>G (p.Ile1795Ser) n.4205T>G n.2642T>G n.2613T>G n.2503T>G c.5045T>G (p.Ile1682Ser) c.*4557T>G (n.*4557T>G) c.5081T>G (p.Ile1694Ser) n.3113T>G c.1572T>G n.2505T>G c.5444T>G (p.Ile1815Ser) c.5441T>G (p.Ile1814Ser) c.5333T>G (p.Ile1778Ser) c.5312T>G (p.Ile1771Ser) c.4658T>G (p.Ile1553Ser) c.5606T>G (p.Ile1869Ser) c.5354T>G (p.Ile1785Ser) c.4100T>G (p.Ile1367Ser) | ClinVar |
16 | g.2088576_2088579delinsTCTC | CA2202034387 | TSC2 | c.*3739_*3742delinsTCTC (n.*3739_*3742delinsTCTC) c.5237_5240delinsTCTC (p.Ile1746=) c.5387_5390delinsTCTC (p.Ile1796=) c.*5903_*5906delinsTCTC (n.*5903_*5906delinsTCTC) c.*8139_*8142delinsTCTC (n.*8139_*8142delinsTCTC) c.5390_5393delinsTCTC (p.Ile1797=) c.5321_5324delinsTCTC (p.Ile1774=) c.5189_5192delinsTCTC (p.Ile1730=) c.5222_5225delinsTCTC (p.Ile1741=) c.1613_1616delinsTCTC n.3272_3275delinsTCTC c.4044_4047delinsTCTC c.5249_5252delinsTCTC (p.Ile1750=) n.987_990delinsTCTC c.5192_5195delinsTCTC (p.Ile1731=) c.5258_5261delinsTCTC (p.Ile1753=) c.5183_5186delinsTCTC (p.Ile1728=) n.3038_3041delinsTCTC c.5315_5318delinsTCTC (p.Ile1772=) c.5261_5264delinsTCTC (p.Ile1754=) c.5276_5279delinsTCTC (p.Ile1759=) c.5186_5189delinsTCTC (p.Ile1729=) c.5311_5314delinsTCTC c.5384_5387delinsTCTC (p.Ile1795=) n.4205_4208delinsTCTC n.2642_2645delinsTCTC n.2613_2616delinsTCTC n.2503_2506delinsTCTC c.5045_5048delinsTCTC (p.Ile1682=) c.*4557_*4560delinsTCTC (n.*4557_*4560delinsTCTC) c.5081_5084delinsTCTC (p.Ile1694=) n.3113_3116delinsTCTC c.1572_1575delinsTCTC n.2505_2508delinsTCTC c.5444_5447delinsTCTC (p.Ile1815=) c.5441_5444delinsTCTC (p.Ile1814=) c.5333_5336delinsTCTC (p.Ile1778=) c.5312_5315delinsTCTC (p.Ile1771=) c.4658_4661delinsTCTC (p.Ile1553=) c.5606_5609delinsTCTC (p.Ile1869=) c.5354_5357delinsTCTC (p.Ile1785=) c.4100_4103delinsTCTC (p.Ile1367=) | |
16 | g.2088577C>A | CA493043804 | TSC2 | c.*3740C>A (n.*3740C>A) c.5238C>A (p.Ile1746=) c.5388C>A (p.Ile1796=) c.*5904C>A (n.*5904C>A) c.*8140C>A (n.*8140C>A) c.5391C>A (p.Ile1797=) c.5322C>A (p.Ile1774=) c.5190C>A (p.Ile1730=) c.5223C>A (p.Ile1741=) c.1614C>A n.3273C>A c.4045C>A c.5250C>A (p.Ile1750=) n.988C>A c.5193C>A (p.Ile1731=) c.5259C>A (p.Ile1753=) c.5184C>A (p.Ile1728=) n.3039C>A c.5316C>A (p.Ile1772=) c.5262C>A (p.Ile1754=) c.5277C>A (p.Ile1759=) c.5187C>A (p.Ile1729=) c.5312C>A n.3475C>A c.5385C>A (p.Ile1795=) n.4206C>A n.2643C>A n.2614C>A n.2504C>A c.5046C>A (p.Ile1682=) c.*4558C>A (n.*4558C>A) c.5082C>A (p.Ile1694=) n.3114C>A c.1573C>A n.2506C>A c.5445C>A (p.Ile1815=) c.5442C>A (p.Ile1814=) c.5334C>A (p.Ile1778=) c.5313C>A (p.Ile1771=) c.4659C>A (p.Ile1553=) c.5607C>A (p.Ile1869=) c.5355C>A (p.Ile1785=) c.4101C>A (p.Ile1367=) | dbSNP gnomAD v4 |
16 | g.2088577C= | CA2202034402 | TSC2 | c.*3740C= (n.*3740C=) c.5238C= (p.Ile1746=) c.5388C= (p.Ile1796=) c.*5904C= (n.*5904C=) c.*8140C= (n.*8140C=) c.5391C= (p.Ile1797=) c.5322C= (p.Ile1774=) c.5190C= (p.Ile1730=) c.5223C= (p.Ile1741=) c.1614C= n.3273C= c.4045C= c.5250C= (p.Ile1750=) n.988C= c.5193C= (p.Ile1731=) c.5259C= (p.Ile1753=) c.5184C= (p.Ile1728=) n.3039C= c.5316C= (p.Ile1772=) c.5262C= (p.Ile1754=) c.5277C= (p.Ile1759=) c.5187C= (p.Ile1729=) c.5312C= n.3475C= c.5385C= (p.Ile1795=) n.4206C= n.2643C= n.2614C= n.2504C= c.5046C= (p.Ile1682=) c.*4558C= (n.*4558C=) c.5082C= (p.Ile1694=) n.3114C= c.1573C= n.2506C= c.5445C= (p.Ile1815=) c.5442C= (p.Ile1814=) c.5334C= (p.Ile1778=) c.5313C= (p.Ile1771=) c.4659C= (p.Ile1553=) c.5607C= (p.Ile1869=) c.5355C= (p.Ile1785=) c.4101C= (p.Ile1367=) | |
16 | g.2088577C>G | CA055292 | TSC2 | c.*3740C>G (n.*3740C>G) c.5238C>G (p.Ile1746Met) c.5388C>G (p.Ile1796Met) c.*5904C>G (n.*5904C>G) c.*8140C>G (n.*8140C>G) c.5391C>G (p.Ile1797Met) c.5322C>G (p.Ile1774Met) c.5190C>G (p.Ile1730Met) c.5223C>G (p.Ile1741Met) c.1614C>G n.3273C>G c.4045C>G c.5250C>G (p.Ile1750Met) n.988C>G c.5193C>G (p.Ile1731Met) c.5259C>G (p.Ile1753Met) c.5184C>G (p.Ile1728Met) n.3039C>G c.5316C>G (p.Ile1772Met) c.5262C>G (p.Ile1754Met) c.5277C>G (p.Ile1759Met) c.5187C>G (p.Ile1729Met) c.5312C>G n.3475C>G c.5385C>G (p.Ile1795Met) n.4206C>G n.2643C>G n.2614C>G n.2504C>G c.5046C>G (p.Ile1682Met) c.*4558C>G (n.*4558C>G) c.5082C>G (p.Ile1694Met) n.3114C>G c.1573C>G n.2506C>G c.5445C>G (p.Ile1815Met) c.5442C>G (p.Ile1814Met) c.5334C>G (p.Ile1778Met) c.5313C>G (p.Ile1771Met) c.4659C>G (p.Ile1553Met) c.5607C>G (p.Ile1869Met) c.5355C>G (p.Ile1785Met) c.4101C>G (p.Ile1367Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088577C>T | CA493043808 | TSC2 | c.*3740C>T (n.*3740C>T) c.5238C>T (p.Ile1746=) c.5388C>T (p.Ile1796=) c.*5904C>T (n.*5904C>T) c.*8140C>T (n.*8140C>T) c.5391C>T (p.Ile1797=) c.5322C>T (p.Ile1774=) c.5190C>T (p.Ile1730=) c.5223C>T (p.Ile1741=) c.1614C>T n.3273C>T c.4045C>T c.5250C>T (p.Ile1750=) n.988C>T c.5193C>T (p.Ile1731=) c.5259C>T (p.Ile1753=) c.5184C>T (p.Ile1728=) n.3039C>T c.5316C>T (p.Ile1772=) c.5262C>T (p.Ile1754=) c.5277C>T (p.Ile1759=) c.5187C>T (p.Ile1729=) c.5312C>T n.3475C>T c.5385C>T (p.Ile1795=) n.4206C>T n.2643C>T n.2614C>T n.2504C>T c.5046C>T (p.Ile1682=) c.*4558C>T (n.*4558C>T) c.5082C>T (p.Ile1694=) n.3114C>T c.1573C>T n.2506C>T c.5445C>T (p.Ile1815=) c.5442C>T (p.Ile1814=) c.5334C>T (p.Ile1778=) c.5313C>T (p.Ile1771=) c.4659C>T (p.Ile1553=) c.5607C>T (p.Ile1869=) c.5355C>T (p.Ile1785=) c.4101C>T (p.Ile1367=) | ClinVar dbSNP gnomAD v4 |
16 | g.2088580_2088582del | CA055284 | TSC2 | c.*3743_*3745del (n.*3743_*3745del) c.5241_5243del (p.Ser1748del) c.5391_5393del (p.Ser1798del) c.*5907_*5909del (n.*5907_*5909del) c.*8143_*8145del (n.*8143_*8145del) c.5394_5396del (p.Ser1799del) c.5325_5327del (p.Ser1776del) c.5193_5195del (p.Ser1732del) c.5226_5228del (p.Ser1743del) c.1617_1619del n.3276_3278del c.4048_4050del c.5253_5255del (p.Ser1752del) n.991_993del c.5196_5198del (p.Ser1733del) c.5262_5264del (p.Ser1755del) c.5187_5189del (p.Ser1730del) n.3042_3044del c.5319_5321del (p.Ser1774del) c.5265_5267del (p.Ser1756del) c.5280_5282del (p.Ser1761del) c.5190_5192del (p.Ser1731del) c.5315_5317del c.5388_5390del (p.Ser1797del) n.4209_4211del n.2646_2648del n.2617_2619del n.2507_2509del c.5049_5051del (p.Ser1684del) c.*4561_*4563del (n.*4561_*4563del) c.5085_5087del (p.Ser1696del) n.3117_3119del c.1576_1578del n.2509_2511del c.5448_5450del (p.Ser1817del) c.5445_5447del (p.Ser1816del) c.5337_5339del (p.Ser1780del) c.5316_5318del (p.Ser1773del) c.4662_4664del (p.Ser1555del) c.5610_5612del (p.Ser1871del) c.5358_5360del (p.Ser1787del) c.4104_4106del (p.Ser1369del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088578T>A | CA394316084 | TSC2 | c.*3741T>A (n.*3741T>A) c.5239T>A (p.Ser1747Thr) c.5389T>A (p.Ser1797Thr) c.*5905T>A (n.*5905T>A) c.*8141T>A (n.*8141T>A) c.5392T>A (p.Ser1798Thr) c.5323T>A (p.Ser1775Thr) c.5191T>A (p.Ser1731Thr) c.5224T>A (p.Ser1742Thr) c.1615T>A n.3274T>A c.4046T>A c.5251T>A (p.Ser1751Thr) n.989T>A c.5194T>A (p.Ser1732Thr) c.5260T>A (p.Ser1754Thr) c.5185T>A (p.Ser1729Thr) n.3040T>A c.5317T>A (p.Ser1773Thr) c.5263T>A (p.Ser1755Thr) c.5278T>A (p.Ser1760Thr) c.5188T>A (p.Ser1730Thr) c.5313T>A c.5386T>A (p.Ser1796Thr) n.4207T>A n.2644T>A n.2615T>A n.2505T>A c.5047T>A (p.Ser1683Thr) c.*4559T>A (n.*4559T>A) c.5083T>A (p.Ser1695Thr) n.3115T>A c.1574T>A n.2507T>A c.5446T>A (p.Ser1816Thr) c.5443T>A (p.Ser1815Thr) c.5335T>A (p.Ser1779Thr) c.5314T>A (p.Ser1772Thr) c.4660T>A (p.Ser1554Thr) c.5608T>A (p.Ser1870Thr) c.5356T>A (p.Ser1786Thr) c.4102T>A (p.Ser1368Thr) | ClinVar |
16 | g.2088578T>C | CA394316091 | TSC2 | c.*3741T>C (n.*3741T>C) c.5239T>C (p.Ser1747Pro) c.5389T>C (p.Ser1797Pro) c.*5905T>C (n.*5905T>C) c.*8141T>C (n.*8141T>C) c.5392T>C (p.Ser1798Pro) c.5323T>C (p.Ser1775Pro) c.5191T>C (p.Ser1731Pro) c.5224T>C (p.Ser1742Pro) c.1615T>C n.3274T>C c.4046T>C c.5251T>C (p.Ser1751Pro) n.989T>C c.5194T>C (p.Ser1732Pro) c.5260T>C (p.Ser1754Pro) c.5185T>C (p.Ser1729Pro) n.3040T>C c.5317T>C (p.Ser1773Pro) c.5263T>C (p.Ser1755Pro) c.5278T>C (p.Ser1760Pro) c.5188T>C (p.Ser1730Pro) c.5313T>C c.5386T>C (p.Ser1796Pro) n.4207T>C n.2644T>C n.2615T>C n.2505T>C c.5047T>C (p.Ser1683Pro) c.*4559T>C (n.*4559T>C) c.5083T>C (p.Ser1695Pro) n.3115T>C c.1574T>C n.2507T>C c.5446T>C (p.Ser1816Pro) c.5443T>C (p.Ser1815Pro) c.5335T>C (p.Ser1779Pro) c.5314T>C (p.Ser1772Pro) c.4660T>C (p.Ser1554Pro) c.5608T>C (p.Ser1870Pro) c.5356T>C (p.Ser1786Pro) c.4102T>C (p.Ser1368Pro) | |
16 | g.2088578T>G | CA394316096 | TSC2 | c.*3741T>G (n.*3741T>G) c.5239T>G (p.Ser1747Ala) c.5389T>G (p.Ser1797Ala) c.*5905T>G (n.*5905T>G) c.*8141T>G (n.*8141T>G) c.5392T>G (p.Ser1798Ala) c.5323T>G (p.Ser1775Ala) c.5191T>G (p.Ser1731Ala) c.5224T>G (p.Ser1742Ala) c.1615T>G n.3274T>G c.4046T>G c.5251T>G (p.Ser1751Ala) n.989T>G c.5194T>G (p.Ser1732Ala) c.5260T>G (p.Ser1754Ala) c.5185T>G (p.Ser1729Ala) n.3040T>G c.5317T>G (p.Ser1773Ala) c.5263T>G (p.Ser1755Ala) c.5278T>G (p.Ser1760Ala) c.5188T>G (p.Ser1730Ala) c.5313T>G c.5386T>G (p.Ser1796Ala) n.4207T>G n.2644T>G n.2615T>G n.2505T>G c.5047T>G (p.Ser1683Ala) c.*4559T>G (n.*4559T>G) c.5083T>G (p.Ser1695Ala) n.3115T>G c.1574T>G n.2507T>G c.5446T>G (p.Ser1816Ala) c.5443T>G (p.Ser1815Ala) c.5335T>G (p.Ser1779Ala) c.5314T>G (p.Ser1772Ala) c.4660T>G (p.Ser1554Ala) c.5608T>G (p.Ser1870Ala) c.5356T>G (p.Ser1786Ala) c.4102T>G (p.Ser1368Ala) | ClinVar dbSNP |
16 | g.2088578T= | CA2202034410 | TSC2 | c.*3741T= (n.*3741T=) c.5239T= (p.Ser1747=) c.5389T= (p.Ser1797=) c.*5905T= (n.*5905T=) c.*8141T= (n.*8141T=) c.5392T= (p.Ser1798=) c.5323T= (p.Ser1775=) c.5191T= (p.Ser1731=) c.5224T= (p.Ser1742=) c.1615T= n.3274T= c.4046T= c.5251T= (p.Ser1751=) n.989T= c.5194T= (p.Ser1732=) c.5260T= (p.Ser1754=) c.5185T= (p.Ser1729=) n.3040T= c.5317T= (p.Ser1773=) c.5263T= (p.Ser1755=) c.5278T= (p.Ser1760=) c.5188T= (p.Ser1730=) c.5313T= c.5386T= (p.Ser1796=) n.4207T= n.2644T= n.2615T= n.2505T= c.5047T= (p.Ser1683=) c.*4559T= (n.*4559T=) c.5083T= (p.Ser1695=) n.3115T= c.1574T= n.2507T= c.5446T= (p.Ser1816=) c.5443T= (p.Ser1815=) c.5335T= (p.Ser1779=) c.5314T= (p.Ser1772=) c.4660T= (p.Ser1554=) c.5608T= (p.Ser1870=) c.5356T= (p.Ser1786=) c.4102T= (p.Ser1368=) | |
16 | g.2088578_2088667delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA | CA2202034407 | TSC2 | c.*3741_*3830delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA (n.*3741_*3830delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA) c.5239_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA (n.[c.5239_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA;Ser1747=]) c.5389_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA (n.[c.5389_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA;Ser1797=]) c.*5905_*5994delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA (n.*5905_*5994delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA) c.*8141_*8230delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA (n.*8141_*8230delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA) c.5392_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA (n.[c.5392_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA;Ser1798=]) c.5323_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA (n.[c.5323_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA;Ser1775=]) c.5191_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA (n.[c.5191_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA;Ser1731=]) c.5224_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA (n.[c.5224_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA;Ser1742=]) c.1615_1704delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA n.3274_3363delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA c.5251_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA (n.[c.5251_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA;Ser1751=]) n.989_1078delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA c.5194_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA (n.[c.5194_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA;Ser1732=]) c.5260_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA (n.[c.5260_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA;Ser1754=]) c.5185_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA (n.[c.5185_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA;Ser1729=]) c.5317_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA (n.[c.5317_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA;Ser1773=]) c.5263_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA (n.[c.5263_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA;Ser1755=]) c.5278_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA (n.[c.5278_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA;Ser1760=]) c.5188_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA (n.[c.5188_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA;Ser1730=]) c.5313_5402delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA c.5386_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA (n.[c.5386_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA;Ser1796=]) n.4207_4296delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA n.2615_2704delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA n.2505_2594delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA c.5047_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA (n.[c.5047_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA;Ser1683=]) c.*4559_*4648delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA (n.*4559_*4648delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA) c.5083_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA (n.[c.5083_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA;Ser1695=]) n.3115_3204delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA c.1574_1663delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA n.2507_2596delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA c.5446_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA (n.[c.5446_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA;Ser1816=]) c.5443_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA (n.[c.5443_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA;Ser1815=]) c.5335_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA (n.[c.5335_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA;Ser1779=]) c.5314_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA (n.[c.5314_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA;Ser1772=]) c.4660_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA (n.[c.4660_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA;Ser1554=]) c.5608_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA (n.[c.5608_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA;Ser1870=]) c.5356_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA (n.[c.5356_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA;Ser1786=]) c.4102_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA (n.[c.4102_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA;Ser1368=]) | |
16 | g.2088579C>A | CA394316103 | TSC2 | c.*3742C>A (n.*3742C>A) c.5240C>A (p.Ser1747Tyr) c.5390C>A (p.Ser1797Tyr) c.*5906C>A (n.*5906C>A) c.*8142C>A (n.*8142C>A) c.5393C>A (p.Ser1798Tyr) c.5324C>A (p.Ser1775Tyr) c.5192C>A (p.Ser1731Tyr) c.5225C>A (p.Ser1742Tyr) c.1616C>A n.3275C>A c.4047C>A c.5252C>A (p.Ser1751Tyr) n.990C>A c.5195C>A (p.Ser1732Tyr) c.5261C>A (p.Ser1754Tyr) c.5186C>A (p.Ser1729Tyr) n.3041C>A c.5318C>A (p.Ser1773Tyr) c.5264C>A (p.Ser1755Tyr) c.5279C>A (p.Ser1760Tyr) c.5189C>A (p.Ser1730Tyr) c.5314C>A c.5387C>A (p.Ser1796Tyr) n.4208C>A n.2645C>A n.2616C>A n.2506C>A c.5048C>A (p.Ser1683Tyr) c.*4560C>A (n.*4560C>A) c.5084C>A (p.Ser1695Tyr) n.3116C>A c.1575C>A n.2508C>A c.5447C>A (p.Ser1816Tyr) c.5444C>A (p.Ser1815Tyr) c.5336C>A (p.Ser1779Tyr) c.5315C>A (p.Ser1772Tyr) c.4661C>A (p.Ser1554Tyr) c.5609C>A (p.Ser1870Tyr) c.5357C>A (p.Ser1786Tyr) c.4103C>A (p.Ser1368Tyr) | gnomAD v4 |
16 | g.2088579C= | CA2202034425 | TSC2 | c.*3742C= (n.*3742C=) c.5240C= (p.Ser1747=) c.5390C= (p.Ser1797=) c.*5906C= (n.*5906C=) c.*8142C= (n.*8142C=) c.5393C= (p.Ser1798=) c.5324C= (p.Ser1775=) c.5192C= (p.Ser1731=) c.5225C= (p.Ser1742=) c.1616C= n.3275C= c.4047C= c.5252C= (p.Ser1751=) n.990C= c.5195C= (p.Ser1732=) c.5261C= (p.Ser1754=) c.5186C= (p.Ser1729=) n.3041C= c.5318C= (p.Ser1773=) c.5264C= (p.Ser1755=) c.5279C= (p.Ser1760=) c.5189C= (p.Ser1730=) c.5314C= c.5387C= (p.Ser1796=) n.4208C= n.2645C= n.2616C= n.2506C= c.5048C= (p.Ser1683=) c.*4560C= (n.*4560C=) c.5084C= (p.Ser1695=) n.3116C= c.1575C= n.2508C= c.5447C= (p.Ser1816=) c.5444C= (p.Ser1815=) c.5336C= (p.Ser1779=) c.5315C= (p.Ser1772=) c.4661C= (p.Ser1554=) c.5609C= (p.Ser1870=) c.5357C= (p.Ser1786=) c.4103C= (p.Ser1368=) | |
16 | g.2088579C>G | CA394316106 | TSC2 | c.*3742C>G (n.*3742C>G) c.5240C>G (p.Ser1747Cys) c.5390C>G (p.Ser1797Cys) c.*5906C>G (n.*5906C>G) c.*8142C>G (n.*8142C>G) c.5393C>G (p.Ser1798Cys) c.5324C>G (p.Ser1775Cys) c.5192C>G (p.Ser1731Cys) c.5225C>G (p.Ser1742Cys) c.1616C>G n.3275C>G c.4047C>G c.5252C>G (p.Ser1751Cys) n.990C>G c.5195C>G (p.Ser1732Cys) c.5261C>G (p.Ser1754Cys) c.5186C>G (p.Ser1729Cys) n.3041C>G c.5318C>G (p.Ser1773Cys) c.5264C>G (p.Ser1755Cys) c.5279C>G (p.Ser1760Cys) c.5189C>G (p.Ser1730Cys) c.5314C>G c.5387C>G (p.Ser1796Cys) n.4208C>G n.2645C>G n.2616C>G n.2506C>G c.5048C>G (p.Ser1683Cys) c.*4560C>G (n.*4560C>G) c.5084C>G (p.Ser1695Cys) n.3116C>G c.1575C>G n.2508C>G c.5447C>G (p.Ser1816Cys) c.5444C>G (p.Ser1815Cys) c.5336C>G (p.Ser1779Cys) c.5315C>G (p.Ser1772Cys) c.4661C>G (p.Ser1554Cys) c.5609C>G (p.Ser1870Cys) c.5357C>G (p.Ser1786Cys) c.4103C>G (p.Ser1368Cys) | |
16 | g.2088579C>T | CA394316110 | TSC2 | c.*3742C>T (n.*3742C>T) c.5240C>T (p.Ser1747Phe) c.5390C>T (p.Ser1797Phe) c.*5906C>T (n.*5906C>T) c.*8142C>T (n.*8142C>T) c.5393C>T (p.Ser1798Phe) c.5324C>T (p.Ser1775Phe) c.5192C>T (p.Ser1731Phe) c.5225C>T (p.Ser1742Phe) c.1616C>T n.3275C>T c.4047C>T c.5252C>T (p.Ser1751Phe) n.990C>T c.5195C>T (p.Ser1732Phe) c.5261C>T (p.Ser1754Phe) c.5186C>T (p.Ser1729Phe) n.3041C>T c.5318C>T (p.Ser1773Phe) c.5264C>T (p.Ser1755Phe) c.5279C>T (p.Ser1760Phe) c.5189C>T (p.Ser1730Phe) c.5314C>T c.5387C>T (p.Ser1796Phe) n.4208C>T n.2645C>T n.2616C>T n.2506C>T c.5048C>T (p.Ser1683Phe) c.*4560C>T (n.*4560C>T) c.5084C>T (p.Ser1695Phe) n.3116C>T c.1575C>T n.2508C>T c.5447C>T (p.Ser1816Phe) c.5444C>T (p.Ser1815Phe) c.5336C>T (p.Ser1779Phe) c.5315C>T (p.Ser1772Phe) c.4661C>T (p.Ser1554Phe) c.5609C>T (p.Ser1870Phe) c.5357C>T (p.Ser1786Phe) c.4103C>T (p.Ser1368Phe) | ClinVar dbSNP COSMIC COSMIC |
16 | g.2088579_2088667del | CA891844206 | TSC2 | c.*3742_*3830del (n.*3742_*3830del) c.5240_*57del (n.[c.5240_*57del;Ser1747TyrfsTer?]) c.5390_*57del (n.[c.5390_*57del;Ser1797TyrfsTer?]) c.*5906_*5994del (n.*5906_*5994del) c.*8142_*8230del (n.*8142_*8230del) c.5393_*57del (n.[c.5393_*57del;Ser1798TyrfsTer?]) c.5324_*57del (n.[c.5324_*57del;Ser1775TyrfsTer?]) c.5192_*57del (n.[c.5192_*57del;Ser1731TyrfsTer?]) c.5225_*57del (n.[c.5225_*57del;Ser1742TyrfsTer?]) c.1616_1704del n.3275_3363del c.5252_*57del (n.[c.5252_*57del;Ser1751TyrfsTer?]) n.990_1078del c.5195_*57del (n.[c.5195_*57del;Ser1732TyrfsTer?]) c.5261_*57del (n.[c.5261_*57del;Ser1754TyrfsTer?]) c.5186_*57del (n.[c.5186_*57del;Ser1729TyrfsTer?]) c.5318_*57del (n.[c.5318_*57del;Ser1773TyrfsTer?]) c.5264_*57del (n.[c.5264_*57del;Ser1755TyrfsTer?]) c.5279_*57del (n.[c.5279_*57del;Ser1760TyrfsTer?]) c.5189_*57del (n.[c.5189_*57del;Ser1730TyrfsTer?]) c.5314_5402del c.5387_*57del (n.[c.5387_*57del;Ser1796TyrfsTer?]) n.4208_4296del n.2616_2704del n.2506_2594del c.5048_*57del (n.[c.5048_*57del;Ser1683TyrfsTer?]) c.*4560_*4648del (n.*4560_*4648del) c.5084_*57del (n.[c.5084_*57del;Ser1695TyrfsTer?]) n.3116_3204del c.1575_1663del n.2508_2596del c.5447_*57del (n.[c.5447_*57del;Ser1816TyrfsTer?]) c.5444_*57del (n.[c.5444_*57del;Ser1815TyrfsTer?]) c.5336_*57del (n.[c.5336_*57del;Ser1779TyrfsTer?]) c.5315_*57del (n.[c.5315_*57del;Ser1772TyrfsTer?]) c.4661_*57del (n.[c.4661_*57del;Ser1554TyrfsTer?]) c.5609_*57del (n.[c.5609_*57del;Ser1870TyrfsTer?]) c.5357_*57del (n.[c.5357_*57del;Ser1786TyrfsTer?]) c.4103_*57del (n.[c.4103_*57del;Ser1368TyrfsTer?]) | ClinVar dbSNP |
16 | g.2088580C>A | CA493043816 | TSC2 | c.*3743C>A (n.*3743C>A) c.5241C>A (p.Ser1747=) c.5391C>A (p.Ser1797=) c.*5907C>A (n.*5907C>A) c.*8143C>A (n.*8143C>A) c.5394C>A (p.Ser1798=) c.5325C>A (p.Ser1775=) c.5193C>A (p.Ser1731=) c.5226C>A (p.Ser1742=) c.1617C>A n.3276C>A c.4048C>A c.5253C>A (p.Ser1751=) n.991C>A c.5196C>A (p.Ser1732=) c.5262C>A (p.Ser1754=) c.5187C>A (p.Ser1729=) n.3042C>A c.5319C>A (p.Ser1773=) c.5265C>A (p.Ser1755=) c.5280C>A (p.Ser1760=) c.5190C>A (p.Ser1730=) c.5315C>A c.5388C>A (p.Ser1796=) n.4209C>A n.2646C>A n.2617C>A n.2507C>A c.5049C>A (p.Ser1683=) c.*4561C>A (n.*4561C>A) c.5085C>A (p.Ser1695=) n.3117C>A c.1576C>A n.2509C>A c.5448C>A (p.Ser1816=) c.5445C>A (p.Ser1815=) c.5337C>A (p.Ser1779=) c.5316C>A (p.Ser1772=) c.4662C>A (p.Ser1554=) c.5610C>A (p.Ser1870=) c.5358C>A (p.Ser1786=) c.4104C>A (p.Ser1368=) | |
16 | g.2088580C>G | CA493043817 | TSC2 | c.*3743C>G (n.*3743C>G) c.5241C>G (p.Ser1747=) c.5391C>G (p.Ser1797=) c.*5907C>G (n.*5907C>G) c.*8143C>G (n.*8143C>G) c.5394C>G (p.Ser1798=) c.5325C>G (p.Ser1775=) c.5193C>G (p.Ser1731=) c.5226C>G (p.Ser1742=) c.1617C>G n.3276C>G c.4048C>G c.5253C>G (p.Ser1751=) n.991C>G c.5196C>G (p.Ser1732=) c.5262C>G (p.Ser1754=) c.5187C>G (p.Ser1729=) n.3042C>G c.5319C>G (p.Ser1773=) c.5265C>G (p.Ser1755=) c.5280C>G (p.Ser1760=) c.5190C>G (p.Ser1730=) c.5315C>G c.5388C>G (p.Ser1796=) n.4209C>G n.2646C>G n.2617C>G n.2507C>G c.5049C>G (p.Ser1683=) c.*4561C>G (n.*4561C>G) c.5085C>G (p.Ser1695=) n.3117C>G c.1576C>G n.2509C>G c.5448C>G (p.Ser1816=) c.5445C>G (p.Ser1815=) c.5337C>G (p.Ser1779=) c.5316C>G (p.Ser1772=) c.4662C>G (p.Ser1554=) c.5610C>G (p.Ser1870=) c.5358C>G (p.Ser1786=) c.4104C>G (p.Ser1368=) | ClinVar |
16 | g.2088580C>T | CA493043819 | TSC2 | c.*3743C>T (n.*3743C>T) c.5241C>T (p.Ser1747=) c.5391C>T (p.Ser1797=) c.*5907C>T (n.*5907C>T) c.*8143C>T (n.*8143C>T) c.5394C>T (p.Ser1798=) c.5325C>T (p.Ser1775=) c.5193C>T (p.Ser1731=) c.5226C>T (p.Ser1742=) c.1617C>T n.3276C>T c.4048C>T c.5253C>T (p.Ser1751=) n.991C>T c.5196C>T (p.Ser1732=) c.5262C>T (p.Ser1754=) c.5187C>T (p.Ser1729=) n.3042C>T c.5319C>T (p.Ser1773=) c.5265C>T (p.Ser1755=) c.5280C>T (p.Ser1760=) c.5190C>T (p.Ser1730=) c.5315C>T c.5388C>T (p.Ser1796=) n.4209C>T n.2646C>T n.2617C>T n.2507C>T c.5049C>T (p.Ser1683=) c.*4561C>T (n.*4561C>T) c.5085C>T (p.Ser1695=) n.3117C>T c.1576C>T n.2509C>T c.5448C>T (p.Ser1816=) c.5445C>T (p.Ser1815=) c.5337C>T (p.Ser1779=) c.5316C>T (p.Ser1772=) c.4662C>T (p.Ser1554=) c.5610C>T (p.Ser1870=) c.5358C>T (p.Ser1786=) c.4104C>T (p.Ser1368=) | ClinVar dbSNP gnomAD v4 |
16 | g.2088581T>A | CA394316117 | TSC2 | c.*3744T>A (n.*3744T>A) c.5242T>A (p.Ser1748Thr) c.5392T>A (p.Ser1798Thr) c.*5908T>A (n.*5908T>A) c.*8144T>A (n.*8144T>A) c.5395T>A (p.Ser1799Thr) c.5326T>A (p.Ser1776Thr) c.5194T>A (p.Ser1732Thr) c.5227T>A (p.Ser1743Thr) c.1618T>A n.3277T>A c.4049T>A c.5254T>A (p.Ser1752Thr) n.992T>A c.5197T>A (p.Ser1733Thr) c.5263T>A (p.Ser1755Thr) c.5188T>A (p.Ser1730Thr) n.3043T>A c.5320T>A (p.Ser1774Thr) c.5266T>A (p.Ser1756Thr) c.5281T>A (p.Ser1761Thr) c.5191T>A (p.Ser1731Thr) c.5316T>A c.5389T>A (p.Ser1797Thr) n.4210T>A n.2647T>A n.2618T>A n.2508T>A c.5050T>A (p.Ser1684Thr) c.*4562T>A (n.*4562T>A) c.5086T>A (p.Ser1696Thr) n.3118T>A c.1577T>A n.2510T>A c.5449T>A (p.Ser1817Thr) c.5446T>A (p.Ser1816Thr) c.5338T>A (p.Ser1780Thr) c.5317T>A (p.Ser1773Thr) c.4663T>A (p.Ser1555Thr) c.5611T>A (p.Ser1871Thr) c.5359T>A (p.Ser1787Thr) c.4105T>A (p.Ser1369Thr) | |
16 | g.2088581T>C | CA394316115 | TSC2 | c.*3744T>C (n.*3744T>C) c.5242T>C (p.Ser1748Pro) c.5392T>C (p.Ser1798Pro) c.*5908T>C (n.*5908T>C) c.*8144T>C (n.*8144T>C) c.5395T>C (p.Ser1799Pro) c.5326T>C (p.Ser1776Pro) c.5194T>C (p.Ser1732Pro) c.5227T>C (p.Ser1743Pro) c.1618T>C n.3277T>C c.4049T>C c.5254T>C (p.Ser1752Pro) n.992T>C c.5197T>C (p.Ser1733Pro) c.5263T>C (p.Ser1755Pro) c.5188T>C (p.Ser1730Pro) n.3043T>C c.5320T>C (p.Ser1774Pro) c.5266T>C (p.Ser1756Pro) c.5281T>C (p.Ser1761Pro) c.5191T>C (p.Ser1731Pro) c.5316T>C c.5389T>C (p.Ser1797Pro) n.4210T>C n.2647T>C n.2618T>C n.2508T>C c.5050T>C (p.Ser1684Pro) c.*4562T>C (n.*4562T>C) c.5086T>C (p.Ser1696Pro) n.3118T>C c.1577T>C n.2510T>C c.5449T>C (p.Ser1817Pro) c.5446T>C (p.Ser1816Pro) c.5338T>C (p.Ser1780Pro) c.5317T>C (p.Ser1773Pro) c.4663T>C (p.Ser1555Pro) c.5611T>C (p.Ser1871Pro) c.5359T>C (p.Ser1787Pro) c.4105T>C (p.Ser1369Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088581T>G | CA394316116 | TSC2 | c.*3744T>G (n.*3744T>G) c.5242T>G (p.Ser1748Ala) c.5392T>G (p.Ser1798Ala) c.*5908T>G (n.*5908T>G) c.*8144T>G (n.*8144T>G) c.5395T>G (p.Ser1799Ala) c.5326T>G (p.Ser1776Ala) c.5194T>G (p.Ser1732Ala) c.5227T>G (p.Ser1743Ala) c.1618T>G n.3277T>G c.4049T>G c.5254T>G (p.Ser1752Ala) n.992T>G c.5197T>G (p.Ser1733Ala) c.5263T>G (p.Ser1755Ala) c.5188T>G (p.Ser1730Ala) n.3043T>G c.5320T>G (p.Ser1774Ala) c.5266T>G (p.Ser1756Ala) c.5281T>G (p.Ser1761Ala) c.5191T>G (p.Ser1731Ala) c.5316T>G c.5389T>G (p.Ser1797Ala) n.4210T>G n.2647T>G n.2618T>G n.2508T>G c.5050T>G (p.Ser1684Ala) c.*4562T>G (n.*4562T>G) c.5086T>G (p.Ser1696Ala) n.3118T>G c.1577T>G n.2510T>G c.5449T>G (p.Ser1817Ala) c.5446T>G (p.Ser1816Ala) c.5338T>G (p.Ser1780Ala) c.5317T>G (p.Ser1773Ala) c.4663T>G (p.Ser1555Ala) c.5611T>G (p.Ser1871Ala) c.5359T>G (p.Ser1787Ala) c.4105T>G (p.Ser1369Ala) | ClinVar dbSNP |
16 | g.2088581T= | CA2202034430 | TSC2 | c.*3744T= (n.*3744T=) c.5242T= (p.Ser1748=) c.5392T= (p.Ser1798=) c.*5908T= (n.*5908T=) c.*8144T= (n.*8144T=) c.5395T= (p.Ser1799=) c.5326T= (p.Ser1776=) c.5194T= (p.Ser1732=) c.5227T= (p.Ser1743=) c.1618T= n.3277T= c.4049T= c.5254T= (p.Ser1752=) n.992T= c.5197T= (p.Ser1733=) c.5263T= (p.Ser1755=) c.5188T= (p.Ser1730=) n.3043T= c.5320T= (p.Ser1774=) c.5266T= (p.Ser1756=) c.5281T= (p.Ser1761=) c.5191T= (p.Ser1731=) c.5316T= c.5389T= (p.Ser1797=) n.4210T= n.2647T= n.2618T= n.2508T= c.5050T= (p.Ser1684=) c.*4562T= (n.*4562T=) c.5086T= (p.Ser1696=) n.3118T= c.1577T= n.2510T= c.5449T= (p.Ser1817=) c.5446T= (p.Ser1816=) c.5338T= (p.Ser1780=) c.5317T= (p.Ser1773=) c.4663T= (p.Ser1555=) c.5611T= (p.Ser1871=) c.5359T= (p.Ser1787=) c.4105T= (p.Ser1369=) | |
16 | g.2088581_2088583del | CA2499223359 | TSC2 | c.*3744_*3746del (n.*3744_*3746del) c.5242_5244del (p.Ser1748del) c.5392_5394del (p.Ser1798del) c.*5908_*5910del (n.*5908_*5910del) c.*8144_*8146del (n.*8144_*8146del) c.5395_5397del (p.Ser1799del) c.5326_5328del (p.Ser1776del) c.5194_5196del (p.Ser1732del) c.5227_5229del (p.Ser1743del) c.1618_1620del n.3277_3279del c.4049_4051del c.5254_5256del (p.Ser1752del) n.992_994del c.5197_5199del (p.Ser1733del) c.5263_5265del (p.Ser1755del) c.5188_5190del (p.Ser1730del) n.3043_3045del c.5320_5322del (p.Ser1774del) c.5266_5268del (p.Ser1756del) c.5281_5283del (p.Ser1761del) c.5191_5193del (p.Ser1731del) c.5316_5318del c.5389_5391del (p.Ser1797del) n.4210_4212del n.2647_2649del n.2618_2620del n.2508_2510del c.5050_5052del (p.Ser1684del) c.*4562_*4564del (n.*4562_*4564del) c.5086_5088del (p.Ser1696del) n.3118_3120del c.1577_1579del n.2510_2512del c.5449_5451del (p.Ser1817del) c.5446_5448del (p.Ser1816del) c.5338_5340del (p.Ser1780del) c.5317_5319del (p.Ser1773del) c.4663_4665del (p.Ser1555del) c.5611_5613del (p.Ser1871del) c.5359_5361del (p.Ser1787del) c.4105_4107del (p.Ser1369del) | ClinVar dbSNP |
16 | g.2088582C>A | CA394316118 | TSC2 | c.*3745C>A (n.*3745C>A) c.5243C>A (p.Ser1748Ter) c.5393C>A (p.Ser1798Ter) c.*5909C>A (n.*5909C>A) c.*8145C>A (n.*8145C>A) c.5396C>A (p.Ser1799Ter) c.5327C>A (p.Ser1776Ter) c.5195C>A (p.Ser1732Ter) c.5228C>A (p.Ser1743Ter) c.1619C>A n.3278C>A c.4050C>A c.5255C>A (p.Ser1752Ter) n.993C>A c.5198C>A (p.Ser1733Ter) c.5264C>A (p.Ser1755Ter) c.5189C>A (p.Ser1730Ter) n.3044C>A c.5321C>A (p.Ser1774Ter) c.5267C>A (p.Ser1756Ter) c.5282C>A (p.Ser1761Ter) c.5192C>A (p.Ser1731Ter) c.5317C>A c.5390C>A (p.Ser1797Ter) n.4211C>A n.2648C>A n.2619C>A n.2509C>A c.5051C>A (p.Ser1684Ter) c.*4563C>A (n.*4563C>A) c.5087C>A (p.Ser1696Ter) n.3119C>A c.1578C>A n.2511C>A c.5450C>A (p.Ser1817Ter) c.5447C>A (p.Ser1816Ter) c.5339C>A (p.Ser1780Ter) c.5318C>A (p.Ser1773Ter) c.4664C>A (p.Ser1555Ter) c.5612C>A (p.Ser1871Ter) c.5360C>A (p.Ser1787Ter) c.4106C>A (p.Ser1369Ter) | dbSNP gnomAD v2 |
16 | g.2088582C= | CA2202034436 | TSC2 | c.*3745C= (n.*3745C=) c.5243C= (p.Ser1748=) c.5393C= (p.Ser1798=) c.*5909C= (n.*5909C=) c.*8145C= (n.*8145C=) c.5396C= (p.Ser1799=) c.5327C= (p.Ser1776=) c.5195C= (p.Ser1732=) c.5228C= (p.Ser1743=) c.1619C= n.3278C= c.4050C= c.5255C= (p.Ser1752=) n.993C= c.5198C= (p.Ser1733=) c.5264C= (p.Ser1755=) c.5189C= (p.Ser1730=) n.3044C= c.5321C= (p.Ser1774=) c.5267C= (p.Ser1756=) c.5282C= (p.Ser1761=) c.5192C= (p.Ser1731=) c.5317C= c.5390C= (p.Ser1797=) n.4211C= n.2648C= n.2619C= n.2509C= c.5051C= (p.Ser1684=) c.*4563C= (n.*4563C=) c.5087C= (p.Ser1696=) n.3119C= c.1578C= n.2511C= c.5450C= (p.Ser1817=) c.5447C= (p.Ser1816=) c.5339C= (p.Ser1780=) c.5318C= (p.Ser1773=) c.4664C= (p.Ser1555=) c.5612C= (p.Ser1871=) c.5360C= (p.Ser1787=) c.4106C= (p.Ser1369=) | |
16 | g.2088582C>G | CA394316119 | TSC2 | c.*3745C>G (n.*3745C>G) c.5243C>G (p.Ser1748Trp) c.5393C>G (p.Ser1798Trp) c.*5909C>G (n.*5909C>G) c.*8145C>G (n.*8145C>G) c.5396C>G (p.Ser1799Trp) c.5327C>G (p.Ser1776Trp) c.5195C>G (p.Ser1732Trp) c.5228C>G (p.Ser1743Trp) c.1619C>G n.3278C>G c.4050C>G c.5255C>G (p.Ser1752Trp) n.993C>G c.5198C>G (p.Ser1733Trp) c.5264C>G (p.Ser1755Trp) c.5189C>G (p.Ser1730Trp) n.3044C>G c.5321C>G (p.Ser1774Trp) c.5267C>G (p.Ser1756Trp) c.5282C>G (p.Ser1761Trp) c.5192C>G (p.Ser1731Trp) c.5317C>G c.5390C>G (p.Ser1797Trp) n.4211C>G n.2648C>G n.2619C>G n.2509C>G c.5051C>G (p.Ser1684Trp) c.*4563C>G (n.*4563C>G) c.5087C>G (p.Ser1696Trp) n.3119C>G c.1578C>G n.2511C>G c.5450C>G (p.Ser1817Trp) c.5447C>G (p.Ser1816Trp) c.5339C>G (p.Ser1780Trp) c.5318C>G (p.Ser1773Trp) c.4664C>G (p.Ser1555Trp) c.5612C>G (p.Ser1871Trp) c.5360C>G (p.Ser1787Trp) c.4106C>G (p.Ser1369Trp) | ClinVar dbSNP |
16 | g.2088582C>T | CA055299 | TSC2 | c.*3745C>T (n.*3745C>T) c.5243C>T (p.Ser1748Leu) c.5393C>T (p.Ser1798Leu) c.*5909C>T (n.*5909C>T) c.*8145C>T (n.*8145C>T) c.5396C>T (p.Ser1799Leu) c.5327C>T (p.Ser1776Leu) c.5195C>T (p.Ser1732Leu) c.5228C>T (p.Ser1743Leu) c.1619C>T n.3278C>T c.4050C>T c.5255C>T (p.Ser1752Leu) n.993C>T c.5198C>T (p.Ser1733Leu) c.5264C>T (p.Ser1755Leu) c.5189C>T (p.Ser1730Leu) n.3044C>T c.5321C>T (p.Ser1774Leu) c.5267C>T (p.Ser1756Leu) c.5282C>T (p.Ser1761Leu) c.5192C>T (p.Ser1731Leu) c.5317C>T c.5390C>T (p.Ser1797Leu) n.4211C>T n.2648C>T n.2619C>T n.2509C>T c.5051C>T (p.Ser1684Leu) c.*4563C>T (n.*4563C>T) c.5087C>T (p.Ser1696Leu) n.3119C>T c.1578C>T n.2511C>T c.5450C>T (p.Ser1817Leu) c.5447C>T (p.Ser1816Leu) c.5339C>T (p.Ser1780Leu) c.5318C>T (p.Ser1773Leu) c.4664C>T (p.Ser1555Leu) c.5612C>T (p.Ser1871Leu) c.5360C>T (p.Ser1787Leu) c.4106C>T (p.Ser1369Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2088583G>A | CA022471 | TSC2 | c.*3746G>A (n.*3746G>A) c.5244G>A (p.Ser1748=) c.5394G>A (p.Ser1798=) c.*5910G>A (n.*5910G>A) c.*8146G>A (n.*8146G>A) c.5397G>A (p.Ser1799=) c.5328G>A (p.Ser1776=) c.5196G>A (p.Ser1732=) c.5229G>A (p.Ser1743=) c.1620G>A n.3279G>A c.4051G>A c.5256G>A (p.Ser1752=) n.994G>A c.5199G>A (p.Ser1733=) c.5265G>A (p.Ser1755=) c.5190G>A (p.Ser1730=) n.3045G>A c.5322G>A (p.Ser1774=) c.5268G>A (p.Ser1756=) c.5283G>A (p.Ser1761=) c.5193G>A (p.Ser1731=) c.5318G>A c.5391G>A (p.Ser1797=) n.4212G>A n.2649G>A n.2620G>A n.2510G>A c.5052G>A (p.Ser1684=) c.*4564G>A (n.*4564G>A) c.5088G>A (p.Ser1696=) n.3120G>A c.1579G>A n.2512G>A c.5451G>A (p.Ser1817=) c.5448G>A (p.Ser1816=) c.5340G>A (p.Ser1780=) c.5319G>A (p.Ser1773=) c.4665G>A (p.Ser1555=) c.5613G>A (p.Ser1871=) c.5361G>A (p.Ser1787=) c.4107G>A (p.Ser1369=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088583G>C | CA022476 | TSC2 | c.*3746G>C (n.*3746G>C) c.5244G>C (p.Ser1748=) c.5394G>C (p.Ser1798=) c.*5910G>C (n.*5910G>C) c.*8146G>C (n.*8146G>C) c.5397G>C (p.Ser1799=) c.5328G>C (p.Ser1776=) c.5196G>C (p.Ser1732=) c.5229G>C (p.Ser1743=) c.1620G>C n.3279G>C c.4051G>C c.5256G>C (p.Ser1752=) n.994G>C c.5199G>C (p.Ser1733=) c.5265G>C (p.Ser1755=) c.5190G>C (p.Ser1730=) n.3045G>C c.5322G>C (p.Ser1774=) c.5268G>C (p.Ser1756=) c.5283G>C (p.Ser1761=) c.5193G>C (p.Ser1731=) c.5318G>C c.5391G>C (p.Ser1797=) n.4212G>C n.2649G>C n.2620G>C n.2510G>C c.5052G>C (p.Ser1684=) c.*4564G>C (n.*4564G>C) c.5088G>C (p.Ser1696=) n.3120G>C c.1579G>C n.2512G>C c.5451G>C (p.Ser1817=) c.5448G>C (p.Ser1816=) c.5340G>C (p.Ser1780=) c.5319G>C (p.Ser1773=) c.4665G>C (p.Ser1555=) c.5613G>C (p.Ser1871=) c.5361G>C (p.Ser1787=) c.4107G>C (p.Ser1369=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088583G= | CA2202034449 | TSC2 | c.*3746G= (n.*3746G=) c.5244G= (p.Ser1748=) c.5394G= (p.Ser1798=) c.*5910G= (n.*5910G=) c.*8146G= (n.*8146G=) c.5397G= (p.Ser1799=) c.5328G= (p.Ser1776=) c.5196G= (p.Ser1732=) c.5229G= (p.Ser1743=) c.1620G= n.3279G= c.4051G= c.5256G= (p.Ser1752=) n.994G= c.5199G= (p.Ser1733=) c.5265G= (p.Ser1755=) c.5190G= (p.Ser1730=) n.3045G= c.5322G= (p.Ser1774=) c.5268G= (p.Ser1756=) c.5283G= (p.Ser1761=) c.5193G= (p.Ser1731=) c.5318G= c.5391G= (p.Ser1797=) n.4212G= n.2649G= n.2620G= n.2510G= c.5052G= (p.Ser1684=) c.*4564G= (n.*4564G=) c.5088G= (p.Ser1696=) n.3120G= c.1579G= n.2512G= c.5451G= (p.Ser1817=) c.5448G= (p.Ser1816=) c.5340G= (p.Ser1780=) c.5319G= (p.Ser1773=) c.4665G= (p.Ser1555=) c.5613G= (p.Ser1871=) c.5361G= (p.Ser1787=) c.4107G= (p.Ser1369=) | |
16 | g.2088583G>T | CA493043829 | TSC2 | c.*3746G>T (n.*3746G>T) c.5244G>T (p.Ser1748=) c.5394G>T (p.Ser1798=) c.*5910G>T (n.*5910G>T) c.*8146G>T (n.*8146G>T) c.5397G>T (p.Ser1799=) c.5328G>T (p.Ser1776=) c.5196G>T (p.Ser1732=) c.5229G>T (p.Ser1743=) c.1620G>T n.3279G>T c.4051G>T c.5256G>T (p.Ser1752=) n.994G>T c.5199G>T (p.Ser1733=) c.5265G>T (p.Ser1755=) c.5190G>T (p.Ser1730=) n.3045G>T c.5322G>T (p.Ser1774=) c.5268G>T (p.Ser1756=) c.5283G>T (p.Ser1761=) c.5193G>T (p.Ser1731=) c.5318G>T c.5391G>T (p.Ser1797=) n.4212G>T n.2649G>T n.2620G>T n.2510G>T c.5052G>T (p.Ser1684=) c.*4564G>T (n.*4564G>T) c.5088G>T (p.Ser1696=) n.3120G>T c.1579G>T n.2512G>T c.5451G>T (p.Ser1817=) c.5448G>T (p.Ser1816=) c.5340G>T (p.Ser1780=) c.5319G>T (p.Ser1773=) c.4665G>T (p.Ser1555=) c.5613G>T (p.Ser1871=) c.5361G>T (p.Ser1787=) c.4107G>T (p.Ser1369=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088583_2088584delinsCA | CA916081768 | TSC2 | c.*3746_*3747delinsCA (n.*3746_*3747delinsCA) c.5244_5245delinsCA (p.Val1749Met) c.5394_5395delinsCA (p.Val1799Met) c.*5910_*5911delinsCA (n.*5910_*5911delinsCA) c.*8146_*8147delinsCA (n.*8146_*8147delinsCA) c.5397_5398delinsCA (p.Val1800Met) c.5328_5329delinsCA (p.Val1777Met) c.5196_5197delinsCA (p.Val1733Met) c.5229_5230delinsCA (p.Val1744Met) c.1620_1621delinsCA n.3279_3280delinsCA c.4051_4052delinsCA c.5256_5257delinsCA (p.Val1753Met) n.994_995delinsCA c.5199_5200delinsCA (p.Val1734Met) c.5265_5266delinsCA (p.Val1756Met) c.5190_5191delinsCA (p.Val1731Met) n.3045_3046delinsCA c.5322_5323delinsCA (p.Val1775Met) c.5268_5269delinsCA (p.Val1757Met) c.5283_5284delinsCA (p.Val1762Met) c.5193_5194delinsCA (p.Val1732Met) c.5318_5319delinsCA c.5391_5392delinsCA (p.Val1798Met) n.4212_4213delinsCA n.2649_2650delinsCA n.2620_2621delinsCA n.2510_2511delinsCA c.5052_5053delinsCA (p.Val1685Met) c.*4564_*4565delinsCA (n.*4564_*4565delinsCA) c.5088_5089delinsCA (p.Val1697Met) n.3120_3121delinsCA c.1579_1580delinsCA n.2512_2513delinsCA c.5451_5452delinsCA (p.Val1818Met) c.5448_5449delinsCA (p.Val1817Met) c.5340_5341delinsCA (p.Val1781Met) c.5319_5320delinsCA (p.Val1774Met) c.4665_4666delinsCA (p.Val1556Met) c.5613_5614delinsCA (p.Val1872Met) c.5361_5362delinsCA (p.Val1788Met) c.4107_4108delinsCA (p.Val1370Met) | ClinVar dbSNP |
16 | g.2088583_2088584delinsGG | CA2202034454 | TSC2 | c.*3746_*3747delinsGG (n.*3746_*3747delinsGG) c.5244_5245delinsGG (p.Ser1748=) c.5394_5395delinsGG (p.Ser1798=) c.*5910_*5911delinsGG (n.*5910_*5911delinsGG) c.*8146_*8147delinsGG (n.*8146_*8147delinsGG) c.5397_5398delinsGG (p.Ser1799=) c.5328_5329delinsGG (p.Ser1776=) c.5196_5197delinsGG (p.Ser1732=) c.5229_5230delinsGG (p.Ser1743=) c.1620_1621delinsGG n.3279_3280delinsGG c.4051_4052delinsGG c.5256_5257delinsGG (p.Ser1752=) n.994_995delinsGG c.5199_5200delinsGG (p.Ser1733=) c.5265_5266delinsGG (p.Ser1755=) c.5190_5191delinsGG (p.Ser1730=) n.3045_3046delinsGG c.5322_5323delinsGG (p.Ser1774=) c.5268_5269delinsGG (p.Ser1756=) c.5283_5284delinsGG (p.Ser1761=) c.5193_5194delinsGG (p.Ser1731=) c.5318_5319delinsGG c.5391_5392delinsGG (p.Ser1797=) n.4212_4213delinsGG n.2649_2650delinsGG n.2620_2621delinsGG n.2510_2511delinsGG c.5052_5053delinsGG (p.Ser1684=) c.*4564_*4565delinsGG (n.*4564_*4565delinsGG) c.5088_5089delinsGG (p.Ser1696=) n.3120_3121delinsGG c.1579_1580delinsGG n.2512_2513delinsGG c.5451_5452delinsGG (p.Ser1817=) c.5448_5449delinsGG (p.Ser1816=) c.5340_5341delinsGG (p.Ser1780=) c.5319_5320delinsGG (p.Ser1773=) c.4665_4666delinsGG (p.Ser1555=) c.5613_5614delinsGG (p.Ser1871=) c.5361_5362delinsGG (p.Ser1787=) c.4107_4108delinsGG (p.Ser1369=) | |
16 | g.2088585_2088587del | CA2697549446 | TSC2 | c.*3748_*3750del (n.*3748_*3750del) c.5246_5248del (p.Val1749del) c.5396_5398del (p.Val1799del) c.*5912_*5914del (n.*5912_*5914del) c.*8148_*8150del (n.*8148_*8150del) c.5399_5401del (p.Val1800del) c.5330_5332del (p.Val1777del) c.5198_5200del (p.Val1733del) c.5231_5233del (p.Val1744del) c.1622_1624del n.3281_3283del c.4053_4055del c.5258_5260del (p.Val1753del) n.996_998del c.5201_5203del (p.Val1734del) c.5267_5269del (p.Val1756del) c.5192_5194del (p.Val1731del) n.3047_3049del c.5324_5326del (p.Val1775del) c.5270_5272del (p.Val1757del) c.5285_5287del (p.Val1762del) c.5195_5197del (p.Val1732del) c.5320_5322del c.5393_5395del (p.Val1798del) n.4214_4216del n.2651_2653del n.2622_2624del n.2512_2514del c.5054_5056del (p.Val1685del) c.*4566_*4568del (n.*4566_*4568del) c.5090_5092del (p.Val1697del) n.3122_3124del c.1581_1583del n.2514_2516del c.5453_5455del (p.Val1818del) c.5450_5452del (p.Val1817del) c.5342_5344del (p.Val1781del) c.5321_5323del (p.Val1774del) c.4667_4669del (p.Val1556del) c.5615_5617del (p.Val1872del) c.5363_5365del (p.Val1788del) c.4109_4111del (p.Val1370del) | ClinVar |
16 | g.2088584G>A | CA394316137 | TSC2 | c.*3747G>A (n.*3747G>A) c.5245G>A (p.Val1749Met) c.5395G>A (p.Val1799Met) c.*5911G>A (n.*5911G>A) c.*8147G>A (n.*8147G>A) c.5398G>A (p.Val1800Met) c.5329G>A (p.Val1777Met) c.5197G>A (p.Val1733Met) c.5230G>A (p.Val1744Met) c.1621G>A n.3280G>A c.4052G>A c.5257G>A (p.Val1753Met) n.995G>A c.5200G>A (p.Val1734Met) c.5266G>A (p.Val1756Met) c.5191G>A (p.Val1731Met) n.3046G>A c.5323G>A (p.Val1775Met) c.5269G>A (p.Val1757Met) c.5284G>A (p.Val1762Met) c.5194G>A (p.Val1732Met) c.5319G>A c.5392G>A (p.Val1798Met) n.4213G>A n.2650G>A n.2621G>A n.2511G>A c.5053G>A (p.Val1685Met) c.*4565G>A (n.*4565G>A) c.5089G>A (p.Val1697Met) n.3121G>A c.1580G>A n.2513G>A c.5452G>A (p.Val1818Met) c.5449G>A (p.Val1817Met) c.5341G>A (p.Val1781Met) c.5320G>A (p.Val1774Met) c.4666G>A (p.Val1556Met) c.5614G>A (p.Val1872Met) c.5362G>A (p.Val1788Met) c.4108G>A (p.Val1370Met) | ClinVar dbSNP gnomAD v4 |
16 | g.2088584G>C | CA394316140 | TSC2 | c.*3747G>C (n.*3747G>C) c.5245G>C (p.Val1749Leu) c.5395G>C (p.Val1799Leu) c.*5911G>C (n.*5911G>C) c.*8147G>C (n.*8147G>C) c.5398G>C (p.Val1800Leu) c.5329G>C (p.Val1777Leu) c.5197G>C (p.Val1733Leu) c.5230G>C (p.Val1744Leu) c.1621G>C n.3280G>C c.4052G>C c.5257G>C (p.Val1753Leu) n.995G>C c.5200G>C (p.Val1734Leu) c.5266G>C (p.Val1756Leu) c.5191G>C (p.Val1731Leu) n.3046G>C c.5323G>C (p.Val1775Leu) c.5269G>C (p.Val1757Leu) c.5284G>C (p.Val1762Leu) c.5194G>C (p.Val1732Leu) c.5319G>C c.5392G>C (p.Val1798Leu) n.4213G>C n.2650G>C n.2621G>C n.2511G>C c.5053G>C (p.Val1685Leu) c.*4565G>C (n.*4565G>C) c.5089G>C (p.Val1697Leu) n.3121G>C c.1580G>C n.2513G>C c.5452G>C (p.Val1818Leu) c.5449G>C (p.Val1817Leu) c.5341G>C (p.Val1781Leu) c.5320G>C (p.Val1774Leu) c.4666G>C (p.Val1556Leu) c.5614G>C (p.Val1872Leu) c.5362G>C (p.Val1788Leu) c.4108G>C (p.Val1370Leu) | |
16 | g.2088584G>T | CA394316142 | TSC2 | c.*3747G>T (n.*3747G>T) c.5245G>T (p.Val1749Leu) c.5395G>T (p.Val1799Leu) c.*5911G>T (n.*5911G>T) c.*8147G>T (n.*8147G>T) c.5398G>T (p.Val1800Leu) c.5329G>T (p.Val1777Leu) c.5197G>T (p.Val1733Leu) c.5230G>T (p.Val1744Leu) c.1621G>T n.3280G>T c.4052G>T c.5257G>T (p.Val1753Leu) n.995G>T c.5200G>T (p.Val1734Leu) c.5266G>T (p.Val1756Leu) c.5191G>T (p.Val1731Leu) n.3046G>T c.5323G>T (p.Val1775Leu) c.5269G>T (p.Val1757Leu) c.5284G>T (p.Val1762Leu) c.5194G>T (p.Val1732Leu) c.5319G>T c.5392G>T (p.Val1798Leu) n.4213G>T n.2650G>T n.2621G>T n.2511G>T c.5053G>T (p.Val1685Leu) c.*4565G>T (n.*4565G>T) c.5089G>T (p.Val1697Leu) n.3121G>T c.1580G>T n.2513G>T c.5452G>T (p.Val1818Leu) c.5449G>T (p.Val1817Leu) c.5341G>T (p.Val1781Leu) c.5320G>T (p.Val1774Leu) c.4666G>T (p.Val1556Leu) c.5614G>T (p.Val1872Leu) c.5362G>T (p.Val1788Leu) c.4108G>T (p.Val1370Leu) | |
16 | g.2088585T>A | CA394316146 | TSC2 | c.*3748T>A (n.*3748T>A) c.5246T>A (p.Val1749Glu) c.5396T>A (p.Val1799Glu) c.*5912T>A (n.*5912T>A) c.*8148T>A (n.*8148T>A) c.5399T>A (p.Val1800Glu) c.5330T>A (p.Val1777Glu) c.5198T>A (p.Val1733Glu) c.5231T>A (p.Val1744Glu) c.1622T>A n.3281T>A c.4053T>A c.5258T>A (p.Val1753Glu) n.996T>A c.5201T>A (p.Val1734Glu) c.5267T>A (p.Val1756Glu) c.5192T>A (p.Val1731Glu) n.3047T>A c.5324T>A (p.Val1775Glu) c.5270T>A (p.Val1757Glu) c.5285T>A (p.Val1762Glu) c.5195T>A (p.Val1732Glu) c.5320T>A c.5393T>A (p.Val1798Glu) n.4214T>A n.2651T>A n.2622T>A n.2512T>A c.5054T>A (p.Val1685Glu) c.*4566T>A (n.*4566T>A) c.5090T>A (p.Val1697Glu) n.3122T>A c.1581T>A n.2514T>A c.5453T>A (p.Val1818Glu) c.5450T>A (p.Val1817Glu) c.5342T>A (p.Val1781Glu) c.5321T>A (p.Val1774Glu) c.4667T>A (p.Val1556Glu) c.5615T>A (p.Val1872Glu) c.5363T>A (p.Val1788Glu) c.4109T>A (p.Val1370Glu) | |
16 | g.2088585T>C | CA394316150 | TSC2 | c.*3748T>C (n.*3748T>C) c.5246T>C (p.Val1749Ala) c.5396T>C (p.Val1799Ala) c.*5912T>C (n.*5912T>C) c.*8148T>C (n.*8148T>C) c.5399T>C (p.Val1800Ala) c.5330T>C (p.Val1777Ala) c.5198T>C (p.Val1733Ala) c.5231T>C (p.Val1744Ala) c.1622T>C n.3281T>C c.4053T>C c.5258T>C (p.Val1753Ala) n.996T>C c.5201T>C (p.Val1734Ala) c.5267T>C (p.Val1756Ala) c.5192T>C (p.Val1731Ala) n.3047T>C c.5324T>C (p.Val1775Ala) c.5270T>C (p.Val1757Ala) c.5285T>C (p.Val1762Ala) c.5195T>C (p.Val1732Ala) c.5320T>C c.5393T>C (p.Val1798Ala) n.4214T>C n.2651T>C n.2622T>C n.2512T>C c.5054T>C (p.Val1685Ala) c.*4566T>C (n.*4566T>C) c.5090T>C (p.Val1697Ala) n.3122T>C c.1581T>C n.2514T>C c.5453T>C (p.Val1818Ala) c.5450T>C (p.Val1817Ala) c.5342T>C (p.Val1781Ala) c.5321T>C (p.Val1774Ala) c.4667T>C (p.Val1556Ala) c.5615T>C (p.Val1872Ala) c.5363T>C (p.Val1788Ala) c.4109T>C (p.Val1370Ala) | ClinVar dbSNP |
16 | g.2088585T>G | CA394316152 | TSC2 | c.*3748T>G (n.*3748T>G) c.5246T>G (p.Val1749Gly) c.5396T>G (p.Val1799Gly) c.*5912T>G (n.*5912T>G) c.*8148T>G (n.*8148T>G) c.5399T>G (p.Val1800Gly) c.5330T>G (p.Val1777Gly) c.5198T>G (p.Val1733Gly) c.5231T>G (p.Val1744Gly) c.1622T>G n.3281T>G c.4053T>G c.5258T>G (p.Val1753Gly) n.996T>G c.5201T>G (p.Val1734Gly) c.5267T>G (p.Val1756Gly) c.5192T>G (p.Val1731Gly) n.3047T>G c.5324T>G (p.Val1775Gly) c.5270T>G (p.Val1757Gly) c.5285T>G (p.Val1762Gly) c.5195T>G (p.Val1732Gly) c.5320T>G c.5393T>G (p.Val1798Gly) n.4214T>G n.2651T>G n.2622T>G n.2512T>G c.5054T>G (p.Val1685Gly) c.*4566T>G (n.*4566T>G) c.5090T>G (p.Val1697Gly) n.3122T>G c.1581T>G n.2514T>G c.5453T>G (p.Val1818Gly) c.5450T>G (p.Val1817Gly) c.5342T>G (p.Val1781Gly) c.5321T>G (p.Val1774Gly) c.4667T>G (p.Val1556Gly) c.5615T>G (p.Val1872Gly) c.5363T>G (p.Val1788Gly) c.4109T>G (p.Val1370Gly) | |
16 | g.2088585T= | CA2202034464 | TSC2 | c.*3748T= (n.*3748T=) c.5246T= (p.Val1749=) c.5396T= (p.Val1799=) c.*5912T= (n.*5912T=) c.*8148T= (n.*8148T=) c.5399T= (p.Val1800=) c.5330T= (p.Val1777=) c.5198T= (p.Val1733=) c.5231T= (p.Val1744=) c.1622T= n.3281T= c.4053T= c.5258T= (p.Val1753=) n.996T= c.5201T= (p.Val1734=) c.5267T= (p.Val1756=) c.5192T= (p.Val1731=) n.3047T= c.5324T= (p.Val1775=) c.5270T= (p.Val1757=) c.5285T= (p.Val1762=) c.5195T= (p.Val1732=) c.5320T= c.5393T= (p.Val1798=) n.4214T= n.2651T= n.2622T= n.2512T= c.5054T= (p.Val1685=) c.*4566T= (n.*4566T=) c.5090T= (p.Val1697=) n.3122T= c.1581T= n.2514T= c.5453T= (p.Val1818=) c.5450T= (p.Val1817=) c.5342T= (p.Val1781=) c.5321T= (p.Val1774=) c.4667T= (p.Val1556=) c.5615T= (p.Val1872=) c.5363T= (p.Val1788=) c.4109T= (p.Val1370=) | |
16 | g.2088585dup | CA2837995381 | TSC2 | c.*3748dup (n.*3748dup) c.5246dup (p.Glu1750GlyfsTer?) c.5396dup (p.Glu1800GlyfsTer?) c.*5912dup (n.*5912dup) c.*8148dup (n.*8148dup) c.5399dup (p.Glu1801GlyfsTer?) c.5330dup (p.Glu1778GlyfsTer?) c.5198dup (p.Glu1734GlyfsTer?) c.5231dup (p.Glu1745GlyfsTer?) c.1622dup n.3281dup c.4053dup c.5258dup (p.Glu1754GlyfsTer?) n.996dup c.5201dup (p.Glu1735GlyfsTer?) c.5267dup (p.Glu1757GlyfsTer?) c.5192dup (p.Glu1732GlyfsTer?) n.3047dup c.5324dup (p.Glu1776GlyfsTer?) c.5270dup (p.Glu1758GlyfsTer?) c.5285dup (p.Glu1763GlyfsTer?) c.5195dup (p.Glu1733GlyfsTer?) c.5320dup c.5393dup (p.Glu1799GlyfsTer?) n.4214dup n.2651dup n.2622dup n.2512dup c.5054dup (p.Glu1686GlyfsTer?) c.*4566dup (n.*4566dup) c.5090dup (p.Glu1698GlyfsTer?) n.3122dup c.1581dup n.2514dup c.5453dup (p.Glu1819GlyfsTer?) c.5450dup (p.Glu1818GlyfsTer?) c.5342dup (p.Glu1782GlyfsTer?) c.5321dup (p.Glu1775GlyfsTer?) c.4667dup (p.Glu1557GlyfsTer?) c.5615dup (p.Glu1873GlyfsTer?) c.5363dup (p.Glu1789GlyfsTer?) c.4109dup (p.Glu1371GlyfsTer?) | |
16 | g.2088586G>A | CA493043837 | TSC2 | c.*3749G>A (n.*3749G>A) c.5247G>A (p.Val1749=) c.5397G>A (p.Val1799=) c.*5913G>A (n.*5913G>A) c.*8149G>A (n.*8149G>A) c.5400G>A (p.Val1800=) c.5331G>A (p.Val1777=) c.5199G>A (p.Val1733=) c.5232G>A (p.Val1744=) c.1623G>A n.3282G>A c.4054G>A c.5259G>A (p.Val1753=) n.997G>A c.5202G>A (p.Val1734=) c.5268G>A (p.Val1756=) c.5193G>A (p.Val1731=) n.3048G>A c.5325G>A (p.Val1775=) c.5271G>A (p.Val1757=) c.5286G>A (p.Val1762=) c.5196G>A (p.Val1732=) c.5321G>A c.5394G>A (p.Val1798=) n.4215G>A n.2652G>A n.2623G>A n.2513G>A c.5055G>A (p.Val1685=) c.*4567G>A (n.*4567G>A) c.5091G>A (p.Val1697=) n.3123G>A c.1582G>A n.2515G>A c.5454G>A (p.Val1818=) c.5451G>A (p.Val1817=) c.5343G>A (p.Val1781=) c.5322G>A (p.Val1774=) c.4668G>A (p.Val1556=) c.5616G>A (p.Val1872=) c.5364G>A (p.Val1788=) c.4110G>A (p.Val1370=) | ClinVar dbSNP gnomAD v4 |
16 | g.2088586G>C | CA055318 | TSC2 | c.*3749G>C (n.*3749G>C) c.5247G>C (p.Val1749=) c.5397G>C (p.Val1799=) c.*5913G>C (n.*5913G>C) c.*8149G>C (n.*8149G>C) c.5400G>C (p.Val1800=) c.5331G>C (p.Val1777=) c.5199G>C (p.Val1733=) c.5232G>C (p.Val1744=) c.1623G>C n.3282G>C c.4054G>C c.5259G>C (p.Val1753=) n.997G>C c.5202G>C (p.Val1734=) c.5268G>C (p.Val1756=) c.5193G>C (p.Val1731=) n.3048G>C c.5325G>C (p.Val1775=) c.5271G>C (p.Val1757=) c.5286G>C (p.Val1762=) c.5196G>C (p.Val1732=) c.5321G>C c.5394G>C (p.Val1798=) n.4215G>C n.2652G>C n.2623G>C n.2513G>C c.5055G>C (p.Val1685=) c.*4567G>C (n.*4567G>C) c.5091G>C (p.Val1697=) n.3123G>C c.1582G>C n.2515G>C c.5454G>C (p.Val1818=) c.5451G>C (p.Val1817=) c.5343G>C (p.Val1781=) c.5322G>C (p.Val1774=) c.4668G>C (p.Val1556=) c.5616G>C (p.Val1872=) c.5364G>C (p.Val1788=) c.4110G>C (p.Val1370=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088586G= | CA2202034471 | TSC2 | c.*3749G= (n.*3749G=) c.5247G= (p.Val1749=) c.5397G= (p.Val1799=) c.*5913G= (n.*5913G=) c.*8149G= (n.*8149G=) c.5400G= (p.Val1800=) c.5331G= (p.Val1777=) c.5199G= (p.Val1733=) c.5232G= (p.Val1744=) c.1623G= n.3282G= c.4054G= c.5259G= (p.Val1753=) n.997G= c.5202G= (p.Val1734=) c.5268G= (p.Val1756=) c.5193G= (p.Val1731=) n.3048G= c.5325G= (p.Val1775=) c.5271G= (p.Val1757=) c.5286G= (p.Val1762=) c.5196G= (p.Val1732=) c.5321G= c.5394G= (p.Val1798=) n.4215G= n.2652G= n.2623G= n.2513G= c.5055G= (p.Val1685=) c.*4567G= (n.*4567G=) c.5091G= (p.Val1697=) n.3123G= c.1582G= n.2515G= c.5454G= (p.Val1818=) c.5451G= (p.Val1817=) c.5343G= (p.Val1781=) c.5322G= (p.Val1774=) c.4668G= (p.Val1556=) c.5616G= (p.Val1872=) c.5364G= (p.Val1788=) c.4110G= (p.Val1370=) | |
16 | g.2088586G>T | CA493043836 | TSC2 | c.*3749G>T (n.*3749G>T) c.5247G>T (p.Val1749=) c.5397G>T (p.Val1799=) c.*5913G>T (n.*5913G>T) c.*8149G>T (n.*8149G>T) c.5400G>T (p.Val1800=) c.5331G>T (p.Val1777=) c.5199G>T (p.Val1733=) c.5232G>T (p.Val1744=) c.1623G>T n.3282G>T c.4054G>T c.5259G>T (p.Val1753=) n.997G>T c.5202G>T (p.Val1734=) c.5268G>T (p.Val1756=) c.5193G>T (p.Val1731=) n.3048G>T c.5325G>T (p.Val1775=) c.5271G>T (p.Val1757=) c.5286G>T (p.Val1762=) c.5196G>T (p.Val1732=) c.5321G>T c.5394G>T (p.Val1798=) n.4215G>T n.2652G>T n.2623G>T n.2513G>T c.5055G>T (p.Val1685=) c.*4567G>T (n.*4567G>T) c.5091G>T (p.Val1697=) n.3123G>T c.1582G>T n.2515G>T c.5454G>T (p.Val1818=) c.5451G>T (p.Val1817=) c.5343G>T (p.Val1781=) c.5322G>T (p.Val1774=) c.4668G>T (p.Val1556=) c.5616G>T (p.Val1872=) c.5364G>T (p.Val1788=) c.4110G>T (p.Val1370=) | gnomAD v4 |
16 | g.2088587del | CA2805573973 | TSC2 | c.*3750del (n.*3750del) c.5248del (p.Glu1750ArgfsTer25) c.5398del (p.Glu1800ArgfsTer25) c.*5914del (n.*5914del) c.*8150del (n.*8150del) c.5401del (p.Glu1801ArgfsTer25) c.5332del (p.Glu1778ArgfsTer25) c.5200del (p.Glu1734ArgfsTer25) c.5233del (p.Glu1745ArgfsTer25) c.1624del n.3283del c.4055del c.5260del (p.Glu1754ArgfsTer25) n.998del c.5203del (p.Glu1735ArgfsTer25) c.5269del (p.Glu1757ArgfsTer25) c.5194del (p.Glu1732ArgfsTer25) n.3049del c.5326del (p.Glu1776ArgfsTer25) c.5272del (p.Glu1758ArgfsTer25) c.5287del (p.Glu1763ArgfsTer25) c.5197del (p.Glu1733ArgfsTer25) c.5322del c.5395del (p.Glu1799ArgfsTer25) n.4216del n.2653del n.2624del n.2514del c.5056del (p.Glu1686ArgfsTer25) c.*4568del (n.*4568del) c.5092del (p.Glu1698ArgfsTer25) n.3124del c.1583del n.2516del c.5455del (p.Glu1819ArgfsTer25) c.5452del (p.Glu1818ArgfsTer25) c.5344del (p.Glu1782ArgfsTer25) c.5323del (p.Glu1775ArgfsTer25) c.4669del (p.Glu1557ArgfsTer25) c.5617del (p.Glu1873ArgfsTer25) c.5365del (p.Glu1789ArgfsTer25) c.4111del (p.Glu1371ArgfsTer25) | |
16 | g.2088586_2088588delinsGGA | CA2202034469 | TSC2 | c.*3749_*3751delinsGGA (n.*3749_*3751delinsGGA) c.5247_5249delinsGGA (p.Val1749=) c.5397_5399delinsGGA (p.Val1799=) c.*5913_*5915delinsGGA (n.*5913_*5915delinsGGA) c.*8149_*8151delinsGGA (n.*8149_*8151delinsGGA) c.5400_5402delinsGGA (p.Val1800=) c.5331_5333delinsGGA (p.Val1777=) c.5199_5201delinsGGA (p.Val1733=) c.5232_5234delinsGGA (p.Val1744=) c.1623_1625delinsGGA n.3282_3284delinsGGA c.4054_4056delinsGGA c.5259_5261delinsGGA (p.Val1753=) n.997_999delinsGGA c.5202_5204delinsGGA (p.Val1734=) c.5268_5270delinsGGA (p.Val1756=) c.5193_5195delinsGGA (p.Val1731=) n.3048_3050delinsGGA c.5325_5327delinsGGA (p.Val1775=) c.5271_5273delinsGGA (p.Val1757=) c.5286_5288delinsGGA (p.Val1762=) c.5196_5198delinsGGA (p.Val1732=) c.5321_5323delinsGGA c.5394_5396delinsGGA (p.Val1798=) n.4215_4217delinsGGA n.2652_2654delinsGGA n.2623_2625delinsGGA n.2513_2515delinsGGA c.5055_5057delinsGGA (p.Val1685=) c.*4567_*4569delinsGGA (n.*4567_*4569delinsGGA) c.5091_5093delinsGGA (p.Val1697=) n.3123_3125delinsGGA c.1582_1584delinsGGA n.2515_2517delinsGGA c.5454_5456delinsGGA (p.Val1818=) c.5451_5453delinsGGA (p.Val1817=) c.5343_5345delinsGGA (p.Val1781=) c.5322_5324delinsGGA (p.Val1774=) c.4668_4670delinsGGA (p.Val1556=) c.5616_5618delinsGGA (p.Val1872=) c.5364_5366delinsGGA (p.Val1788=) c.4110_4112delinsGGA (p.Val1370=) | |
16 | g.2088589_2088591del | CA2580612730 | TSC2 | c.*3752_*3754del (n.*3752_*3754del) c.5250_5252del (p.Glu1750del) c.5400_5402del (p.Glu1800del) c.*5916_*5918del (n.*5916_*5918del) c.*8152_*8154del (n.*8152_*8154del) c.5403_5405del (p.Glu1801del) c.5334_5336del (p.Glu1778del) c.5202_5204del (p.Glu1734del) c.5235_5237del (p.Glu1745del) c.1626_1628del n.3285_3287del c.4057_4059del c.5262_5264del (p.Glu1754del) n.1000_1002del c.5205_5207del (p.Glu1735del) c.5271_5273del (p.Glu1757del) c.5196_5198del (p.Glu1732del) n.3051_3053del c.5328_5330del (p.Glu1776del) c.5274_5276del (p.Glu1758del) c.5289_5291del (p.Glu1763del) c.5199_5201del (p.Glu1733del) c.5324_5326del c.5397_5399del (p.Glu1799del) n.4218_4220del n.2655_2657del n.2626_2628del n.2516_2518del c.5058_5060del (p.Glu1686del) c.*4570_*4572del (n.*4570_*4572del) c.5094_5096del (p.Glu1698del) n.3126_3128del c.1585_1587del n.2518_2520del c.5457_5459del (p.Glu1819del) c.5454_5456del (p.Glu1818del) c.5346_5348del (p.Glu1782del) c.5325_5327del (p.Glu1775del) c.4671_4673del (p.Glu1557del) c.5619_5621del (p.Glu1873del) c.5367_5369del (p.Glu1789del) c.4113_4115del (p.Glu1371del) | ClinVar dbSNP |
16 | g.2088587G>A | CA394316159 | TSC2 | c.*3750G>A (n.*3750G>A) c.5248G>A (p.Glu1750Lys) c.5398G>A (p.Glu1800Lys) c.*5914G>A (n.*5914G>A) c.*8150G>A (n.*8150G>A) c.5401G>A (p.Glu1801Lys) c.5332G>A (p.Glu1778Lys) c.5200G>A (p.Glu1734Lys) c.5233G>A (p.Glu1745Lys) c.1624G>A n.3283G>A c.4055G>A c.5260G>A (p.Glu1754Lys) n.998G>A c.5203G>A (p.Glu1735Lys) c.5269G>A (p.Glu1757Lys) c.5194G>A (p.Glu1732Lys) n.3049G>A c.5326G>A (p.Glu1776Lys) c.5272G>A (p.Glu1758Lys) c.5287G>A (p.Glu1763Lys) c.5197G>A (p.Glu1733Lys) c.5322G>A c.5395G>A (p.Glu1799Lys) n.4216G>A n.2653G>A n.2624G>A n.2514G>A c.5056G>A (p.Glu1686Lys) c.*4568G>A (n.*4568G>A) c.5092G>A (p.Glu1698Lys) n.3124G>A c.1583G>A n.2516G>A c.5455G>A (p.Glu1819Lys) c.5452G>A (p.Glu1818Lys) c.5344G>A (p.Glu1782Lys) c.5323G>A (p.Glu1775Lys) c.4669G>A (p.Glu1557Lys) c.5617G>A (p.Glu1873Lys) c.5365G>A (p.Glu1789Lys) c.4111G>A (p.Glu1371Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088587G>C | CA394316167 | TSC2 | c.*3750G>C (n.*3750G>C) c.5248G>C (p.Glu1750Gln) c.5398G>C (p.Glu1800Gln) c.*5914G>C (n.*5914G>C) c.*8150G>C (n.*8150G>C) c.5401G>C (p.Glu1801Gln) c.5332G>C (p.Glu1778Gln) c.5200G>C (p.Glu1734Gln) c.5233G>C (p.Glu1745Gln) c.1624G>C n.3283G>C c.4055G>C c.5260G>C (p.Glu1754Gln) n.998G>C c.5203G>C (p.Glu1735Gln) c.5269G>C (p.Glu1757Gln) c.5194G>C (p.Glu1732Gln) n.3049G>C c.5326G>C (p.Glu1776Gln) c.5272G>C (p.Glu1758Gln) c.5287G>C (p.Glu1763Gln) c.5197G>C (p.Glu1733Gln) c.5322G>C c.5395G>C (p.Glu1799Gln) n.4216G>C n.2653G>C n.2624G>C n.2514G>C c.5056G>C (p.Glu1686Gln) c.*4568G>C (n.*4568G>C) c.5092G>C (p.Glu1698Gln) n.3124G>C c.1583G>C n.2516G>C c.5455G>C (p.Glu1819Gln) c.5452G>C (p.Glu1818Gln) c.5344G>C (p.Glu1782Gln) c.5323G>C (p.Glu1775Gln) c.4669G>C (p.Glu1557Gln) c.5617G>C (p.Glu1873Gln) c.5365G>C (p.Glu1789Gln) c.4111G>C (p.Glu1371Gln) | |
16 | g.2088587G= | CA2202034480 | TSC2 | c.*3750G= (n.*3750G=) c.5248G= (p.Glu1750=) c.5398G= (p.Glu1800=) c.*5914G= (n.*5914G=) c.*8150G= (n.*8150G=) c.5401G= (p.Glu1801=) c.5332G= (p.Glu1778=) c.5200G= (p.Glu1734=) c.5233G= (p.Glu1745=) c.1624G= n.3283G= c.4055G= c.5260G= (p.Glu1754=) n.998G= c.5203G= (p.Glu1735=) c.5269G= (p.Glu1757=) c.5194G= (p.Glu1732=) n.3049G= c.5326G= (p.Glu1776=) c.5272G= (p.Glu1758=) c.5287G= (p.Glu1763=) c.5197G= (p.Glu1733=) c.5322G= c.5395G= (p.Glu1799=) n.4216G= n.2653G= n.2624G= n.2514G= c.5056G= (p.Glu1686=) c.*4568G= (n.*4568G=) c.5092G= (p.Glu1698=) n.3124G= c.1583G= n.2516G= c.5455G= (p.Glu1819=) c.5452G= (p.Glu1818=) c.5344G= (p.Glu1782=) c.5323G= (p.Glu1775=) c.4669G= (p.Glu1557=) c.5617G= (p.Glu1873=) c.5365G= (p.Glu1789=) c.4111G= (p.Glu1371=) | |
16 | g.2088587G>T | CA394316164 | TSC2 | c.*3750G>T (n.*3750G>T) c.5248G>T (p.Glu1750Ter) c.5398G>T (p.Glu1800Ter) c.*5914G>T (n.*5914G>T) c.*8150G>T (n.*8150G>T) c.5401G>T (p.Glu1801Ter) c.5332G>T (p.Glu1778Ter) c.5200G>T (p.Glu1734Ter) c.5233G>T (p.Glu1745Ter) c.1624G>T n.3283G>T c.4055G>T c.5260G>T (p.Glu1754Ter) n.998G>T c.5203G>T (p.Glu1735Ter) c.5269G>T (p.Glu1757Ter) c.5194G>T (p.Glu1732Ter) n.3049G>T c.5326G>T (p.Glu1776Ter) c.5272G>T (p.Glu1758Ter) c.5287G>T (p.Glu1763Ter) c.5197G>T (p.Glu1733Ter) c.5322G>T c.5395G>T (p.Glu1799Ter) n.4216G>T n.2653G>T n.2624G>T n.2514G>T c.5056G>T (p.Glu1686Ter) c.*4568G>T (n.*4568G>T) c.5092G>T (p.Glu1698Ter) n.3124G>T c.1583G>T n.2516G>T c.5455G>T (p.Glu1819Ter) c.5452G>T (p.Glu1818Ter) c.5344G>T (p.Glu1782Ter) c.5323G>T (p.Glu1775Ter) c.4669G>T (p.Glu1557Ter) c.5617G>T (p.Glu1873Ter) c.5365G>T (p.Glu1789Ter) c.4111G>T (p.Glu1371Ter) | gnomAD v4 |
16 | g.2088587_2088588delinsTT | CA2580091209 | TSC2 | c.*3750_*3751delinsTT (n.*3750_*3751delinsTT) c.5248_5249delinsTT (p.Glu1750Leu) c.5398_5399delinsTT (p.Glu1800Leu) c.*5914_*5915delinsTT (n.*5914_*5915delinsTT) c.*8150_*8151delinsTT (n.*8150_*8151delinsTT) c.5401_5402delinsTT (p.Glu1801Leu) c.5332_5333delinsTT (p.Glu1778Leu) c.5200_5201delinsTT (p.Glu1734Leu) c.5233_5234delinsTT (p.Glu1745Leu) c.1624_1625delinsTT n.3283_3284delinsTT c.4055_4056delinsTT c.5260_5261delinsTT (p.Glu1754Leu) n.998_999delinsTT c.5203_5204delinsTT (p.Glu1735Leu) c.5269_5270delinsTT (p.Glu1757Leu) c.5194_5195delinsTT (p.Glu1732Leu) n.3049_3050delinsTT c.5326_5327delinsTT (p.Glu1776Leu) c.5272_5273delinsTT (p.Glu1758Leu) c.5287_5288delinsTT (p.Glu1763Leu) c.5197_5198delinsTT (p.Glu1733Leu) c.5322_5323delinsTT c.5395_5396delinsTT (p.Glu1799Leu) n.4216_4217delinsTT n.2653_2654delinsTT n.2624_2625delinsTT n.2514_2515delinsTT c.5056_5057delinsTT (p.Glu1686Leu) c.*4568_*4569delinsTT (n.*4568_*4569delinsTT) c.5092_5093delinsTT (p.Glu1698Leu) n.3124_3125delinsTT c.1583_1584delinsTT n.2516_2517delinsTT c.5455_5456delinsTT (p.Glu1819Leu) c.5452_5453delinsTT (p.Glu1818Leu) c.5344_5345delinsTT (p.Glu1782Leu) c.5323_5324delinsTT (p.Glu1775Leu) c.4669_4670delinsTT (p.Glu1557Leu) c.5617_5618delinsTT (p.Glu1873Leu) c.5365_5366delinsTT (p.Glu1789Leu) c.4111_4112delinsTT (p.Glu1371Leu) | ClinVar |
16 | g.2088588_2088589del | CA022480 | TSC2 | c.*3751_*3752del (n.*3751_*3752del) c.5249_5250del (p.Glu1750GlyfsTer?) c.5399_5400del (p.Glu1800GlyfsTer?) c.*5915_*5916del (n.*5915_*5916del) c.*8151_*8152del (n.*8151_*8152del) c.5402_5403del (p.Glu1801GlyfsTer?) c.5333_5334del (p.Glu1778GlyfsTer?) c.5201_5202del (p.Glu1734GlyfsTer?) c.5234_5235del (p.Glu1745GlyfsTer?) c.1625_1626del n.3284_3285del c.4056_4057del c.5261_5262del (p.Glu1754GlyfsTer?) n.999_1000del c.5204_5205del (p.Glu1735GlyfsTer?) c.5270_5271del (p.Glu1757GlyfsTer?) c.5195_5196del (p.Glu1732GlyfsTer?) n.3050_3051del c.5327_5328del (p.Glu1776GlyfsTer?) c.5273_5274del (p.Glu1758GlyfsTer?) c.5288_5289del (p.Glu1763GlyfsTer?) c.5198_5199del (p.Glu1733GlyfsTer?) c.5323_5324del c.5396_5397del (p.Glu1799GlyfsTer?) n.4217_4218del n.2654_2655del n.2625_2626del n.2515_2516del c.5057_5058del (p.Glu1686GlyfsTer?) c.*4569_*4570del (n.*4569_*4570del) c.5093_5094del (p.Glu1698GlyfsTer?) n.3125_3126del c.1584_1585del n.2517_2518del c.5456_5457del (p.Glu1819GlyfsTer?) c.5453_5454del (p.Glu1818GlyfsTer?) c.5345_5346del (p.Glu1782GlyfsTer?) c.5324_5325del (p.Glu1775GlyfsTer?) c.4670_4671del (p.Glu1557GlyfsTer?) c.5618_5619del (p.Glu1873GlyfsTer?) c.5366_5367del (p.Glu1789GlyfsTer?) c.4112_4113del (p.Glu1371GlyfsTer?) | ClinVar dbSNP |
16 | g.2088588A>C | CA394316170 | TSC2 | c.*3751A>C (n.*3751A>C) c.5249A>C (p.Glu1750Ala) c.5399A>C (p.Glu1800Ala) c.*5915A>C (n.*5915A>C) c.*8151A>C (n.*8151A>C) c.5402A>C (p.Glu1801Ala) c.5333A>C (p.Glu1778Ala) c.5201A>C (p.Glu1734Ala) c.5234A>C (p.Glu1745Ala) c.1625A>C n.3284A>C c.4056A>C c.5261A>C (p.Glu1754Ala) n.999A>C c.5204A>C (p.Glu1735Ala) c.5270A>C (p.Glu1757Ala) c.5195A>C (p.Glu1732Ala) n.3050A>C c.5327A>C (p.Glu1776Ala) c.5273A>C (p.Glu1758Ala) c.5288A>C (p.Glu1763Ala) c.5198A>C (p.Glu1733Ala) c.5323A>C c.5396A>C (p.Glu1799Ala) n.4217A>C n.2654A>C n.2625A>C n.2515A>C c.5057A>C (p.Glu1686Ala) c.*4569A>C (n.*4569A>C) c.5093A>C (p.Glu1698Ala) n.3125A>C c.1584A>C n.2517A>C c.5456A>C (p.Glu1819Ala) c.5453A>C (p.Glu1818Ala) c.5345A>C (p.Glu1782Ala) c.5324A>C (p.Glu1775Ala) c.4670A>C (p.Glu1557Ala) c.5618A>C (p.Glu1873Ala) c.5366A>C (p.Glu1789Ala) c.4112A>C (p.Glu1371Ala) | |
16 | g.2088588A>G | CA394316174 | TSC2 | c.*3751A>G (n.*3751A>G) c.5249A>G (p.Glu1750Gly) c.5399A>G (p.Glu1800Gly) c.*5915A>G (n.*5915A>G) c.*8151A>G (n.*8151A>G) c.5402A>G (p.Glu1801Gly) c.5333A>G (p.Glu1778Gly) c.5201A>G (p.Glu1734Gly) c.5234A>G (p.Glu1745Gly) c.1625A>G n.3284A>G c.4056A>G c.5261A>G (p.Glu1754Gly) n.999A>G c.5204A>G (p.Glu1735Gly) c.5270A>G (p.Glu1757Gly) c.5195A>G (p.Glu1732Gly) n.3050A>G c.5327A>G (p.Glu1776Gly) c.5273A>G (p.Glu1758Gly) c.5288A>G (p.Glu1763Gly) c.5198A>G (p.Glu1733Gly) c.5323A>G c.5396A>G (p.Glu1799Gly) n.4217A>G n.2654A>G n.2625A>G n.2515A>G c.5057A>G (p.Glu1686Gly) c.*4569A>G (n.*4569A>G) c.5093A>G (p.Glu1698Gly) n.3125A>G c.1584A>G n.2517A>G c.5456A>G (p.Glu1819Gly) c.5453A>G (p.Glu1818Gly) c.5345A>G (p.Glu1782Gly) c.5324A>G (p.Glu1775Gly) c.4670A>G (p.Glu1557Gly) c.5618A>G (p.Glu1873Gly) c.5366A>G (p.Glu1789Gly) c.4112A>G (p.Glu1371Gly) | dbSNP |
16 | g.2088588A>T | CA394316176 | TSC2 | c.*3751A>T (n.*3751A>T) c.5249A>T (p.Glu1750Val) c.5399A>T (p.Glu1800Val) c.*5915A>T (n.*5915A>T) c.*8151A>T (n.*8151A>T) c.5402A>T (p.Glu1801Val) c.5333A>T (p.Glu1778Val) c.5201A>T (p.Glu1734Val) c.5234A>T (p.Glu1745Val) c.1625A>T n.3284A>T c.4056A>T c.5261A>T (p.Glu1754Val) n.999A>T c.5204A>T (p.Glu1735Val) c.5270A>T (p.Glu1757Val) c.5195A>T (p.Glu1732Val) n.3050A>T c.5327A>T (p.Glu1776Val) c.5273A>T (p.Glu1758Val) c.5288A>T (p.Glu1763Val) c.5198A>T (p.Glu1733Val) c.5323A>T c.5396A>T (p.Glu1799Val) n.4217A>T n.2654A>T n.2625A>T n.2515A>T c.5057A>T (p.Glu1686Val) c.*4569A>T (n.*4569A>T) c.5093A>T (p.Glu1698Val) n.3125A>T c.1584A>T n.2517A>T c.5456A>T (p.Glu1819Val) c.5453A>T (p.Glu1818Val) c.5345A>T (p.Glu1782Val) c.5324A>T (p.Glu1775Val) c.4670A>T (p.Glu1557Val) c.5618A>T (p.Glu1873Val) c.5366A>T (p.Glu1789Val) c.4112A>T (p.Glu1371Val) | |
16 | g.2088589G>A | CA493043841 | TSC2 | c.*3752G>A (n.*3752G>A) c.5250G>A (p.Glu1750=) c.5400G>A (p.Glu1800=) c.*5916G>A (n.*5916G>A) c.*8152G>A (n.*8152G>A) c.5403G>A (p.Glu1801=) c.5334G>A (p.Glu1778=) c.5202G>A (p.Glu1734=) c.5235G>A (p.Glu1745=) c.1626G>A n.3285G>A c.4057G>A c.5262G>A (p.Glu1754=) n.1000G>A c.5205G>A (p.Glu1735=) c.5271G>A (p.Glu1757=) c.5196G>A (p.Glu1732=) n.3051G>A c.5328G>A (p.Glu1776=) c.5274G>A (p.Glu1758=) c.5289G>A (p.Glu1763=) c.5199G>A (p.Glu1733=) c.5324G>A c.5397G>A (p.Glu1799=) n.4218G>A n.2655G>A n.2626G>A n.2516G>A c.5058G>A (p.Glu1686=) c.*4570G>A (n.*4570G>A) c.5094G>A (p.Glu1698=) n.3126G>A c.1585G>A n.2518G>A c.5457G>A (p.Glu1819=) c.5454G>A (p.Glu1818=) c.5346G>A (p.Glu1782=) c.5325G>A (p.Glu1775=) c.4671G>A (p.Glu1557=) c.5619G>A (p.Glu1873=) c.5367G>A (p.Glu1789=) c.4113G>A (p.Glu1371=) | ClinVar dbSNP gnomAD v4 |
16 | g.2088589G>C | CA394316180 | TSC2 | c.*3752G>C (n.*3752G>C) c.5250G>C (p.Glu1750Asp) c.5400G>C (p.Glu1800Asp) c.*5916G>C (n.*5916G>C) c.*8152G>C (n.*8152G>C) c.5403G>C (p.Glu1801Asp) c.5334G>C (p.Glu1778Asp) c.5202G>C (p.Glu1734Asp) c.5235G>C (p.Glu1745Asp) c.1626G>C n.3285G>C c.4057G>C c.5262G>C (p.Glu1754Asp) n.1000G>C c.5205G>C (p.Glu1735Asp) c.5271G>C (p.Glu1757Asp) c.5196G>C (p.Glu1732Asp) n.3051G>C c.5328G>C (p.Glu1776Asp) c.5274G>C (p.Glu1758Asp) c.5289G>C (p.Glu1763Asp) c.5199G>C (p.Glu1733Asp) c.5324G>C c.5397G>C (p.Glu1799Asp) n.4218G>C n.2655G>C n.2626G>C n.2516G>C c.5058G>C (p.Glu1686Asp) c.*4570G>C (n.*4570G>C) c.5094G>C (p.Glu1698Asp) n.3126G>C c.1585G>C n.2518G>C c.5457G>C (p.Glu1819Asp) c.5454G>C (p.Glu1818Asp) c.5346G>C (p.Glu1782Asp) c.5325G>C (p.Glu1775Asp) c.4671G>C (p.Glu1557Asp) c.5619G>C (p.Glu1873Asp) c.5367G>C (p.Glu1789Asp) c.4113G>C (p.Glu1371Asp) | |
16 | g.2088589G= | CA2202034492 | TSC2 | c.*3752G= (n.*3752G=) c.5250G= (p.Glu1750=) c.5400G= (p.Glu1800=) c.*5916G= (n.*5916G=) c.*8152G= (n.*8152G=) c.5403G= (p.Glu1801=) c.5334G= (p.Glu1778=) c.5202G= (p.Glu1734=) c.5235G= (p.Glu1745=) c.1626G= n.3285G= c.4057G= c.5262G= (p.Glu1754=) n.1000G= c.5205G= (p.Glu1735=) c.5271G= (p.Glu1757=) c.5196G= (p.Glu1732=) n.3051G= c.5328G= (p.Glu1776=) c.5274G= (p.Glu1758=) c.5289G= (p.Glu1763=) c.5199G= (p.Glu1733=) c.5324G= c.5397G= (p.Glu1799=) n.4218G= n.2655G= n.2626G= n.2516G= c.5058G= (p.Glu1686=) c.*4570G= (n.*4570G=) c.5094G= (p.Glu1698=) n.3126G= c.1585G= n.2518G= c.5457G= (p.Glu1819=) c.5454G= (p.Glu1818=) c.5346G= (p.Glu1782=) c.5325G= (p.Glu1775=) c.4671G= (p.Glu1557=) c.5619G= (p.Glu1873=) c.5367G= (p.Glu1789=) c.4113G= (p.Glu1371=) | |
16 | g.2088589G>T | CA16615209 | TSC2 | c.*3752G>T (n.*3752G>T) c.5250G>T (p.Glu1750Asp) c.5400G>T (p.Glu1800Asp) c.*5916G>T (n.*5916G>T) c.*8152G>T (n.*8152G>T) c.5403G>T (p.Glu1801Asp) c.5334G>T (p.Glu1778Asp) c.5202G>T (p.Glu1734Asp) c.5235G>T (p.Glu1745Asp) c.1626G>T n.3285G>T c.4057G>T c.5262G>T (p.Glu1754Asp) n.1000G>T c.5205G>T (p.Glu1735Asp) c.5271G>T (p.Glu1757Asp) c.5196G>T (p.Glu1732Asp) n.3051G>T c.5328G>T (p.Glu1776Asp) c.5274G>T (p.Glu1758Asp) c.5289G>T (p.Glu1763Asp) c.5199G>T (p.Glu1733Asp) c.5324G>T c.5397G>T (p.Glu1799Asp) n.4218G>T n.2655G>T n.2626G>T n.2516G>T c.5058G>T (p.Glu1686Asp) c.*4570G>T (n.*4570G>T) c.5094G>T (p.Glu1698Asp) n.3126G>T c.1585G>T n.2518G>T c.5457G>T (p.Glu1819Asp) c.5454G>T (p.Glu1818Asp) c.5346G>T (p.Glu1782Asp) c.5325G>T (p.Glu1775Asp) c.4671G>T (p.Glu1557Asp) c.5619G>T (p.Glu1873Asp) c.5367G>T (p.Glu1789Asp) c.4113G>T (p.Glu1371Asp) | ClinVar dbSNP |
16 | g.2088590G>A | CA394316182 | TSC2 | c.*3753G>A (n.*3753G>A) c.5251G>A (p.Asp1751Asn) c.5401G>A (p.Asp1801Asn) c.*5917G>A (n.*5917G>A) c.*8153G>A (n.*8153G>A) c.5404G>A (p.Asp1802Asn) c.5335G>A (p.Asp1779Asn) c.5203G>A (p.Asp1735Asn) c.5236G>A (p.Asp1746Asn) c.1627G>A n.3286G>A c.4058G>A c.5263G>A (p.Asp1755Asn) n.1001G>A c.5206G>A (p.Asp1736Asn) c.5272G>A (p.Asp1758Asn) c.5197G>A (p.Asp1733Asn) n.3052G>A c.5329G>A (p.Asp1777Asn) c.5275G>A (p.Asp1759Asn) c.5290G>A (p.Asp1764Asn) c.5200G>A (p.Asp1734Asn) c.5325G>A c.5398G>A (p.Asp1800Asn) n.4219G>A n.2656G>A n.2627G>A n.2517G>A c.5059G>A (p.Asp1687Asn) c.*4571G>A (n.*4571G>A) c.5095G>A (p.Asp1699Asn) n.3127G>A c.1586G>A n.2519G>A c.5458G>A (p.Asp1820Asn) c.5455G>A (p.Asp1819Asn) c.5347G>A (p.Asp1783Asn) c.5326G>A (p.Asp1776Asn) c.4672G>A (p.Asp1558Asn) c.5620G>A (p.Asp1874Asn) c.5368G>A (p.Asp1790Asn) c.4114G>A (p.Asp1372Asn) | ClinVar dbSNP |
16 | g.2088590G>C | CA394316184 | TSC2 | c.*3753G>C (n.*3753G>C) c.5251G>C (p.Asp1751His) c.5401G>C (p.Asp1801His) c.*5917G>C (n.*5917G>C) c.*8153G>C (n.*8153G>C) c.5404G>C (p.Asp1802His) c.5335G>C (p.Asp1779His) c.5203G>C (p.Asp1735His) c.5236G>C (p.Asp1746His) c.1627G>C n.3286G>C c.4058G>C c.5263G>C (p.Asp1755His) n.1001G>C c.5206G>C (p.Asp1736His) c.5272G>C (p.Asp1758His) c.5197G>C (p.Asp1733His) n.3052G>C c.5329G>C (p.Asp1777His) c.5275G>C (p.Asp1759His) c.5290G>C (p.Asp1764His) c.5200G>C (p.Asp1734His) c.5325G>C c.5398G>C (p.Asp1800His) n.4219G>C n.2656G>C n.2627G>C n.2517G>C c.5059G>C (p.Asp1687His) c.*4571G>C (n.*4571G>C) c.5095G>C (p.Asp1699His) n.3127G>C c.1586G>C n.2519G>C c.5458G>C (p.Asp1820His) c.5455G>C (p.Asp1819His) c.5347G>C (p.Asp1783His) c.5326G>C (p.Asp1776His) c.4672G>C (p.Asp1558His) c.5620G>C (p.Asp1874His) c.5368G>C (p.Asp1790His) c.4114G>C (p.Asp1372His) | |
16 | g.2088590G= | CA2202034501 | TSC2 | c.*3753G= (n.*3753G=) c.5251G= (p.Asp1751=) c.5401G= (p.Asp1801=) c.*5917G= (n.*5917G=) c.*8153G= (n.*8153G=) c.5404G= (p.Asp1802=) c.5335G= (p.Asp1779=) c.5203G= (p.Asp1735=) c.5236G= (p.Asp1746=) c.1627G= n.3286G= c.4058G= c.5263G= (p.Asp1755=) n.1001G= c.5206G= (p.Asp1736=) c.5272G= (p.Asp1758=) c.5197G= (p.Asp1733=) n.3052G= c.5329G= (p.Asp1777=) c.5275G= (p.Asp1759=) c.5290G= (p.Asp1764=) c.5200G= (p.Asp1734=) c.5325G= c.5398G= (p.Asp1800=) n.4219G= n.2656G= n.2627G= n.2517G= c.5059G= (p.Asp1687=) c.*4571G= (n.*4571G=) c.5095G= (p.Asp1699=) n.3127G= c.1586G= n.2519G= c.5458G= (p.Asp1820=) c.5455G= (p.Asp1819=) c.5347G= (p.Asp1783=) c.5326G= (p.Asp1776=) c.4672G= (p.Asp1558=) c.5620G= (p.Asp1874=) c.5368G= (p.Asp1790=) c.4114G= (p.Asp1372=) | |
16 | g.2088590G>T | CA394316187 | TSC2 | c.*3753G>T (n.*3753G>T) c.5251G>T (p.Asp1751Tyr) c.5401G>T (p.Asp1801Tyr) c.*5917G>T (n.*5917G>T) c.*8153G>T (n.*8153G>T) c.5404G>T (p.Asp1802Tyr) c.5335G>T (p.Asp1779Tyr) c.5203G>T (p.Asp1735Tyr) c.5236G>T (p.Asp1746Tyr) c.1627G>T n.3286G>T c.4058G>T c.5263G>T (p.Asp1755Tyr) n.1001G>T c.5206G>T (p.Asp1736Tyr) c.5272G>T (p.Asp1758Tyr) c.5197G>T (p.Asp1733Tyr) n.3052G>T c.5329G>T (p.Asp1777Tyr) c.5275G>T (p.Asp1759Tyr) c.5290G>T (p.Asp1764Tyr) c.5200G>T (p.Asp1734Tyr) c.5325G>T c.5398G>T (p.Asp1800Tyr) n.4219G>T n.2656G>T n.2627G>T n.2517G>T c.5059G>T (p.Asp1687Tyr) c.*4571G>T (n.*4571G>T) c.5095G>T (p.Asp1699Tyr) n.3127G>T c.1586G>T n.2519G>T c.5458G>T (p.Asp1820Tyr) c.5455G>T (p.Asp1819Tyr) c.5347G>T (p.Asp1783Tyr) c.5326G>T (p.Asp1776Tyr) c.4672G>T (p.Asp1558Tyr) c.5620G>T (p.Asp1874Tyr) c.5368G>T (p.Asp1790Tyr) c.4114G>T (p.Asp1372Tyr) | ClinVar gnomAD v4 |
16 | g.2088591A= | CA2202034510 | TSC2 | c.*3754A= (n.*3754A=) c.5252A= (p.Asp1751=) c.5402A= (p.Asp1801=) c.*5918A= (n.*5918A=) c.*8154A= (n.*8154A=) c.5405A= (p.Asp1802=) c.5336A= (p.Asp1779=) c.5204A= (p.Asp1735=) c.5237A= (p.Asp1746=) c.1628A= n.3287A= c.4059A= c.5264A= (p.Asp1755=) n.1002A= c.5207A= (p.Asp1736=) c.5273A= (p.Asp1758=) c.5198A= (p.Asp1733=) n.3053A= c.5330A= (p.Asp1777=) c.5276A= (p.Asp1759=) c.5291A= (p.Asp1764=) c.5201A= (p.Asp1734=) c.5326A= c.5399A= (p.Asp1800=) n.4220A= n.2657A= n.2628A= n.2518A= c.5060A= (p.Asp1687=) c.*4572A= (n.*4572A=) c.5096A= (p.Asp1699=) n.3128A= c.1587A= n.2520A= c.5459A= (p.Asp1820=) c.5456A= (p.Asp1819=) c.5348A= (p.Asp1783=) c.5327A= (p.Asp1776=) c.4673A= (p.Asp1558=) c.5621A= (p.Asp1874=) c.5369A= (p.Asp1790=) c.4115A= (p.Asp1372=) | |
16 | g.2088591A>C | CA394316190 | TSC2 | c.*3754A>C (n.*3754A>C) c.5252A>C (p.Asp1751Ala) c.5402A>C (p.Asp1801Ala) c.*5918A>C (n.*5918A>C) c.*8154A>C (n.*8154A>C) c.5405A>C (p.Asp1802Ala) c.5336A>C (p.Asp1779Ala) c.5204A>C (p.Asp1735Ala) c.5237A>C (p.Asp1746Ala) c.1628A>C n.3287A>C c.4059A>C c.5264A>C (p.Asp1755Ala) n.1002A>C c.5207A>C (p.Asp1736Ala) c.5273A>C (p.Asp1758Ala) c.5198A>C (p.Asp1733Ala) n.3053A>C c.5330A>C (p.Asp1777Ala) c.5276A>C (p.Asp1759Ala) c.5291A>C (p.Asp1764Ala) c.5201A>C (p.Asp1734Ala) c.5326A>C c.5399A>C (p.Asp1800Ala) n.4220A>C n.2657A>C n.2628A>C n.2518A>C c.5060A>C (p.Asp1687Ala) c.*4572A>C (n.*4572A>C) c.5096A>C (p.Asp1699Ala) n.3128A>C c.1587A>C n.2520A>C c.5459A>C (p.Asp1820Ala) c.5456A>C (p.Asp1819Ala) c.5348A>C (p.Asp1783Ala) c.5327A>C (p.Asp1776Ala) c.4673A>C (p.Asp1558Ala) c.5621A>C (p.Asp1874Ala) c.5369A>C (p.Asp1790Ala) c.4115A>C (p.Asp1372Ala) | ClinVar dbSNP |
16 | g.2088591A>G | CA394316193 | TSC2 | c.*3754A>G (n.*3754A>G) c.5252A>G (p.Asp1751Gly) c.5402A>G (p.Asp1801Gly) c.*5918A>G (n.*5918A>G) c.*8154A>G (n.*8154A>G) c.5405A>G (p.Asp1802Gly) c.5336A>G (p.Asp1779Gly) c.5204A>G (p.Asp1735Gly) c.5237A>G (p.Asp1746Gly) c.1628A>G n.3287A>G c.4059A>G c.5264A>G (p.Asp1755Gly) n.1002A>G c.5207A>G (p.Asp1736Gly) c.5273A>G (p.Asp1758Gly) c.5198A>G (p.Asp1733Gly) n.3053A>G c.5330A>G (p.Asp1777Gly) c.5276A>G (p.Asp1759Gly) c.5291A>G (p.Asp1764Gly) c.5201A>G (p.Asp1734Gly) c.5326A>G c.5399A>G (p.Asp1800Gly) n.4220A>G n.2657A>G n.2628A>G n.2518A>G c.5060A>G (p.Asp1687Gly) c.*4572A>G (n.*4572A>G) c.5096A>G (p.Asp1699Gly) n.3128A>G c.1587A>G n.2520A>G c.5459A>G (p.Asp1820Gly) c.5456A>G (p.Asp1819Gly) c.5348A>G (p.Asp1783Gly) c.5327A>G (p.Asp1776Gly) c.4673A>G (p.Asp1558Gly) c.5621A>G (p.Asp1874Gly) c.5369A>G (p.Asp1790Gly) c.4115A>G (p.Asp1372Gly) | |
16 | g.2088591A>T | CA394316195 | TSC2 | c.*3754A>T (n.*3754A>T) c.5252A>T (p.Asp1751Val) c.5402A>T (p.Asp1801Val) c.*5918A>T (n.*5918A>T) c.*8154A>T (n.*8154A>T) c.5405A>T (p.Asp1802Val) c.5336A>T (p.Asp1779Val) c.5204A>T (p.Asp1735Val) c.5237A>T (p.Asp1746Val) c.1628A>T n.3287A>T c.4059A>T c.5264A>T (p.Asp1755Val) n.1002A>T c.5207A>T (p.Asp1736Val) c.5273A>T (p.Asp1758Val) c.5198A>T (p.Asp1733Val) n.3053A>T c.5330A>T (p.Asp1777Val) c.5276A>T (p.Asp1759Val) c.5291A>T (p.Asp1764Val) c.5201A>T (p.Asp1734Val) c.5326A>T c.5399A>T (p.Asp1800Val) n.4220A>T n.2657A>T n.2628A>T n.2518A>T c.5060A>T (p.Asp1687Val) c.*4572A>T (n.*4572A>T) c.5096A>T (p.Asp1699Val) n.3128A>T c.1587A>T n.2520A>T c.5459A>T (p.Asp1820Val) c.5456A>T (p.Asp1819Val) c.5348A>T (p.Asp1783Val) c.5327A>T (p.Asp1776Val) c.4673A>T (p.Asp1558Val) c.5621A>T (p.Asp1874Val) c.5369A>T (p.Asp1790Val) c.4115A>T (p.Asp1372Val) | ClinVar dbSNP |
16 | g.2088592C>A | CA394316199 | TSC2 | c.*3755C>A (n.*3755C>A) c.5253C>A (p.Asp1751Glu) c.5403C>A (p.Asp1801Glu) c.*5919C>A (n.*5919C>A) c.*8155C>A (n.*8155C>A) c.5406C>A (p.Asp1802Glu) c.5337C>A (p.Asp1779Glu) c.5205C>A (p.Asp1735Glu) c.5238C>A (p.Asp1746Glu) c.1629C>A n.3288C>A c.4060C>A c.5265C>A (p.Asp1755Glu) n.1003C>A c.5208C>A (p.Asp1736Glu) c.5274C>A (p.Asp1758Glu) c.5199C>A (p.Asp1733Glu) n.3054C>A c.5331C>A (p.Asp1777Glu) c.5277C>A (p.Asp1759Glu) c.5292C>A (p.Asp1764Glu) c.5202C>A (p.Asp1734Glu) c.5327C>A c.5400C>A (p.Asp1800Glu) n.4221C>A n.2658C>A n.2629C>A n.2519C>A c.5061C>A (p.Asp1687Glu) c.*4573C>A (n.*4573C>A) c.5097C>A (p.Asp1699Glu) n.3129C>A c.1588C>A n.2521C>A c.5460C>A (p.Asp1820Glu) c.5457C>A (p.Asp1819Glu) c.5349C>A (p.Asp1783Glu) c.5328C>A (p.Asp1776Glu) c.4674C>A (p.Asp1558Glu) c.5622C>A (p.Asp1874Glu) c.5370C>A (p.Asp1790Glu) c.4116C>A (p.Asp1372Glu) | |
16 | g.2088592C= | CA2202034513 | TSC2 | c.*3755C= (n.*3755C=) c.5253C= (p.Asp1751=) c.5403C= (p.Asp1801=) c.*5919C= (n.*5919C=) c.*8155C= (n.*8155C=) c.5406C= (p.Asp1802=) c.5337C= (p.Asp1779=) c.5205C= (p.Asp1735=) c.5238C= (p.Asp1746=) c.1629C= n.3288C= c.4060C= c.5265C= (p.Asp1755=) n.1003C= c.5208C= (p.Asp1736=) c.5274C= (p.Asp1758=) c.5199C= (p.Asp1733=) n.3054C= c.5331C= (p.Asp1777=) c.5277C= (p.Asp1759=) c.5292C= (p.Asp1764=) c.5202C= (p.Asp1734=) c.5327C= c.5400C= (p.Asp1800=) n.4221C= n.2658C= n.2629C= n.2519C= c.5061C= (p.Asp1687=) c.*4573C= (n.*4573C=) c.5097C= (p.Asp1699=) n.3129C= c.1588C= n.2521C= c.5460C= (p.Asp1820=) c.5457C= (p.Asp1819=) c.5349C= (p.Asp1783=) c.5328C= (p.Asp1776=) c.4674C= (p.Asp1558=) c.5622C= (p.Asp1874=) c.5370C= (p.Asp1790=) c.4116C= (p.Asp1372=) | |
16 | g.2088592C>G | CA394316201 | TSC2 | c.*3755C>G (n.*3755C>G) c.5253C>G (p.Asp1751Glu) c.5403C>G (p.Asp1801Glu) c.*5919C>G (n.*5919C>G) c.*8155C>G (n.*8155C>G) c.5406C>G (p.Asp1802Glu) c.5337C>G (p.Asp1779Glu) c.5205C>G (p.Asp1735Glu) c.5238C>G (p.Asp1746Glu) c.1629C>G n.3288C>G c.4060C>G c.5265C>G (p.Asp1755Glu) n.1003C>G c.5208C>G (p.Asp1736Glu) c.5274C>G (p.Asp1758Glu) c.5199C>G (p.Asp1733Glu) n.3054C>G c.5331C>G (p.Asp1777Glu) c.5277C>G (p.Asp1759Glu) c.5292C>G (p.Asp1764Glu) c.5202C>G (p.Asp1734Glu) c.5327C>G c.5400C>G (p.Asp1800Glu) n.4221C>G n.2658C>G n.2629C>G n.2519C>G c.5061C>G (p.Asp1687Glu) c.*4573C>G (n.*4573C>G) c.5097C>G (p.Asp1699Glu) n.3129C>G c.1588C>G n.2521C>G c.5460C>G (p.Asp1820Glu) c.5457C>G (p.Asp1819Glu) c.5349C>G (p.Asp1783Glu) c.5328C>G (p.Asp1776Glu) c.4674C>G (p.Asp1558Glu) c.5622C>G (p.Asp1874Glu) c.5370C>G (p.Asp1790Glu) c.4116C>G (p.Asp1372Glu) | ClinVar |
16 | g.2088592C>T | CA055328 | TSC2 | c.*3755C>T (n.*3755C>T) c.5253C>T (p.Asp1751=) c.5403C>T (p.Asp1801=) c.*5919C>T (n.*5919C>T) c.*8155C>T (n.*8155C>T) c.5406C>T (p.Asp1802=) c.5337C>T (p.Asp1779=) c.5205C>T (p.Asp1735=) c.5238C>T (p.Asp1746=) c.1629C>T n.3288C>T c.4060C>T c.5265C>T (p.Asp1755=) n.1003C>T c.5208C>T (p.Asp1736=) c.5274C>T (p.Asp1758=) c.5199C>T (p.Asp1733=) n.3054C>T c.5331C>T (p.Asp1777=) c.5277C>T (p.Asp1759=) c.5292C>T (p.Asp1764=) c.5202C>T (p.Asp1734=) c.5327C>T c.5400C>T (p.Asp1800=) n.4221C>T n.2658C>T n.2629C>T n.2519C>T c.5061C>T (p.Asp1687=) c.*4573C>T (n.*4573C>T) c.5097C>T (p.Asp1699=) n.3129C>T c.1588C>T n.2521C>T c.5460C>T (p.Asp1820=) c.5457C>T (p.Asp1819=) c.5349C>T (p.Asp1783=) c.5328C>T (p.Asp1776=) c.4674C>T (p.Asp1558=) c.5622C>T (p.Asp1874=) c.5370C>T (p.Asp1790=) c.4116C>T (p.Asp1372=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2088593T>A | CA394316209 | TSC2 | c.*3756T>A (n.*3756T>A) c.5254T>A (p.Phe1752Ile) c.5404T>A (p.Phe1802Ile) c.*5920T>A (n.*5920T>A) c.*8156T>A (n.*8156T>A) c.5407T>A (p.Phe1803Ile) c.5338T>A (p.Phe1780Ile) c.5206T>A (p.Phe1736Ile) c.5239T>A (p.Phe1747Ile) c.1630T>A n.3289T>A c.4061T>A c.5266T>A (p.Phe1756Ile) n.1004T>A c.5209T>A (p.Phe1737Ile) c.5275T>A (p.Phe1759Ile) c.5200T>A (p.Phe1734Ile) n.3055T>A c.5332T>A (p.Phe1778Ile) c.5278T>A (p.Phe1760Ile) c.5293T>A (p.Phe1765Ile) c.5203T>A (p.Phe1735Ile) c.5328T>A c.5401T>A (p.Phe1801Ile) n.4222T>A n.2659T>A n.2630T>A n.2520T>A c.5062T>A (p.Phe1688Ile) c.*4574T>A (n.*4574T>A) c.5098T>A (p.Phe1700Ile) n.3130T>A c.1589T>A n.2522T>A c.5461T>A (p.Phe1821Ile) c.5458T>A (p.Phe1820Ile) c.5350T>A (p.Phe1784Ile) c.5329T>A (p.Phe1777Ile) c.4675T>A (p.Phe1559Ile) c.5623T>A (p.Phe1875Ile) c.5371T>A (p.Phe1791Ile) c.4117T>A (p.Phe1373Ile) | |
16 | g.2088593T>C | CA394316205 | TSC2 | c.*3756T>C (n.*3756T>C) c.5254T>C (p.Phe1752Leu) c.5404T>C (p.Phe1802Leu) c.*5920T>C (n.*5920T>C) c.*8156T>C (n.*8156T>C) c.5407T>C (p.Phe1803Leu) c.5338T>C (p.Phe1780Leu) c.5206T>C (p.Phe1736Leu) c.5239T>C (p.Phe1747Leu) c.1630T>C n.3289T>C c.4061T>C c.5266T>C (p.Phe1756Leu) n.1004T>C c.5209T>C (p.Phe1737Leu) c.5275T>C (p.Phe1759Leu) c.5200T>C (p.Phe1734Leu) n.3055T>C c.5332T>C (p.Phe1778Leu) c.5278T>C (p.Phe1760Leu) c.5293T>C (p.Phe1765Leu) c.5203T>C (p.Phe1735Leu) c.5328T>C c.5401T>C (p.Phe1801Leu) n.4222T>C n.2659T>C n.2630T>C n.2520T>C c.5062T>C (p.Phe1688Leu) c.*4574T>C (n.*4574T>C) c.5098T>C (p.Phe1700Leu) n.3130T>C c.1589T>C n.2522T>C c.5461T>C (p.Phe1821Leu) c.5458T>C (p.Phe1820Leu) c.5350T>C (p.Phe1784Leu) c.5329T>C (p.Phe1777Leu) c.4675T>C (p.Phe1559Leu) c.5623T>C (p.Phe1875Leu) c.5371T>C (p.Phe1791Leu) c.4117T>C (p.Phe1373Leu) | ClinVar gnomAD v4 |
16 | g.2088593T>G | CA394316207 | TSC2 | c.*3756T>G (n.*3756T>G) c.5254T>G (p.Phe1752Val) c.5404T>G (p.Phe1802Val) c.*5920T>G (n.*5920T>G) c.*8156T>G (n.*8156T>G) c.5407T>G (p.Phe1803Val) c.5338T>G (p.Phe1780Val) c.5206T>G (p.Phe1736Val) c.5239T>G (p.Phe1747Val) c.1630T>G n.3289T>G c.4061T>G c.5266T>G (p.Phe1756Val) n.1004T>G c.5209T>G (p.Phe1737Val) c.5275T>G (p.Phe1759Val) c.5200T>G (p.Phe1734Val) n.3055T>G c.5332T>G (p.Phe1778Val) c.5278T>G (p.Phe1760Val) c.5293T>G (p.Phe1765Val) c.5203T>G (p.Phe1735Val) c.5328T>G c.5401T>G (p.Phe1801Val) n.4222T>G n.2659T>G n.2630T>G n.2520T>G c.5062T>G (p.Phe1688Val) c.*4574T>G (n.*4574T>G) c.5098T>G (p.Phe1700Val) n.3130T>G c.1589T>G n.2522T>G c.5461T>G (p.Phe1821Val) c.5458T>G (p.Phe1820Val) c.5350T>G (p.Phe1784Val) c.5329T>G (p.Phe1777Val) c.4675T>G (p.Phe1559Val) c.5623T>G (p.Phe1875Val) c.5371T>G (p.Phe1791Val) c.4117T>G (p.Phe1373Val) | |
16 | g.2088594dup | CA022490 | TSC2 | c.*3757dup (n.*3757dup) c.5255dup (p.Thr1753HisfsTer?) c.5405dup (p.Thr1803HisfsTer?) c.*5921dup (n.*5921dup) c.*8157dup (n.*8157dup) c.5408dup (p.Thr1804HisfsTer?) c.5339dup (p.Thr1781HisfsTer?) c.5207dup (p.Thr1737HisfsTer?) c.5240dup (p.Thr1748HisfsTer?) c.1631dup n.3290dup c.4062dup c.5267dup (p.Thr1757HisfsTer?) n.1005dup c.5210dup (p.Thr1738HisfsTer?) c.5276dup (p.Thr1760HisfsTer?) c.5201dup (p.Thr1735HisfsTer?) n.3056dup c.5333dup (p.Thr1779HisfsTer?) c.5279dup (p.Thr1761HisfsTer?) c.5294dup (p.Thr1766HisfsTer?) c.5204dup (p.Thr1736HisfsTer?) c.5329dup c.5402dup (p.Thr1802HisfsTer?) n.4223dup n.2660dup n.2631dup n.2521dup c.5063dup (p.Thr1689HisfsTer?) c.*4575dup (n.*4575dup) c.5099dup (p.Thr1701HisfsTer?) n.3131dup c.1590dup n.2523dup c.5462dup (p.Thr1822HisfsTer?) c.5459dup (p.Thr1821HisfsTer?) c.5351dup (p.Thr1785HisfsTer?) c.5330dup (p.Thr1778HisfsTer?) c.4676dup (p.Thr1560HisfsTer?) c.5624dup (p.Thr1876HisfsTer?) c.5372dup (p.Thr1792HisfsTer?) c.4118dup (p.Thr1374HisfsTer?) | ClinVar dbSNP |
16 | g.2088594T>A | CA394316213 | TSC2 | c.*3757T>A (n.*3757T>A) c.5255T>A (p.Phe1752Tyr) c.5405T>A (p.Phe1802Tyr) c.*5921T>A (n.*5921T>A) c.*8157T>A (n.*8157T>A) c.5408T>A (p.Phe1803Tyr) c.5339T>A (p.Phe1780Tyr) c.5207T>A (p.Phe1736Tyr) c.5240T>A (p.Phe1747Tyr) c.1631T>A n.3290T>A c.4062T>A c.5267T>A (p.Phe1756Tyr) n.1005T>A c.5210T>A (p.Phe1737Tyr) c.5276T>A (p.Phe1759Tyr) c.5201T>A (p.Phe1734Tyr) n.3056T>A c.5333T>A (p.Phe1778Tyr) c.5279T>A (p.Phe1760Tyr) c.5294T>A (p.Phe1765Tyr) c.5204T>A (p.Phe1735Tyr) c.5329T>A c.5402T>A (p.Phe1801Tyr) n.4223T>A n.2660T>A n.2631T>A n.2521T>A c.5063T>A (p.Phe1688Tyr) c.*4575T>A (n.*4575T>A) c.5099T>A (p.Phe1700Tyr) n.3131T>A c.1590T>A n.2523T>A c.5462T>A (p.Phe1821Tyr) c.5459T>A (p.Phe1820Tyr) c.5351T>A (p.Phe1784Tyr) c.5330T>A (p.Phe1777Tyr) c.4676T>A (p.Phe1559Tyr) c.5624T>A (p.Phe1875Tyr) c.5372T>A (p.Phe1791Tyr) c.4118T>A (p.Phe1373Tyr) | |
16 | g.2088594T>C | CA394316216 | TSC2 | c.*3757T>C (n.*3757T>C) c.5255T>C (p.Phe1752Ser) c.5405T>C (p.Phe1802Ser) c.*5921T>C (n.*5921T>C) c.*8157T>C (n.*8157T>C) c.5408T>C (p.Phe1803Ser) c.5339T>C (p.Phe1780Ser) c.5207T>C (p.Phe1736Ser) c.5240T>C (p.Phe1747Ser) c.1631T>C n.3290T>C c.4062T>C c.5267T>C (p.Phe1756Ser) n.1005T>C c.5210T>C (p.Phe1737Ser) c.5276T>C (p.Phe1759Ser) c.5201T>C (p.Phe1734Ser) n.3056T>C c.5333T>C (p.Phe1778Ser) c.5279T>C (p.Phe1760Ser) c.5294T>C (p.Phe1765Ser) c.5204T>C (p.Phe1735Ser) c.5329T>C c.5402T>C (p.Phe1801Ser) n.4223T>C n.2660T>C n.2631T>C n.2521T>C c.5063T>C (p.Phe1688Ser) c.*4575T>C (n.*4575T>C) c.5099T>C (p.Phe1700Ser) n.3131T>C c.1590T>C n.2523T>C c.5462T>C (p.Phe1821Ser) c.5459T>C (p.Phe1820Ser) c.5351T>C (p.Phe1784Ser) c.5330T>C (p.Phe1777Ser) c.4676T>C (p.Phe1559Ser) c.5624T>C (p.Phe1875Ser) c.5372T>C (p.Phe1791Ser) c.4118T>C (p.Phe1373Ser) | ClinVar dbSNP |
16 | g.2088594T>G | CA394316218 | TSC2 | c.*3757T>G (n.*3757T>G) c.5255T>G (p.Phe1752Cys) c.5405T>G (p.Phe1802Cys) c.*5921T>G (n.*5921T>G) c.*8157T>G (n.*8157T>G) c.5408T>G (p.Phe1803Cys) c.5339T>G (p.Phe1780Cys) c.5207T>G (p.Phe1736Cys) c.5240T>G (p.Phe1747Cys) c.1631T>G n.3290T>G c.4062T>G c.5267T>G (p.Phe1756Cys) n.1005T>G c.5210T>G (p.Phe1737Cys) c.5276T>G (p.Phe1759Cys) c.5201T>G (p.Phe1734Cys) n.3056T>G c.5333T>G (p.Phe1778Cys) c.5279T>G (p.Phe1760Cys) c.5294T>G (p.Phe1765Cys) c.5204T>G (p.Phe1735Cys) c.5329T>G c.5402T>G (p.Phe1801Cys) n.4223T>G n.2660T>G n.2631T>G n.2521T>G c.5063T>G (p.Phe1688Cys) c.*4575T>G (n.*4575T>G) c.5099T>G (p.Phe1700Cys) n.3131T>G c.1590T>G n.2523T>G c.5462T>G (p.Phe1821Cys) c.5459T>G (p.Phe1820Cys) c.5351T>G (p.Phe1784Cys) c.5330T>G (p.Phe1777Cys) c.4676T>G (p.Phe1559Cys) c.5624T>G (p.Phe1875Cys) c.5372T>G (p.Phe1791Cys) c.4118T>G (p.Phe1373Cys) | |
16 | g.2088594_2088595insG | CA2580091210 | TSC2 | c.*3757_*3758insG (n.*3757_*3758insG) c.5255_5256insG (p.Phe1752LeufsTer?) c.5405_5406insG (p.Phe1802LeufsTer?) c.*5921_*5922insG (n.*5921_*5922insG) c.*8157_*8158insG (n.*8157_*8158insG) c.5408_5409insG (p.Phe1803LeufsTer?) c.5339_5340insG (p.Phe1780LeufsTer?) c.5207_5208insG (p.Phe1736LeufsTer?) c.5240_5241insG (p.Phe1747LeufsTer?) c.1631_1632insG n.3290_3291insG c.4062_4063insG c.5267_5268insG (p.Phe1756LeufsTer?) n.1005_1006insG c.5210_5211insG (p.Phe1737LeufsTer?) c.5276_5277insG (p.Phe1759LeufsTer?) c.5201_5202insG (p.Phe1734LeufsTer?) n.3056_3057insG c.5333_5334insG (p.Phe1778LeufsTer?) c.5279_5280insG (p.Phe1760LeufsTer?) c.5294_5295insG (p.Phe1765LeufsTer?) c.5204_5205insG (p.Phe1735LeufsTer?) c.5329_5330insG c.5402_5403insG (p.Phe1801LeufsTer?) n.4223_4224insG n.2660_2661insG n.2631_2632insG n.2521_2522insG c.5063_5064insG (p.Phe1688LeufsTer?) c.*4575_*4576insG (n.*4575_*4576insG) c.5099_5100insG (p.Phe1700LeufsTer?) n.3131_3132insG c.1590_1591insG n.2523_2524insG c.5462_5463insG (p.Phe1821LeufsTer?) c.5459_5460insG (p.Phe1820LeufsTer?) c.5351_5352insG (p.Phe1784LeufsTer?) c.5330_5331insG (p.Phe1777LeufsTer?) c.4676_4677insG (p.Phe1559LeufsTer?) c.5624_5625insG (p.Phe1875LeufsTer?) c.5372_5373insG (p.Phe1791LeufsTer?) c.4118_4119insG (p.Phe1373LeufsTer?) | ClinVar |
16 | g.2088595C>A | CA394316221 | TSC2 | c.*3758C>A (n.*3758C>A) c.5256C>A (p.Phe1752Leu) c.5406C>A (p.Phe1802Leu) c.*5922C>A (n.*5922C>A) c.*8158C>A (n.*8158C>A) c.5409C>A (p.Phe1803Leu) c.5340C>A (p.Phe1780Leu) c.5208C>A (p.Phe1736Leu) c.5241C>A (p.Phe1747Leu) c.1632C>A n.3291C>A c.4063C>A c.5268C>A (p.Phe1756Leu) n.1006C>A c.5211C>A (p.Phe1737Leu) c.5277C>A (p.Phe1759Leu) c.5202C>A (p.Phe1734Leu) n.3057C>A c.5334C>A (p.Phe1778Leu) c.5280C>A (p.Phe1760Leu) c.5295C>A (p.Phe1765Leu) c.5205C>A (p.Phe1735Leu) c.5330C>A c.5403C>A (p.Phe1801Leu) n.4224C>A n.2661C>A n.2632C>A n.2522C>A c.5064C>A (p.Phe1688Leu) c.*4576C>A (n.*4576C>A) c.5100C>A (p.Phe1700Leu) n.3132C>A c.1591C>A n.2524C>A c.5463C>A (p.Phe1821Leu) c.5460C>A (p.Phe1820Leu) c.5352C>A (p.Phe1784Leu) c.5331C>A (p.Phe1777Leu) c.4677C>A (p.Phe1559Leu) c.5625C>A (p.Phe1875Leu) c.5373C>A (p.Phe1791Leu) c.4119C>A (p.Phe1373Leu) | |
16 | g.2088595C= | CA2202034530 | TSC2 | c.*3758C= (n.*3758C=) c.5256C= (p.Phe1752=) c.5406C= (p.Phe1802=) c.*5922C= (n.*5922C=) c.*8158C= (n.*8158C=) c.5409C= (p.Phe1803=) c.5340C= (p.Phe1780=) c.5208C= (p.Phe1736=) c.5241C= (p.Phe1747=) c.1632C= n.3291C= c.4063C= c.5268C= (p.Phe1756=) n.1006C= c.5211C= (p.Phe1737=) c.5277C= (p.Phe1759=) c.5202C= (p.Phe1734=) n.3057C= c.5334C= (p.Phe1778=) c.5280C= (p.Phe1760=) c.5295C= (p.Phe1765=) c.5205C= (p.Phe1735=) c.5330C= c.5403C= (p.Phe1801=) n.4224C= n.2661C= n.2632C= n.2522C= c.5064C= (p.Phe1688=) c.*4576C= (n.*4576C=) c.5100C= (p.Phe1700=) n.3132C= c.1591C= n.2524C= c.5463C= (p.Phe1821=) c.5460C= (p.Phe1820=) c.5352C= (p.Phe1784=) c.5331C= (p.Phe1777=) c.4677C= (p.Phe1559=) c.5625C= (p.Phe1875=) c.5373C= (p.Phe1791=) c.4119C= (p.Phe1373=) | |
16 | g.2088595C>G | CA394316224 | TSC2 | c.*3758C>G (n.*3758C>G) c.5256C>G (p.Phe1752Leu) c.5406C>G (p.Phe1802Leu) c.*5922C>G (n.*5922C>G) c.*8158C>G (n.*8158C>G) c.5409C>G (p.Phe1803Leu) c.5340C>G (p.Phe1780Leu) c.5208C>G (p.Phe1736Leu) c.5241C>G (p.Phe1747Leu) c.1632C>G n.3291C>G c.4063C>G c.5268C>G (p.Phe1756Leu) n.1006C>G c.5211C>G (p.Phe1737Leu) c.5277C>G (p.Phe1759Leu) c.5202C>G (p.Phe1734Leu) n.3057C>G c.5334C>G (p.Phe1778Leu) c.5280C>G (p.Phe1760Leu) c.5295C>G (p.Phe1765Leu) c.5205C>G (p.Phe1735Leu) c.5330C>G c.5403C>G (p.Phe1801Leu) n.4224C>G n.2661C>G n.2632C>G n.2522C>G c.5064C>G (p.Phe1688Leu) c.*4576C>G (n.*4576C>G) c.5100C>G (p.Phe1700Leu) n.3132C>G c.1591C>G n.2524C>G c.5463C>G (p.Phe1821Leu) c.5460C>G (p.Phe1820Leu) c.5352C>G (p.Phe1784Leu) c.5331C>G (p.Phe1777Leu) c.4677C>G (p.Phe1559Leu) c.5625C>G (p.Phe1875Leu) c.5373C>G (p.Phe1791Leu) c.4119C>G (p.Phe1373Leu) | |
16 | g.2088595C>T | CA055336 | TSC2 | c.*3758C>T (n.*3758C>T) c.5256C>T (p.Phe1752=) c.5406C>T (p.Phe1802=) c.*5922C>T (n.*5922C>T) c.*8158C>T (n.*8158C>T) c.5409C>T (p.Phe1803=) c.5340C>T (p.Phe1780=) c.5208C>T (p.Phe1736=) c.5241C>T (p.Phe1747=) c.1632C>T n.3291C>T c.4063C>T c.5268C>T (p.Phe1756=) n.1006C>T c.5211C>T (p.Phe1737=) c.5277C>T (p.Phe1759=) c.5202C>T (p.Phe1734=) n.3057C>T c.5334C>T (p.Phe1778=) c.5280C>T (p.Phe1760=) c.5295C>T (p.Phe1765=) c.5205C>T (p.Phe1735=) c.5330C>T c.5403C>T (p.Phe1801=) n.4224C>T n.2661C>T n.2632C>T n.2522C>T c.5064C>T (p.Phe1688=) c.*4576C>T (n.*4576C>T) c.5100C>T (p.Phe1700=) n.3132C>T c.1591C>T n.2524C>T c.5463C>T (p.Phe1821=) c.5460C>T (p.Phe1820=) c.5352C>T (p.Phe1784=) c.5331C>T (p.Phe1777=) c.4677C>T (p.Phe1559=) c.5625C>T (p.Phe1875=) c.5373C>T (p.Phe1791=) c.4119C>T (p.Phe1373=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2088596A= | CA2202034537 | TSC2 | c.*3759A= (n.*3759A=) c.5257A= (p.Thr1753=) c.5407A= (p.Thr1803=) c.*5923A= (n.*5923A=) c.*8159A= (n.*8159A=) c.5410A= (p.Thr1804=) c.5341A= (p.Thr1781=) c.5209A= (p.Thr1737=) c.5242A= (p.Thr1748=) c.1633A= n.3292A= c.4064A= c.5269A= (p.Thr1757=) n.1007A= c.5212A= (p.Thr1738=) c.5278A= (p.Thr1760=) c.5203A= (p.Thr1735=) n.3058A= c.5335A= (p.Thr1779=) c.5281A= (p.Thr1761=) c.5296A= (p.Thr1766=) c.5206A= (p.Thr1736=) c.5331A= c.5404A= (p.Thr1802=) n.4225A= n.2662A= n.2633A= n.2523A= c.5065A= (p.Thr1689=) c.*4577A= (n.*4577A=) c.5101A= (p.Thr1701=) n.3133A= c.1592A= n.2525A= c.5464A= (p.Thr1822=) c.5461A= (p.Thr1821=) c.5353A= (p.Thr1785=) c.5332A= (p.Thr1778=) c.4678A= (p.Thr1560=) c.5626A= (p.Thr1876=) c.5374A= (p.Thr1792=) c.4120A= (p.Thr1374=) | |
16 | g.2088596A>C | CA276760163 | TSC2 | c.*3759A>C (n.*3759A>C) c.5257A>C (p.Thr1753Pro) c.5407A>C (p.Thr1803Pro) c.*5923A>C (n.*5923A>C) c.*8159A>C (n.*8159A>C) c.5410A>C (p.Thr1804Pro) c.5341A>C (p.Thr1781Pro) c.5209A>C (p.Thr1737Pro) c.5242A>C (p.Thr1748Pro) c.1633A>C n.3292A>C c.4064A>C c.5269A>C (p.Thr1757Pro) n.1007A>C c.5212A>C (p.Thr1738Pro) c.5278A>C (p.Thr1760Pro) c.5203A>C (p.Thr1735Pro) n.3058A>C c.5335A>C (p.Thr1779Pro) c.5281A>C (p.Thr1761Pro) c.5296A>C (p.Thr1766Pro) c.5206A>C (p.Thr1736Pro) c.5331A>C c.5404A>C (p.Thr1802Pro) n.4225A>C n.2662A>C n.2633A>C n.2523A>C c.5065A>C (p.Thr1689Pro) c.*4577A>C (n.*4577A>C) c.5101A>C (p.Thr1701Pro) n.3133A>C c.1592A>C n.2525A>C c.5464A>C (p.Thr1822Pro) c.5461A>C (p.Thr1821Pro) c.5353A>C (p.Thr1785Pro) c.5332A>C (p.Thr1778Pro) c.4678A>C (p.Thr1560Pro) c.5626A>C (p.Thr1876Pro) c.5374A>C (p.Thr1792Pro) c.4120A>C (p.Thr1374Pro) | dbSNP |
16 | g.2088596A>G | CA394316232 | TSC2 | c.*3759A>G (n.*3759A>G) c.5257A>G (p.Thr1753Ala) c.5407A>G (p.Thr1803Ala) c.*5923A>G (n.*5923A>G) c.*8159A>G (n.*8159A>G) c.5410A>G (p.Thr1804Ala) c.5341A>G (p.Thr1781Ala) c.5209A>G (p.Thr1737Ala) c.5242A>G (p.Thr1748Ala) c.1633A>G n.3292A>G c.4064A>G c.5269A>G (p.Thr1757Ala) n.1007A>G c.5212A>G (p.Thr1738Ala) c.5278A>G (p.Thr1760Ala) c.5203A>G (p.Thr1735Ala) n.3058A>G c.5335A>G (p.Thr1779Ala) c.5281A>G (p.Thr1761Ala) c.5296A>G (p.Thr1766Ala) c.5206A>G (p.Thr1736Ala) c.5331A>G c.5404A>G (p.Thr1802Ala) n.4225A>G n.2662A>G n.2633A>G n.2523A>G c.5065A>G (p.Thr1689Ala) c.*4577A>G (n.*4577A>G) c.5101A>G (p.Thr1701Ala) n.3133A>G c.1592A>G n.2525A>G c.5464A>G (p.Thr1822Ala) c.5461A>G (p.Thr1821Ala) c.5353A>G (p.Thr1785Ala) c.5332A>G (p.Thr1778Ala) c.4678A>G (p.Thr1560Ala) c.5626A>G (p.Thr1876Ala) c.5374A>G (p.Thr1792Ala) c.4120A>G (p.Thr1374Ala) | ClinVar |
16 | g.2088596A>T | CA394316234 | TSC2 | c.*3759A>T (n.*3759A>T) c.5257A>T (p.Thr1753Ser) c.5407A>T (p.Thr1803Ser) c.*5923A>T (n.*5923A>T) c.*8159A>T (n.*8159A>T) c.5410A>T (p.Thr1804Ser) c.5341A>T (p.Thr1781Ser) c.5209A>T (p.Thr1737Ser) c.5242A>T (p.Thr1748Ser) c.1633A>T n.3292A>T c.4064A>T c.5269A>T (p.Thr1757Ser) n.1007A>T c.5212A>T (p.Thr1738Ser) c.5278A>T (p.Thr1760Ser) c.5203A>T (p.Thr1735Ser) n.3058A>T c.5335A>T (p.Thr1779Ser) c.5281A>T (p.Thr1761Ser) c.5296A>T (p.Thr1766Ser) c.5206A>T (p.Thr1736Ser) c.5331A>T c.5404A>T (p.Thr1802Ser) n.4225A>T n.2662A>T n.2633A>T n.2523A>T c.5065A>T (p.Thr1689Ser) c.*4577A>T (n.*4577A>T) c.5101A>T (p.Thr1701Ser) n.3133A>T c.1592A>T n.2525A>T c.5464A>T (p.Thr1822Ser) c.5461A>T (p.Thr1821Ser) c.5353A>T (p.Thr1785Ser) c.5332A>T (p.Thr1778Ser) c.4678A>T (p.Thr1560Ser) c.5626A>T (p.Thr1876Ser) c.5374A>T (p.Thr1792Ser) c.4120A>T (p.Thr1374Ser) | |
16 | g.2088597C>A | CA394316237 | TSC2 | c.*3760C>A (n.*3760C>A) c.5258C>A (p.Thr1753Asn) c.5408C>A (p.Thr1803Asn) c.*5924C>A (n.*5924C>A) c.*8160C>A (n.*8160C>A) c.5411C>A (p.Thr1804Asn) c.5342C>A (p.Thr1781Asn) c.5210C>A (p.Thr1737Asn) c.5243C>A (p.Thr1748Asn) c.1634C>A n.3293C>A c.4065C>A c.5270C>A (p.Thr1757Asn) n.1008C>A c.5213C>A (p.Thr1738Asn) c.5279C>A (p.Thr1760Asn) c.5204C>A (p.Thr1735Asn) n.3059C>A c.5336C>A (p.Thr1779Asn) c.5282C>A (p.Thr1761Asn) c.5297C>A (p.Thr1766Asn) c.5207C>A (p.Thr1736Asn) c.5332C>A c.5405C>A (p.Thr1802Asn) n.4226C>A n.2663C>A n.2634C>A n.2524C>A c.5066C>A (p.Thr1689Asn) c.*4578C>A (n.*4578C>A) c.5102C>A (p.Thr1701Asn) n.3134C>A c.1593C>A n.2526C>A c.5465C>A (p.Thr1822Asn) c.5462C>A (p.Thr1821Asn) c.5354C>A (p.Thr1785Asn) c.5333C>A (p.Thr1778Asn) c.4679C>A (p.Thr1560Asn) c.5627C>A (p.Thr1876Asn) c.5375C>A (p.Thr1792Asn) c.4121C>A (p.Thr1374Asn) | |
16 | g.2088597C>G | CA394316239 | TSC2 | c.*3760C>G (n.*3760C>G) c.5258C>G (p.Thr1753Ser) c.5408C>G (p.Thr1803Ser) c.*5924C>G (n.*5924C>G) c.*8160C>G (n.*8160C>G) c.5411C>G (p.Thr1804Ser) c.5342C>G (p.Thr1781Ser) c.5210C>G (p.Thr1737Ser) c.5243C>G (p.Thr1748Ser) c.1634C>G n.3293C>G c.4065C>G c.5270C>G (p.Thr1757Ser) n.1008C>G c.5213C>G (p.Thr1738Ser) c.5279C>G (p.Thr1760Ser) c.5204C>G (p.Thr1735Ser) n.3059C>G c.5336C>G (p.Thr1779Ser) c.5282C>G (p.Thr1761Ser) c.5297C>G (p.Thr1766Ser) c.5207C>G (p.Thr1736Ser) c.5332C>G c.5405C>G (p.Thr1802Ser) n.4226C>G n.2663C>G n.2634C>G n.2524C>G c.5066C>G (p.Thr1689Ser) c.*4578C>G (n.*4578C>G) c.5102C>G (p.Thr1701Ser) n.3134C>G c.1593C>G n.2526C>G c.5465C>G (p.Thr1822Ser) c.5462C>G (p.Thr1821Ser) c.5354C>G (p.Thr1785Ser) c.5333C>G (p.Thr1778Ser) c.4679C>G (p.Thr1560Ser) c.5627C>G (p.Thr1876Ser) c.5375C>G (p.Thr1792Ser) c.4121C>G (p.Thr1374Ser) | gnomAD v4 |
16 | g.2088597C>T | CA394316246 | TSC2 | c.*3760C>T (n.*3760C>T) c.5258C>T (p.Thr1753Ile) c.5408C>T (p.Thr1803Ile) c.*5924C>T (n.*5924C>T) c.*8160C>T (n.*8160C>T) c.5411C>T (p.Thr1804Ile) c.5342C>T (p.Thr1781Ile) c.5210C>T (p.Thr1737Ile) c.5243C>T (p.Thr1748Ile) c.1634C>T n.3293C>T c.4065C>T c.5270C>T (p.Thr1757Ile) n.1008C>T c.5213C>T (p.Thr1738Ile) c.5279C>T (p.Thr1760Ile) c.5204C>T (p.Thr1735Ile) n.3059C>T c.5336C>T (p.Thr1779Ile) c.5282C>T (p.Thr1761Ile) c.5297C>T (p.Thr1766Ile) c.5207C>T (p.Thr1736Ile) c.5332C>T c.5405C>T (p.Thr1802Ile) n.4226C>T n.2663C>T n.2634C>T n.2524C>T c.5066C>T (p.Thr1689Ile) c.*4578C>T (n.*4578C>T) c.5102C>T (p.Thr1701Ile) n.3134C>T c.1593C>T n.2526C>T c.5465C>T (p.Thr1822Ile) c.5462C>T (p.Thr1821Ile) c.5354C>T (p.Thr1785Ile) c.5333C>T (p.Thr1778Ile) c.4679C>T (p.Thr1560Ile) c.5627C>T (p.Thr1876Ile) c.5375C>T (p.Thr1792Ile) c.4121C>T (p.Thr1374Ile) | ClinVar dbSNP gnomAD v4 |
16 | g.2088598C>A | CA055340 | TSC2 | c.*3761C>A (n.*3761C>A) c.5259C>A (p.Thr1753=) c.5409C>A (p.Thr1803=) c.*5925C>A (n.*5925C>A) c.*8161C>A (n.*8161C>A) c.5412C>A (p.Thr1804=) c.5343C>A (p.Thr1781=) c.5211C>A (p.Thr1737=) c.5244C>A (p.Thr1748=) c.1635C>A n.3294C>A c.4066C>A c.5271C>A (p.Thr1757=) n.1009C>A c.5214C>A (p.Thr1738=) c.5280C>A (p.Thr1760=) c.5205C>A (p.Thr1735=) n.3060C>A c.5337C>A (p.Thr1779=) c.5283C>A (p.Thr1761=) c.5298C>A (p.Thr1766=) c.5208C>A (p.Thr1736=) c.5333C>A c.5406C>A (p.Thr1802=) n.4227C>A n.2664C>A n.2635C>A n.2525C>A c.5067C>A (p.Thr1689=) c.*4579C>A (n.*4579C>A) c.5103C>A (p.Thr1701=) n.3135C>A c.1594C>A n.2527C>A c.5466C>A (p.Thr1822=) c.5463C>A (p.Thr1821=) c.5355C>A (p.Thr1785=) c.5334C>A (p.Thr1778=) c.4680C>A (p.Thr1560=) c.5628C>A (p.Thr1876=) c.5376C>A (p.Thr1792=) c.4122C>A (p.Thr1374=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2088598C= | CA2202034544 | TSC2 | c.*3761C= (n.*3761C=) c.5259C= (p.Thr1753=) c.5409C= (p.Thr1803=) c.*5925C= (n.*5925C=) c.*8161C= (n.*8161C=) c.5412C= (p.Thr1804=) c.5343C= (p.Thr1781=) c.5211C= (p.Thr1737=) c.5244C= (p.Thr1748=) c.1635C= n.3294C= c.4066C= c.5271C= (p.Thr1757=) n.1009C= c.5214C= (p.Thr1738=) c.5280C= (p.Thr1760=) c.5205C= (p.Thr1735=) n.3060C= c.5337C= (p.Thr1779=) c.5283C= (p.Thr1761=) c.5298C= (p.Thr1766=) c.5208C= (p.Thr1736=) c.5333C= c.5406C= (p.Thr1802=) n.4227C= n.2664C= n.2635C= n.2525C= c.5067C= (p.Thr1689=) c.*4579C= (n.*4579C=) c.5103C= (p.Thr1701=) n.3135C= c.1594C= n.2527C= c.5466C= (p.Thr1822=) c.5463C= (p.Thr1821=) c.5355C= (p.Thr1785=) c.5334C= (p.Thr1778=) c.4680C= (p.Thr1560=) c.5628C= (p.Thr1876=) c.5376C= (p.Thr1792=) c.4122C= (p.Thr1374=) | |
16 | g.2088598C>G | CA493043859 | TSC2 | c.*3761C>G (n.*3761C>G) c.5259C>G (p.Thr1753=) c.5409C>G (p.Thr1803=) c.*5925C>G (n.*5925C>G) c.*8161C>G (n.*8161C>G) c.5412C>G (p.Thr1804=) c.5343C>G (p.Thr1781=) c.5211C>G (p.Thr1737=) c.5244C>G (p.Thr1748=) c.1635C>G n.3294C>G c.4066C>G c.5271C>G (p.Thr1757=) n.1009C>G c.5214C>G (p.Thr1738=) c.5280C>G (p.Thr1760=) c.5205C>G (p.Thr1735=) n.3060C>G c.5337C>G (p.Thr1779=) c.5283C>G (p.Thr1761=) c.5298C>G (p.Thr1766=) c.5208C>G (p.Thr1736=) c.5333C>G c.5406C>G (p.Thr1802=) n.4227C>G n.2664C>G n.2635C>G n.2525C>G c.5067C>G (p.Thr1689=) c.*4579C>G (n.*4579C>G) c.5103C>G (p.Thr1701=) n.3135C>G c.1594C>G n.2527C>G c.5466C>G (p.Thr1822=) c.5463C>G (p.Thr1821=) c.5355C>G (p.Thr1785=) c.5334C>G (p.Thr1778=) c.4680C>G (p.Thr1560=) c.5628C>G (p.Thr1876=) c.5376C>G (p.Thr1792=) c.4122C>G (p.Thr1374=) | ClinVar gnomAD v4 |
16 | g.2088598C>T | CA022495 | TSC2 | c.*3761C>T (n.*3761C>T) c.5259C>T (p.Thr1753=) c.5409C>T (p.Thr1803=) c.*5925C>T (n.*5925C>T) c.*8161C>T (n.*8161C>T) c.5412C>T (p.Thr1804=) c.5343C>T (p.Thr1781=) c.5211C>T (p.Thr1737=) c.5244C>T (p.Thr1748=) c.1635C>T n.3294C>T c.4066C>T c.5271C>T (p.Thr1757=) n.1009C>T c.5214C>T (p.Thr1738=) c.5280C>T (p.Thr1760=) c.5205C>T (p.Thr1735=) n.3060C>T c.5337C>T (p.Thr1779=) c.5283C>T (p.Thr1761=) c.5298C>T (p.Thr1766=) c.5208C>T (p.Thr1736=) c.5333C>T c.5406C>T (p.Thr1802=) n.4227C>T n.2664C>T n.2635C>T n.2525C>T c.5067C>T (p.Thr1689=) c.*4579C>T (n.*4579C>T) c.5103C>T (p.Thr1701=) n.3135C>T c.1594C>T n.2527C>T c.5466C>T (p.Thr1822=) c.5463C>T (p.Thr1821=) c.5355C>T (p.Thr1785=) c.5334C>T (p.Thr1778=) c.4680C>T (p.Thr1560=) c.5628C>T (p.Thr1876=) c.5376C>T (p.Thr1792=) c.4122C>T (p.Thr1374=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088599G>A | CA055360 | TSC2 | c.*3762G>A (n.*3762G>A) c.5260G>A (p.Glu1754Lys) c.5410G>A (p.Glu1804Lys) c.*5926G>A (n.*5926G>A) c.*8162G>A (n.*8162G>A) c.5413G>A (p.Glu1805Lys) c.5344G>A (p.Glu1782Lys) c.5212G>A (p.Glu1738Lys) c.5245G>A (p.Glu1749Lys) c.1636G>A n.3295G>A c.4067G>A c.5272G>A (p.Glu1758Lys) n.1010G>A c.5215G>A (p.Glu1739Lys) c.5281G>A (p.Glu1761Lys) c.5206G>A (p.Glu1736Lys) n.3061G>A c.5338G>A (p.Glu1780Lys) c.5284G>A (p.Glu1762Lys) c.5299G>A (p.Glu1767Lys) c.5209G>A (p.Glu1737Lys) c.5334G>A c.5407G>A (p.Glu1803Lys) n.4228G>A n.2665G>A n.2636G>A n.2526G>A c.5068G>A (p.Glu1690Lys) c.*4580G>A (n.*4580G>A) c.5104G>A (p.Glu1702Lys) n.3136G>A c.1595G>A n.2528G>A c.5467G>A (p.Glu1823Lys) c.5464G>A (p.Glu1822Lys) c.5356G>A (p.Glu1786Lys) c.5335G>A (p.Glu1779Lys) c.4681G>A (p.Glu1561Lys) c.5629G>A (p.Glu1877Lys) c.5377G>A (p.Glu1793Lys) c.4123G>A (p.Glu1375Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088599G>C | CA394316254 | TSC2 | c.*3762G>C (n.*3762G>C) c.5260G>C (p.Glu1754Gln) c.5410G>C (p.Glu1804Gln) c.*5926G>C (n.*5926G>C) c.*8162G>C (n.*8162G>C) c.5413G>C (p.Glu1805Gln) c.5344G>C (p.Glu1782Gln) c.5212G>C (p.Glu1738Gln) c.5245G>C (p.Glu1749Gln) c.1636G>C n.3295G>C c.4067G>C c.5272G>C (p.Glu1758Gln) n.1010G>C c.5215G>C (p.Glu1739Gln) c.5281G>C (p.Glu1761Gln) c.5206G>C (p.Glu1736Gln) n.3061G>C c.5338G>C (p.Glu1780Gln) c.5284G>C (p.Glu1762Gln) c.5299G>C (p.Glu1767Gln) c.5209G>C (p.Glu1737Gln) c.5334G>C c.5407G>C (p.Glu1803Gln) n.4228G>C n.2665G>C n.2636G>C n.2526G>C c.5068G>C (p.Glu1690Gln) c.*4580G>C (n.*4580G>C) c.5104G>C (p.Glu1702Gln) n.3136G>C c.1595G>C n.2528G>C c.5467G>C (p.Glu1823Gln) c.5464G>C (p.Glu1822Gln) c.5356G>C (p.Glu1786Gln) c.5335G>C (p.Glu1779Gln) c.4681G>C (p.Glu1561Gln) c.5629G>C (p.Glu1877Gln) c.5377G>C (p.Glu1793Gln) c.4123G>C (p.Glu1375Gln) | ClinVar dbSNP |
16 | g.2088599G= | CA2202034552 | TSC2 | c.*3762G= (n.*3762G=) c.5260G= (p.Glu1754=) c.5410G= (p.Glu1804=) c.*5926G= (n.*5926G=) c.*8162G= (n.*8162G=) c.5413G= (p.Glu1805=) c.5344G= (p.Glu1782=) c.5212G= (p.Glu1738=) c.5245G= (p.Glu1749=) c.1636G= n.3295G= c.4067G= c.5272G= (p.Glu1758=) n.1010G= c.5215G= (p.Glu1739=) c.5281G= (p.Glu1761=) c.5206G= (p.Glu1736=) n.3061G= c.5338G= (p.Glu1780=) c.5284G= (p.Glu1762=) c.5299G= (p.Glu1767=) c.5209G= (p.Glu1737=) c.5334G= c.5407G= (p.Glu1803=) n.4228G= n.2665G= n.2636G= n.2526G= c.5068G= (p.Glu1690=) c.*4580G= (n.*4580G=) c.5104G= (p.Glu1702=) n.3136G= c.1595G= n.2528G= c.5467G= (p.Glu1823=) c.5464G= (p.Glu1822=) c.5356G= (p.Glu1786=) c.5335G= (p.Glu1779=) c.4681G= (p.Glu1561=) c.5629G= (p.Glu1877=) c.5377G= (p.Glu1793=) c.4123G= (p.Glu1375=) | |
16 | g.2088599G>T | CA394316257 | TSC2 | c.*3762G>T (n.*3762G>T) c.5260G>T (p.Glu1754Ter) c.5410G>T (p.Glu1804Ter) c.*5926G>T (n.*5926G>T) c.*8162G>T (n.*8162G>T) c.5413G>T (p.Glu1805Ter) c.5344G>T (p.Glu1782Ter) c.5212G>T (p.Glu1738Ter) c.5245G>T (p.Glu1749Ter) c.1636G>T n.3295G>T c.4067G>T c.5272G>T (p.Glu1758Ter) n.1010G>T c.5215G>T (p.Glu1739Ter) c.5281G>T (p.Glu1761Ter) c.5206G>T (p.Glu1736Ter) n.3061G>T c.5338G>T (p.Glu1780Ter) c.5284G>T (p.Glu1762Ter) c.5299G>T (p.Glu1767Ter) c.5209G>T (p.Glu1737Ter) c.5334G>T c.5407G>T (p.Glu1803Ter) n.4228G>T n.2665G>T n.2636G>T n.2526G>T c.5068G>T (p.Glu1690Ter) c.*4580G>T (n.*4580G>T) c.5104G>T (p.Glu1702Ter) n.3136G>T c.1595G>T n.2528G>T c.5467G>T (p.Glu1823Ter) c.5464G>T (p.Glu1822Ter) c.5356G>T (p.Glu1786Ter) c.5335G>T (p.Glu1779Ter) c.4681G>T (p.Glu1561Ter) c.5629G>T (p.Glu1877Ter) c.5377G>T (p.Glu1793Ter) c.4123G>T (p.Glu1375Ter) | ClinVar dbSNP gnomAD v4 |
16 | g.2088600A= | CA2202034563 | TSC2 | c.*3763A= (n.*3763A=) c.5261A= (p.Glu1754=) c.5411A= (p.Glu1804=) c.*5927A= (n.*5927A=) c.*8163A= (n.*8163A=) c.5414A= (p.Glu1805=) c.5345A= (p.Glu1782=) c.5213A= (p.Glu1738=) c.5246A= (p.Glu1749=) c.1637A= n.3296A= c.4068A= c.5273A= (p.Glu1758=) n.1011A= c.5216A= (p.Glu1739=) c.5282A= (p.Glu1761=) c.5207A= (p.Glu1736=) n.3062A= c.5339A= (p.Glu1780=) c.5285A= (p.Glu1762=) c.5300A= (p.Glu1767=) c.5210A= (p.Glu1737=) c.5335A= c.5408A= (p.Glu1803=) n.4229A= n.2666A= n.2637A= n.2527A= c.5069A= (p.Glu1690=) c.*4581A= (n.*4581A=) c.5105A= (p.Glu1702=) n.3137A= c.1596A= n.2529A= c.5468A= (p.Glu1823=) c.5465A= (p.Glu1822=) c.5357A= (p.Glu1786=) c.5336A= (p.Glu1779=) c.4682A= (p.Glu1561=) c.5630A= (p.Glu1877=) c.5378A= (p.Glu1793=) c.4124A= (p.Glu1375=) | |
16 | g.2088600A>C | CA394316261 | TSC2 | c.*3763A>C (n.*3763A>C) c.5261A>C (p.Glu1754Ala) c.5411A>C (p.Glu1804Ala) c.*5927A>C (n.*5927A>C) c.*8163A>C (n.*8163A>C) c.5414A>C (p.Glu1805Ala) c.5345A>C (p.Glu1782Ala) c.5213A>C (p.Glu1738Ala) c.5246A>C (p.Glu1749Ala) c.1637A>C n.3296A>C c.4068A>C c.5273A>C (p.Glu1758Ala) n.1011A>C c.5216A>C (p.Glu1739Ala) c.5282A>C (p.Glu1761Ala) c.5207A>C (p.Glu1736Ala) n.3062A>C c.5339A>C (p.Glu1780Ala) c.5285A>C (p.Glu1762Ala) c.5300A>C (p.Glu1767Ala) c.5210A>C (p.Glu1737Ala) c.5335A>C c.5408A>C (p.Glu1803Ala) n.4229A>C n.2666A>C n.2637A>C n.2527A>C c.5069A>C (p.Glu1690Ala) c.*4581A>C (n.*4581A>C) c.5105A>C (p.Glu1702Ala) n.3137A>C c.1596A>C n.2529A>C c.5468A>C (p.Glu1823Ala) c.5465A>C (p.Glu1822Ala) c.5357A>C (p.Glu1786Ala) c.5336A>C (p.Glu1779Ala) c.4682A>C (p.Glu1561Ala) c.5630A>C (p.Glu1877Ala) c.5378A>C (p.Glu1793Ala) c.4124A>C (p.Glu1375Ala) | |
16 | g.2088600A>G | CA394316262 | TSC2 | c.*3763A>G (n.*3763A>G) c.5261A>G (p.Glu1754Gly) c.5411A>G (p.Glu1804Gly) c.*5927A>G (n.*5927A>G) c.*8163A>G (n.*8163A>G) c.5414A>G (p.Glu1805Gly) c.5345A>G (p.Glu1782Gly) c.5213A>G (p.Glu1738Gly) c.5246A>G (p.Glu1749Gly) c.1637A>G n.3296A>G c.4068A>G c.5273A>G (p.Glu1758Gly) n.1011A>G c.5216A>G (p.Glu1739Gly) c.5282A>G (p.Glu1761Gly) c.5207A>G (p.Glu1736Gly) n.3062A>G c.5339A>G (p.Glu1780Gly) c.5285A>G (p.Glu1762Gly) c.5300A>G (p.Glu1767Gly) c.5210A>G (p.Glu1737Gly) c.5335A>G c.5408A>G (p.Glu1803Gly) n.4229A>G n.2666A>G n.2637A>G n.2527A>G c.5069A>G (p.Glu1690Gly) c.*4581A>G (n.*4581A>G) c.5105A>G (p.Glu1702Gly) n.3137A>G c.1596A>G n.2529A>G c.5468A>G (p.Glu1823Gly) c.5465A>G (p.Glu1822Gly) c.5357A>G (p.Glu1786Gly) c.5336A>G (p.Glu1779Gly) c.4682A>G (p.Glu1561Gly) c.5630A>G (p.Glu1877Gly) c.5378A>G (p.Glu1793Gly) c.4124A>G (p.Glu1375Gly) | ClinVar dbSNP gnomAD v4 |
16 | g.2088600A>T | CA394316264 | TSC2 | c.*3763A>T (n.*3763A>T) c.5261A>T (p.Glu1754Val) c.5411A>T (p.Glu1804Val) c.*5927A>T (n.*5927A>T) c.*8163A>T (n.*8163A>T) c.5414A>T (p.Glu1805Val) c.5345A>T (p.Glu1782Val) c.5213A>T (p.Glu1738Val) c.5246A>T (p.Glu1749Val) c.1637A>T n.3296A>T c.4068A>T c.5273A>T (p.Glu1758Val) n.1011A>T c.5216A>T (p.Glu1739Val) c.5282A>T (p.Glu1761Val) c.5207A>T (p.Glu1736Val) n.3062A>T c.5339A>T (p.Glu1780Val) c.5285A>T (p.Glu1762Val) c.5300A>T (p.Glu1767Val) c.5210A>T (p.Glu1737Val) c.5335A>T c.5408A>T (p.Glu1803Val) n.4229A>T n.2666A>T n.2637A>T n.2527A>T c.5069A>T (p.Glu1690Val) c.*4581A>T (n.*4581A>T) c.5105A>T (p.Glu1702Val) n.3137A>T c.1596A>T n.2529A>T c.5468A>T (p.Glu1823Val) c.5465A>T (p.Glu1822Val) c.5357A>T (p.Glu1786Val) c.5336A>T (p.Glu1779Val) c.4682A>T (p.Glu1561Val) c.5630A>T (p.Glu1877Val) c.5378A>T (p.Glu1793Val) c.4124A>T (p.Glu1375Val) | |
16 | g.2088600dup | CA022500 | TSC2 | c.*3763dup (n.*3763dup) c.5261dup (p.Phe1755ValfsTer?) c.5411dup (p.Phe1805ValfsTer?) c.*5927dup (n.*5927dup) c.*8163dup (n.*8163dup) c.5414dup (p.Phe1806ValfsTer?) c.5345dup (p.Phe1783ValfsTer?) c.5213dup (p.Phe1739ValfsTer?) c.5246dup (p.Phe1750ValfsTer?) c.1637dup n.3296dup c.4068dup c.5273dup (p.Phe1759ValfsTer?) n.1011dup c.5216dup (p.Phe1740ValfsTer?) c.5282dup (p.Phe1762ValfsTer?) c.5207dup (p.Phe1737ValfsTer?) n.3062dup c.5339dup (p.Phe1781ValfsTer?) c.5285dup (p.Phe1763ValfsTer?) c.5300dup (p.Phe1768ValfsTer?) c.5210dup (p.Phe1738ValfsTer?) c.5335dup c.5408dup (p.Phe1804ValfsTer?) n.4229dup n.2666dup n.2637dup n.2527dup c.5069dup (p.Phe1691ValfsTer?) c.*4581dup (n.*4581dup) c.5105dup (p.Phe1703ValfsTer?) n.3137dup c.1596dup n.2529dup c.5468dup (p.Phe1824ValfsTer?) c.5465dup (p.Phe1823ValfsTer?) c.5357dup (p.Phe1787ValfsTer?) c.5336dup (p.Phe1780ValfsTer?) c.4682dup (p.Phe1562ValfsTer?) c.5630dup (p.Phe1878ValfsTer?) c.5378dup (p.Phe1794ValfsTer?) c.4124dup (p.Phe1376ValfsTer?) | ClinVar dbSNP |
16 | g.2088600_2088603dup | CA2695221416 | TSC2 | c.*3763_*3766dup (n.*3763_*3766dup) c.5261_5264dup (p.Phe1755LeufsTer?) c.5411_5414dup (p.Phe1805LeufsTer?) c.*5927_*5930dup (n.*5927_*5930dup) c.*8163_*8166dup (n.*8163_*8166dup) c.5414_5417dup (p.Phe1806LeufsTer?) c.5345_5348dup (p.Phe1783LeufsTer?) c.5213_5216dup (p.Phe1739LeufsTer?) c.5246_5249dup (p.Phe1750LeufsTer?) c.1637_1640dup n.3296_3299dup c.4068_4071dup c.5273_5276dup (p.Phe1759LeufsTer?) n.1011_1014dup c.5216_5219dup (p.Phe1740LeufsTer?) c.5282_5285dup (p.Phe1762LeufsTer?) c.5207_5210dup (p.Phe1737LeufsTer?) n.3062_3065dup c.5339_5342dup (p.Phe1781LeufsTer?) c.5285_5288dup (p.Phe1763LeufsTer?) c.5300_5303dup (p.Phe1768LeufsTer?) c.5210_5213dup (p.Phe1738LeufsTer?) c.5335_5338dup c.5408_5411dup (p.Phe1804LeufsTer?) n.4229_4232dup n.2666_2669dup n.2637_2640dup n.2527_2530dup c.5069_5072dup (p.Phe1691LeufsTer?) c.*4581_*4584dup (n.*4581_*4584dup) c.5105_5108dup (p.Phe1703LeufsTer?) n.3137_3140dup c.1596_1599dup n.2529_2532dup c.5468_5471dup (p.Phe1824LeufsTer?) c.5465_5468dup (p.Phe1823LeufsTer?) c.5357_5360dup (p.Phe1787LeufsTer?) c.5336_5339dup (p.Phe1780LeufsTer?) c.4682_4685dup (p.Phe1562LeufsTer?) c.5630_5633dup (p.Phe1878LeufsTer?) c.5378_5381dup (p.Phe1794LeufsTer?) c.4124_4127dup (p.Phe1376LeufsTer?) | |
16 | g.2088601G>A | CA276760191 | TSC2 | c.*3764G>A (n.*3764G>A) c.5262G>A (p.Glu1754=) c.5412G>A (p.Glu1804=) c.*5928G>A (n.*5928G>A) c.*8164G>A (n.*8164G>A) c.5415G>A (p.Glu1805=) c.5346G>A (p.Glu1782=) c.5214G>A (p.Glu1738=) c.5247G>A (p.Glu1749=) c.1638G>A n.3297G>A c.4069G>A c.5274G>A (p.Glu1758=) n.1012G>A c.5217G>A (p.Glu1739=) c.5283G>A (p.Glu1761=) c.5208G>A (p.Glu1736=) n.3063G>A c.5340G>A (p.Glu1780=) c.5286G>A (p.Glu1762=) c.5301G>A (p.Glu1767=) c.5211G>A (p.Glu1737=) c.5336G>A c.5409G>A (p.Glu1803=) n.4230G>A n.2667G>A n.2638G>A n.2528G>A c.5070G>A (p.Glu1690=) c.*4582G>A (n.*4582G>A) c.5106G>A (p.Glu1702=) n.3138G>A c.1597G>A n.2530G>A c.5469G>A (p.Glu1823=) c.5466G>A (p.Glu1822=) c.5358G>A (p.Glu1786=) c.5337G>A (p.Glu1779=) c.4683G>A (p.Glu1561=) c.5631G>A (p.Glu1877=) c.5379G>A (p.Glu1793=) c.4125G>A (p.Glu1375=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.2088601G>C | CA394316267 | TSC2 | c.*3764G>C (n.*3764G>C) c.5262G>C (p.Glu1754Asp) c.5412G>C (p.Glu1804Asp) c.*5928G>C (n.*5928G>C) c.*8164G>C (n.*8164G>C) c.5415G>C (p.Glu1805Asp) c.5346G>C (p.Glu1782Asp) c.5214G>C (p.Glu1738Asp) c.5247G>C (p.Glu1749Asp) c.1638G>C n.3297G>C c.4069G>C c.5274G>C (p.Glu1758Asp) n.1012G>C c.5217G>C (p.Glu1739Asp) c.5283G>C (p.Glu1761Asp) c.5208G>C (p.Glu1736Asp) n.3063G>C c.5340G>C (p.Glu1780Asp) c.5286G>C (p.Glu1762Asp) c.5301G>C (p.Glu1767Asp) c.5211G>C (p.Glu1737Asp) c.5336G>C c.5409G>C (p.Glu1803Asp) n.4230G>C n.2667G>C n.2638G>C n.2528G>C c.5070G>C (p.Glu1690Asp) c.*4582G>C (n.*4582G>C) c.5106G>C (p.Glu1702Asp) n.3138G>C c.1597G>C n.2530G>C c.5469G>C (p.Glu1823Asp) c.5466G>C (p.Glu1822Asp) c.5358G>C (p.Glu1786Asp) c.5337G>C (p.Glu1779Asp) c.4683G>C (p.Glu1561Asp) c.5631G>C (p.Glu1877Asp) c.5379G>C (p.Glu1793Asp) c.4125G>C (p.Glu1375Asp) | ClinVar dbSNP |
16 | g.2088601G= | CA2202034574 | TSC2 | c.*3764G= (n.*3764G=) c.5262G= (p.Glu1754=) c.5412G= (p.Glu1804=) c.*5928G= (n.*5928G=) c.*8164G= (n.*8164G=) c.5415G= (p.Glu1805=) c.5346G= (p.Glu1782=) c.5214G= (p.Glu1738=) c.5247G= (p.Glu1749=) c.1638G= n.3297G= c.4069G= c.5274G= (p.Glu1758=) n.1012G= c.5217G= (p.Glu1739=) c.5283G= (p.Glu1761=) c.5208G= (p.Glu1736=) n.3063G= c.5340G= (p.Glu1780=) c.5286G= (p.Glu1762=) c.5301G= (p.Glu1767=) c.5211G= (p.Glu1737=) c.5336G= c.5409G= (p.Glu1803=) n.4230G= n.2667G= n.2638G= n.2528G= c.5070G= (p.Glu1690=) c.*4582G= (n.*4582G=) c.5106G= (p.Glu1702=) n.3138G= c.1597G= n.2530G= c.5469G= (p.Glu1823=) c.5466G= (p.Glu1822=) c.5358G= (p.Glu1786=) c.5337G= (p.Glu1779=) c.4683G= (p.Glu1561=) c.5631G= (p.Glu1877=) c.5379G= (p.Glu1793=) c.4125G= (p.Glu1375=) | |
16 | g.2088601G>T | CA394316269 | TSC2 | c.*3764G>T (n.*3764G>T) c.5262G>T (p.Glu1754Asp) c.5412G>T (p.Glu1804Asp) c.*5928G>T (n.*5928G>T) c.*8164G>T (n.*8164G>T) c.5415G>T (p.Glu1805Asp) c.5346G>T (p.Glu1782Asp) c.5214G>T (p.Glu1738Asp) c.5247G>T (p.Glu1749Asp) c.1638G>T n.3297G>T c.4069G>T c.5274G>T (p.Glu1758Asp) n.1012G>T c.5217G>T (p.Glu1739Asp) c.5283G>T (p.Glu1761Asp) c.5208G>T (p.Glu1736Asp) n.3063G>T c.5340G>T (p.Glu1780Asp) c.5286G>T (p.Glu1762Asp) c.5301G>T (p.Glu1767Asp) c.5211G>T (p.Glu1737Asp) c.5336G>T c.5409G>T (p.Glu1803Asp) n.4230G>T n.2667G>T n.2638G>T n.2528G>T c.5070G>T (p.Glu1690Asp) c.*4582G>T (n.*4582G>T) c.5106G>T (p.Glu1702Asp) n.3138G>T c.1597G>T n.2530G>T c.5469G>T (p.Glu1823Asp) c.5466G>T (p.Glu1822Asp) c.5358G>T (p.Glu1786Asp) c.5337G>T (p.Glu1779Asp) c.4683G>T (p.Glu1561Asp) c.5631G>T (p.Glu1877Asp) c.5379G>T (p.Glu1793Asp) c.4125G>T (p.Glu1375Asp) | gnomAD v4 |
16 | g.2088602T>A | CA394316276 | TSC2 | c.*3765T>A (n.*3765T>A) c.5263T>A (p.Phe1755Ile) c.5413T>A (p.Phe1805Ile) c.*5929T>A (n.*5929T>A) c.*8165T>A (n.*8165T>A) c.5416T>A (p.Phe1806Ile) c.5347T>A (p.Phe1783Ile) c.5215T>A (p.Phe1739Ile) c.5248T>A (p.Phe1750Ile) c.1639T>A n.3298T>A c.4070T>A c.5275T>A (p.Phe1759Ile) n.1013T>A c.5218T>A (p.Phe1740Ile) c.5284T>A (p.Phe1762Ile) c.5209T>A (p.Phe1737Ile) n.3064T>A c.5341T>A (p.Phe1781Ile) c.5287T>A (p.Phe1763Ile) c.5302T>A (p.Phe1768Ile) c.5212T>A (p.Phe1738Ile) c.5337T>A c.5410T>A (p.Phe1804Ile) n.4231T>A n.2668T>A n.2639T>A n.2529T>A c.5071T>A (p.Phe1691Ile) c.*4583T>A (n.*4583T>A) c.5107T>A (p.Phe1703Ile) n.3139T>A c.1598T>A n.2531T>A c.5470T>A (p.Phe1824Ile) c.5467T>A (p.Phe1823Ile) c.5359T>A (p.Phe1787Ile) c.5338T>A (p.Phe1780Ile) c.4684T>A (p.Phe1562Ile) c.5632T>A (p.Phe1878Ile) c.5380T>A (p.Phe1794Ile) c.4126T>A (p.Phe1376Ile) | |
16 | g.2088602T>C | CA16615055 | TSC2 | c.*3765T>C (n.*3765T>C) c.5263T>C (p.Phe1755Leu) c.5413T>C (p.Phe1805Leu) c.*5929T>C (n.*5929T>C) c.*8165T>C (n.*8165T>C) c.5416T>C (p.Phe1806Leu) c.5347T>C (p.Phe1783Leu) c.5215T>C (p.Phe1739Leu) c.5248T>C (p.Phe1750Leu) c.1639T>C n.3298T>C c.4070T>C c.5275T>C (p.Phe1759Leu) n.1013T>C c.5218T>C (p.Phe1740Leu) c.5284T>C (p.Phe1762Leu) c.5209T>C (p.Phe1737Leu) n.3064T>C c.5341T>C (p.Phe1781Leu) c.5287T>C (p.Phe1763Leu) c.5302T>C (p.Phe1768Leu) c.5212T>C (p.Phe1738Leu) c.5337T>C c.5410T>C (p.Phe1804Leu) n.4231T>C n.2668T>C n.2639T>C n.2529T>C c.5071T>C (p.Phe1691Leu) c.*4583T>C (n.*4583T>C) c.5107T>C (p.Phe1703Leu) n.3139T>C c.1598T>C n.2531T>C c.5470T>C (p.Phe1824Leu) c.5467T>C (p.Phe1823Leu) c.5359T>C (p.Phe1787Leu) c.5338T>C (p.Phe1780Leu) c.4684T>C (p.Phe1562Leu) c.5632T>C (p.Phe1878Leu) c.5380T>C (p.Phe1794Leu) c.4126T>C (p.Phe1376Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088602T>G | CA394316278 | TSC2 | c.*3765T>G (n.*3765T>G) c.5263T>G (p.Phe1755Val) c.5413T>G (p.Phe1805Val) c.*5929T>G (n.*5929T>G) c.*8165T>G (n.*8165T>G) c.5416T>G (p.Phe1806Val) c.5347T>G (p.Phe1783Val) c.5215T>G (p.Phe1739Val) c.5248T>G (p.Phe1750Val) c.1639T>G n.3298T>G c.4070T>G c.5275T>G (p.Phe1759Val) n.1013T>G c.5218T>G (p.Phe1740Val) c.5284T>G (p.Phe1762Val) c.5209T>G (p.Phe1737Val) n.3064T>G c.5341T>G (p.Phe1781Val) c.5287T>G (p.Phe1763Val) c.5302T>G (p.Phe1768Val) c.5212T>G (p.Phe1738Val) c.5337T>G c.5410T>G (p.Phe1804Val) n.4231T>G n.2668T>G n.2639T>G n.2529T>G c.5071T>G (p.Phe1691Val) c.*4583T>G (n.*4583T>G) c.5107T>G (p.Phe1703Val) n.3139T>G c.1598T>G n.2531T>G c.5470T>G (p.Phe1824Val) c.5467T>G (p.Phe1823Val) c.5359T>G (p.Phe1787Val) c.5338T>G (p.Phe1780Val) c.4684T>G (p.Phe1562Val) c.5632T>G (p.Phe1878Val) c.5380T>G (p.Phe1794Val) c.4126T>G (p.Phe1376Val) | |
16 | g.2088602T= | CA2202034580 | TSC2 | c.*3765T= (n.*3765T=) c.5263T= (p.Phe1755=) c.5413T= (p.Phe1805=) c.*5929T= (n.*5929T=) c.*8165T= (n.*8165T=) c.5416T= (p.Phe1806=) c.5347T= (p.Phe1783=) c.5215T= (p.Phe1739=) c.5248T= (p.Phe1750=) c.1639T= n.3298T= c.4070T= c.5275T= (p.Phe1759=) n.1013T= c.5218T= (p.Phe1740=) c.5284T= (p.Phe1762=) c.5209T= (p.Phe1737=) n.3064T= c.5341T= (p.Phe1781=) c.5287T= (p.Phe1763=) c.5302T= (p.Phe1768=) c.5212T= (p.Phe1738=) c.5337T= c.5410T= (p.Phe1804=) n.4231T= n.2668T= n.2639T= n.2529T= c.5071T= (p.Phe1691=) c.*4583T= (n.*4583T=) c.5107T= (p.Phe1703=) n.3139T= c.1598T= n.2531T= c.5470T= (p.Phe1824=) c.5467T= (p.Phe1823=) c.5359T= (p.Phe1787=) c.5338T= (p.Phe1780=) c.4684T= (p.Phe1562=) c.5632T= (p.Phe1878=) c.5380T= (p.Phe1794=) c.4126T= (p.Phe1376=) | |
16 | g.2088603_2088604del | CA2740096844 | TSC2 | c.*3766_*3767del (n.*3766_*3767del) c.5264_5265del (p.Phe1755CysfsTer?) c.5414_5415del (p.Phe1805CysfsTer?) c.*5930_*5931del (n.*5930_*5931del) c.*8166_*8167del (n.*8166_*8167del) c.5417_5418del (p.Phe1806CysfsTer?) c.5348_5349del (p.Phe1783CysfsTer?) c.5216_5217del (p.Phe1739CysfsTer?) c.5249_5250del (p.Phe1750CysfsTer?) c.1640_1641del n.3299_3300del c.4071_4072del c.5276_5277del (p.Phe1759CysfsTer?) n.1014_1015del c.5219_5220del (p.Phe1740CysfsTer?) c.5285_5286del (p.Phe1762CysfsTer?) c.5210_5211del (p.Phe1737CysfsTer?) n.3065_3066del c.5342_5343del (p.Phe1781CysfsTer?) c.5288_5289del (p.Phe1763CysfsTer?) c.5303_5304del (p.Phe1768CysfsTer?) c.5213_5214del (p.Phe1738CysfsTer?) c.5338_5339del c.5411_5412del (p.Phe1804CysfsTer?) n.4232_4233del n.2669_2670del n.2640_2641del n.2530_2531del c.5072_5073del (p.Phe1691CysfsTer?) c.*4584_*4585del (n.*4584_*4585del) c.5108_5109del (p.Phe1703CysfsTer?) n.3140_3141del c.1599_1600del n.2532_2533del c.5471_5472del (p.Phe1824CysfsTer?) c.5468_5469del (p.Phe1823CysfsTer?) c.5360_5361del (p.Phe1787CysfsTer?) c.5339_5340del (p.Phe1780CysfsTer?) c.4685_4686del (p.Phe1562CysfsTer?) c.5633_5634del (p.Phe1878CysfsTer?) c.5381_5382del (p.Phe1794CysfsTer?) c.4127_4128del (p.Phe1376CysfsTer?) | ClinVar |
16 | g.2088603T>A | CA394316282 | TSC2 | c.*3766T>A (n.*3766T>A) c.5264T>A (p.Phe1755Tyr) c.5414T>A (p.Phe1805Tyr) c.*5930T>A (n.*5930T>A) c.*8166T>A (n.*8166T>A) c.5417T>A (p.Phe1806Tyr) c.5348T>A (p.Phe1783Tyr) c.5216T>A (p.Phe1739Tyr) c.5249T>A (p.Phe1750Tyr) c.1640T>A n.3299T>A c.4071T>A c.5276T>A (p.Phe1759Tyr) n.1014T>A c.5219T>A (p.Phe1740Tyr) c.5285T>A (p.Phe1762Tyr) c.5210T>A (p.Phe1737Tyr) n.3065T>A c.5342T>A (p.Phe1781Tyr) c.5288T>A (p.Phe1763Tyr) c.5303T>A (p.Phe1768Tyr) c.5213T>A (p.Phe1738Tyr) c.5338T>A c.5411T>A (p.Phe1804Tyr) n.4232T>A n.2669T>A n.2640T>A n.2530T>A c.5072T>A (p.Phe1691Tyr) c.*4584T>A (n.*4584T>A) c.5108T>A (p.Phe1703Tyr) n.3140T>A c.1599T>A n.2532T>A c.5471T>A (p.Phe1824Tyr) c.5468T>A (p.Phe1823Tyr) c.5360T>A (p.Phe1787Tyr) c.5339T>A (p.Phe1780Tyr) c.4685T>A (p.Phe1562Tyr) c.5633T>A (p.Phe1878Tyr) c.5381T>A (p.Phe1794Tyr) c.4127T>A (p.Phe1376Tyr) | |
16 | g.2088603T>C | CA394316285 | TSC2 | c.*3766T>C (n.*3766T>C) c.5264T>C (p.Phe1755Ser) c.5414T>C (p.Phe1805Ser) c.*5930T>C (n.*5930T>C) c.*8166T>C (n.*8166T>C) c.5417T>C (p.Phe1806Ser) c.5348T>C (p.Phe1783Ser) c.5216T>C (p.Phe1739Ser) c.5249T>C (p.Phe1750Ser) c.1640T>C n.3299T>C c.4071T>C c.5276T>C (p.Phe1759Ser) n.1014T>C c.5219T>C (p.Phe1740Ser) c.5285T>C (p.Phe1762Ser) c.5210T>C (p.Phe1737Ser) n.3065T>C c.5342T>C (p.Phe1781Ser) c.5288T>C (p.Phe1763Ser) c.5303T>C (p.Phe1768Ser) c.5213T>C (p.Phe1738Ser) c.5338T>C c.5411T>C (p.Phe1804Ser) n.4232T>C n.2669T>C n.2640T>C n.2530T>C c.5072T>C (p.Phe1691Ser) c.*4584T>C (n.*4584T>C) c.5108T>C (p.Phe1703Ser) n.3140T>C c.1599T>C n.2532T>C c.5471T>C (p.Phe1824Ser) c.5468T>C (p.Phe1823Ser) c.5360T>C (p.Phe1787Ser) c.5339T>C (p.Phe1780Ser) c.4685T>C (p.Phe1562Ser) c.5633T>C (p.Phe1878Ser) c.5381T>C (p.Phe1794Ser) c.4127T>C (p.Phe1376Ser) | |
16 | g.2088603T>G | CA394316287 | TSC2 | c.*3766T>G (n.*3766T>G) c.5264T>G (p.Phe1755Cys) c.5414T>G (p.Phe1805Cys) c.*5930T>G (n.*5930T>G) c.*8166T>G (n.*8166T>G) c.5417T>G (p.Phe1806Cys) c.5348T>G (p.Phe1783Cys) c.5216T>G (p.Phe1739Cys) c.5249T>G (p.Phe1750Cys) c.1640T>G n.3299T>G c.4071T>G c.5276T>G (p.Phe1759Cys) n.1014T>G c.5219T>G (p.Phe1740Cys) c.5285T>G (p.Phe1762Cys) c.5210T>G (p.Phe1737Cys) n.3065T>G c.5342T>G (p.Phe1781Cys) c.5288T>G (p.Phe1763Cys) c.5303T>G (p.Phe1768Cys) c.5213T>G (p.Phe1738Cys) c.5338T>G c.5411T>G (p.Phe1804Cys) n.4232T>G n.2669T>G n.2640T>G n.2530T>G c.5072T>G (p.Phe1691Cys) c.*4584T>G (n.*4584T>G) c.5108T>G (p.Phe1703Cys) n.3140T>G c.1599T>G n.2532T>G c.5471T>G (p.Phe1824Cys) c.5468T>G (p.Phe1823Cys) c.5360T>G (p.Phe1787Cys) c.5339T>G (p.Phe1780Cys) c.4685T>G (p.Phe1562Cys) c.5633T>G (p.Phe1878Cys) c.5381T>G (p.Phe1794Cys) c.4127T>G (p.Phe1376Cys) | ClinVar gnomAD v4 |
16 | g.2088603_2088607delinsTTGTG | CA2202034582 | TSC2 | c.*3766_*3770delinsTTGTG (n.*3766_*3770delinsTTGTG) c.5264_5268delinsTTGTG (p.Phe1755=) c.5414_5418delinsTTGTG (p.Phe1805=) c.*5930_*5934delinsTTGTG (n.*5930_*5934delinsTTGTG) c.*8166_*8170delinsTTGTG (n.*8166_*8170delinsTTGTG) c.5417_5421delinsTTGTG (p.Phe1806=) c.5348_5352delinsTTGTG (p.Phe1783=) c.5216_5220delinsTTGTG (p.Phe1739=) c.5249_5253delinsTTGTG (p.Phe1750=) c.1640_1644delinsTTGTG n.3299_3303delinsTTGTG c.4071_4075delinsTTGTG c.5276_5280delinsTTGTG (p.Phe1759=) n.1014_1018delinsTTGTG c.5219_5223delinsTTGTG (p.Phe1740=) c.5285_5289delinsTTGTG (p.Phe1762=) c.5210_5214delinsTTGTG (p.Phe1737=) n.3065_3069delinsTTGTG c.5342_5346delinsTTGTG (p.Phe1781=) c.5288_5292delinsTTGTG (p.Phe1763=) c.5303_5307delinsTTGTG (p.Phe1768=) c.5213_5217delinsTTGTG (p.Phe1738=) c.5338_5342delinsTTGTG c.5411_5415delinsTTGTG (p.Phe1804=) n.4232_4236delinsTTGTG n.2669_2673delinsTTGTG n.2640_2644delinsTTGTG n.2530_2534delinsTTGTG c.5072_5076delinsTTGTG (p.Phe1691=) c.*4584_*4588delinsTTGTG (n.*4584_*4588delinsTTGTG) c.5108_5112delinsTTGTG (p.Phe1703=) n.3140_3144delinsTTGTG c.1599_1603delinsTTGTG n.2532_2536delinsTTGTG c.5471_5475delinsTTGTG (p.Phe1824=) c.5468_5472delinsTTGTG (p.Phe1823=) c.5360_5364delinsTTGTG (p.Phe1787=) c.5339_5343delinsTTGTG (p.Phe1780=) c.4685_4689delinsTTGTG (p.Phe1562=) c.5633_5637delinsTTGTG (p.Phe1878=) c.5381_5385delinsTTGTG (p.Phe1794=) c.4127_4131delinsTTGTG (p.Phe1376=) | |
16 | g.2088604T>A | CA394316293 | TSC2 | c.*3767T>A (n.*3767T>A) c.5265T>A (p.Phe1755Leu) c.5415T>A (p.Phe1805Leu) c.*5931T>A (n.*5931T>A) c.*8167T>A (n.*8167T>A) c.5418T>A (p.Phe1806Leu) c.5349T>A (p.Phe1783Leu) c.5217T>A (p.Phe1739Leu) c.5250T>A (p.Phe1750Leu) c.1641T>A n.3300T>A c.4072T>A c.5277T>A (p.Phe1759Leu) n.1015T>A c.5220T>A (p.Phe1740Leu) c.5286T>A (p.Phe1762Leu) c.5211T>A (p.Phe1737Leu) n.3066T>A c.5343T>A (p.Phe1781Leu) c.5289T>A (p.Phe1763Leu) c.5304T>A (p.Phe1768Leu) c.5214T>A (p.Phe1738Leu) c.5339T>A c.5412T>A (p.Phe1804Leu) n.4233T>A n.2670T>A n.2641T>A n.2531T>A c.5073T>A (p.Phe1691Leu) c.*4585T>A (n.*4585T>A) c.5109T>A (p.Phe1703Leu) n.3141T>A c.1600T>A n.2533T>A c.5472T>A (p.Phe1824Leu) c.5469T>A (p.Phe1823Leu) c.5361T>A (p.Phe1787Leu) c.5340T>A (p.Phe1780Leu) c.4686T>A (p.Phe1562Leu) c.5634T>A (p.Phe1878Leu) c.5382T>A (p.Phe1794Leu) c.4128T>A (p.Phe1376Leu) | |
16 | g.2088604T>C | CA493043867 | TSC2 | c.*3767T>C (n.*3767T>C) c.5265T>C (p.Phe1755=) c.5415T>C (p.Phe1805=) c.*5931T>C (n.*5931T>C) c.*8167T>C (n.*8167T>C) c.5418T>C (p.Phe1806=) c.5349T>C (p.Phe1783=) c.5217T>C (p.Phe1739=) c.5250T>C (p.Phe1750=) c.1641T>C n.3300T>C c.4072T>C c.5277T>C (p.Phe1759=) n.1015T>C c.5220T>C (p.Phe1740=) c.5286T>C (p.Phe1762=) c.5211T>C (p.Phe1737=) n.3066T>C c.5343T>C (p.Phe1781=) c.5289T>C (p.Phe1763=) c.5304T>C (p.Phe1768=) c.5214T>C (p.Phe1738=) c.5339T>C c.5412T>C (p.Phe1804=) n.4233T>C n.2670T>C n.2641T>C n.2531T>C c.5073T>C (p.Phe1691=) c.*4585T>C (n.*4585T>C) c.5109T>C (p.Phe1703=) n.3141T>C c.1600T>C n.2533T>C c.5472T>C (p.Phe1824=) c.5469T>C (p.Phe1823=) c.5361T>C (p.Phe1787=) c.5340T>C (p.Phe1780=) c.4686T>C (p.Phe1562=) c.5634T>C (p.Phe1878=) c.5382T>C (p.Phe1794=) c.4128T>C (p.Phe1376=) | |
16 | g.2088604T>G | CA022504 | TSC2 | c.*3767T>G (n.*3767T>G) c.5265T>G (p.Phe1755Leu) c.5415T>G (p.Phe1805Leu) c.*5931T>G (n.*5931T>G) c.*8167T>G (n.*8167T>G) c.5418T>G (p.Phe1806Leu) c.5349T>G (p.Phe1783Leu) c.5217T>G (p.Phe1739Leu) c.5250T>G (p.Phe1750Leu) c.1641T>G n.3300T>G c.4072T>G c.5277T>G (p.Phe1759Leu) n.1015T>G c.5220T>G (p.Phe1740Leu) c.5286T>G (p.Phe1762Leu) c.5211T>G (p.Phe1737Leu) n.3066T>G c.5343T>G (p.Phe1781Leu) c.5289T>G (p.Phe1763Leu) c.5304T>G (p.Phe1768Leu) c.5214T>G (p.Phe1738Leu) c.5339T>G c.5412T>G (p.Phe1804Leu) n.4233T>G n.2670T>G n.2641T>G n.2531T>G c.5073T>G (p.Phe1691Leu) c.*4585T>G (n.*4585T>G) c.5109T>G (p.Phe1703Leu) n.3141T>G c.1600T>G n.2533T>G c.5472T>G (p.Phe1824Leu) c.5469T>G (p.Phe1823Leu) c.5361T>G (p.Phe1787Leu) c.5340T>G (p.Phe1780Leu) c.4686T>G (p.Phe1562Leu) c.5634T>G (p.Phe1878Leu) c.5382T>G (p.Phe1794Leu) c.4128T>G (p.Phe1376Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088604T= | CA2202034597 | TSC2 | c.*3767T= (n.*3767T=) c.5265T= (p.Phe1755=) c.5415T= (p.Phe1805=) c.*5931T= (n.*5931T=) c.*8167T= (n.*8167T=) c.5418T= (p.Phe1806=) c.5349T= (p.Phe1783=) c.5217T= (p.Phe1739=) c.5250T= (p.Phe1750=) c.1641T= n.3300T= c.4072T= c.5277T= (p.Phe1759=) n.1015T= c.5220T= (p.Phe1740=) c.5286T= (p.Phe1762=) c.5211T= (p.Phe1737=) n.3066T= c.5343T= (p.Phe1781=) c.5289T= (p.Phe1763=) c.5304T= (p.Phe1768=) c.5214T= (p.Phe1738=) c.5339T= c.5412T= (p.Phe1804=) n.4233T= n.2670T= n.2641T= n.2531T= c.5073T= (p.Phe1691=) c.*4585T= (n.*4585T=) c.5109T= (p.Phe1703=) n.3141T= c.1600T= n.2533T= c.5472T= (p.Phe1824=) c.5469T= (p.Phe1823=) c.5361T= (p.Phe1787=) c.5340T= (p.Phe1780=) c.4686T= (p.Phe1562=) c.5634T= (p.Phe1878=) c.5382T= (p.Phe1794=) c.4128T= (p.Phe1376=) | |
16 | g.2088608_2088609del | CA022520 | TSC2 | c.*3771_*3772del (n.*3771_*3772del) c.5269_5270del (p.Ter1757ArgextTer?) c.5419_5420del (p.Ter1807ArgextTer?) c.*5935_*5936del (n.*5935_*5936del) c.*8171_*8172del (n.*8171_*8172del) c.5422_5423del (p.Ter1808ArgextTer?) c.5353_5354del (p.Ter1785ArgextTer?) c.5221_5222del (p.Ter1741ArgextTer?) c.5254_5255del (p.Ter1752ArgextTer?) c.1645_1646del n.3304_3305del c.4076_4077del c.5281_5282del (p.Ter1761ArgextTer?) n.1019_1020del c.5224_5225del (p.Ter1742ArgextTer?) c.5290_5291del (p.Ter1764ArgextTer?) c.5215_5216del (p.Ter1739ArgextTer?) n.3070_3071del c.5347_5348del (p.Ter1783ArgextTer?) c.5293_5294del (p.Ter1765ArgextTer?) c.5308_5309del (p.Ter1770ArgextTer?) c.5218_5219del (p.Ter1740ArgextTer?) c.5343_5344del c.5416_5417del (p.Ter1806ArgextTer?) n.4237_4238del n.2674_2675del n.2645_2646del n.2535_2536del c.5077_5078del (p.Ter1693ArgextTer?) c.*4589_*4590del (n.*4589_*4590del) c.5113_5114del (p.Ter1705ArgextTer?) n.3145_3146del c.1604_1605del n.2537_2538del c.5476_5477del (p.Ter1826ArgextTer?) c.5473_5474del (p.Ter1825ArgextTer?) c.5365_5366del (p.Ter1789ArgextTer?) c.5344_5345del (p.Ter1782ArgextTer?) c.4690_4691del (p.Ter1564ArgextTer?) c.5638_5639del (p.Ter1880ArgextTer?) c.5386_5387del (p.Ter1796ArgextTer?) c.4132_4133del (p.Ter1378ArgextTer?) | ClinVar dbSNP |
16 | g.2088606_2088609del | CA022512 | TSC2 | c.*3769_*3772del (n.*3769_*3772del) c.5267_5270del (p.Val1756GlufsTer18) c.5417_5420del (p.Val1806GlufsTer18) c.*5933_*5936del (n.*5933_*5936del) c.*8169_*8172del (n.*8169_*8172del) c.5420_5423del (p.Val1807GlufsTer18) c.5351_5354del (p.Val1784GlufsTer18) c.5219_5222del (p.Val1740GlufsTer18) c.5252_5255del (p.Val1751GlufsTer18) c.1643_1646del n.3302_3305del c.4074_4077del c.5279_5282del (p.Val1760GlufsTer18) n.1017_1020del c.5222_5225del (p.Val1741GlufsTer18) c.5288_5291del (p.Val1763GlufsTer18) c.5213_5216del (p.Val1738GlufsTer18) n.3068_3071del c.5345_5348del (p.Val1782GlufsTer18) c.5291_5294del (p.Val1764GlufsTer18) c.5306_5309del (p.Val1769GlufsTer18) c.5216_5219del (p.Val1739GlufsTer18) c.5341_5344del c.5414_5417del (p.Val1805GlufsTer18) n.4235_4238del n.2672_2675del n.2643_2646del n.2533_2536del c.5075_5078del (p.Val1692GlufsTer18) c.*4587_*4590del (n.*4587_*4590del) c.5111_5114del (p.Val1704GlufsTer18) n.3143_3146del c.1602_1605del n.2535_2538del c.5474_5477del (p.Val1825GlufsTer18) c.5471_5474del (p.Val1824GlufsTer18) c.5363_5366del (p.Val1788GlufsTer18) c.5342_5345del (p.Val1781GlufsTer18) c.4688_4691del (p.Val1563GlufsTer18) c.5636_5639del (p.Val1879GlufsTer18) c.5384_5387del (p.Val1795GlufsTer18) c.4130_4133del (p.Val1377GlufsTer18) | ClinVar dbSNP gnomAD v4 |
16 | g.2088604_2088605insTG | CA2825002360 | TSC2 | c.*3767_*3768insTG (n.*3767_*3768insTG) c.5265_5266insTG (p.Val1756TrpfsTer20) c.5415_5416insTG (p.Val1806TrpfsTer20) c.*5931_*5932insTG (n.*5931_*5932insTG) c.*8167_*8168insTG (n.*8167_*8168insTG) c.5418_5419insTG (p.Val1807TrpfsTer20) c.5349_5350insTG (p.Val1784TrpfsTer20) c.5217_5218insTG (p.Val1740TrpfsTer20) c.5250_5251insTG (p.Val1751TrpfsTer20) c.1641_1642insTG n.3300_3301insTG c.4072_4073insTG c.5277_5278insTG (p.Val1760TrpfsTer20) n.1015_1016insTG c.5220_5221insTG (p.Val1741TrpfsTer20) c.5286_5287insTG (p.Val1763TrpfsTer20) c.5211_5212insTG (p.Val1738TrpfsTer20) n.3066_3067insTG c.5343_5344insTG (p.Val1782TrpfsTer20) c.5289_5290insTG (p.Val1764TrpfsTer20) c.5304_5305insTG (p.Val1769TrpfsTer20) c.5214_5215insTG (p.Val1739TrpfsTer20) c.5339_5340insTG c.5412_5413insTG (p.Val1805TrpfsTer20) n.4233_4234insTG n.2670_2671insTG n.2641_2642insTG n.2531_2532insTG c.5073_5074insTG (p.Val1692TrpfsTer20) c.*4585_*4586insTG (n.*4585_*4586insTG) c.5109_5110insTG (p.Val1704TrpfsTer20) n.3141_3142insTG c.1600_1601insTG n.2533_2534insTG c.5472_5473insTG (p.Val1825TrpfsTer20) c.5469_5470insTG (p.Val1824TrpfsTer20) c.5361_5362insTG (p.Val1788TrpfsTer20) c.5340_5341insTG (p.Val1781TrpfsTer20) c.4686_4687insTG (p.Val1563TrpfsTer20) c.5634_5635insTG (p.Val1879TrpfsTer20) c.5382_5383insTG (p.Val1795TrpfsTer20) c.4128_4129insTG (p.Val1377TrpfsTer20) | ClinVar |
16 | g.2088605G>A | CA394316316 | TSC2 | c.*3768G>A (n.*3768G>A) c.5266G>A (p.Val1756Met) c.5416G>A (p.Val1806Met) c.*5932G>A (n.*5932G>A) c.*8168G>A (n.*8168G>A) c.5419G>A (p.Val1807Met) c.5350G>A (p.Val1784Met) c.5218G>A (p.Val1740Met) c.5251G>A (p.Val1751Met) c.1642G>A n.3301G>A c.4073G>A c.5278G>A (p.Val1760Met) n.1016G>A c.5221G>A (p.Val1741Met) c.5287G>A (p.Val1763Met) c.5212G>A (p.Val1738Met) n.3067G>A c.5344G>A (p.Val1782Met) c.5290G>A (p.Val1764Met) c.5305G>A (p.Val1769Met) c.5215G>A (p.Val1739Met) c.5340G>A c.5413G>A (p.Val1805Met) n.4234G>A n.2671G>A n.2642G>A n.2532G>A c.5074G>A (p.Val1692Met) c.*4586G>A (n.*4586G>A) c.5110G>A (p.Val1704Met) n.3142G>A c.1601G>A n.2534G>A c.5473G>A (p.Val1825Met) c.5470G>A (p.Val1824Met) c.5362G>A (p.Val1788Met) c.5341G>A (p.Val1781Met) c.4687G>A (p.Val1563Met) c.5635G>A (p.Val1879Met) c.5383G>A (p.Val1795Met) c.4129G>A (p.Val1377Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088605G>C | CA394316312 | TSC2 | c.*3768G>C (n.*3768G>C) c.5266G>C (p.Val1756Leu) c.5416G>C (p.Val1806Leu) c.*5932G>C (n.*5932G>C) c.*8168G>C (n.*8168G>C) c.5419G>C (p.Val1807Leu) c.5350G>C (p.Val1784Leu) c.5218G>C (p.Val1740Leu) c.5251G>C (p.Val1751Leu) c.1642G>C n.3301G>C c.4073G>C c.5278G>C (p.Val1760Leu) n.1016G>C c.5221G>C (p.Val1741Leu) c.5287G>C (p.Val1763Leu) c.5212G>C (p.Val1738Leu) n.3067G>C c.5344G>C (p.Val1782Leu) c.5290G>C (p.Val1764Leu) c.5305G>C (p.Val1769Leu) c.5215G>C (p.Val1739Leu) c.5340G>C c.5413G>C (p.Val1805Leu) n.4234G>C n.2671G>C n.2642G>C n.2532G>C c.5074G>C (p.Val1692Leu) c.*4586G>C (n.*4586G>C) c.5110G>C (p.Val1704Leu) n.3142G>C c.1601G>C n.2534G>C c.5473G>C (p.Val1825Leu) c.5470G>C (p.Val1824Leu) c.5362G>C (p.Val1788Leu) c.5341G>C (p.Val1781Leu) c.4687G>C (p.Val1563Leu) c.5635G>C (p.Val1879Leu) c.5383G>C (p.Val1795Leu) c.4129G>C (p.Val1377Leu) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088605G= | CA2202034604 | TSC2 | c.*3768G= (n.*3768G=) c.5266G= (p.Val1756=) c.5416G= (p.Val1806=) c.*5932G= (n.*5932G=) c.*8168G= (n.*8168G=) c.5419G= (p.Val1807=) c.5350G= (p.Val1784=) c.5218G= (p.Val1740=) c.5251G= (p.Val1751=) c.1642G= n.3301G= c.4073G= c.5278G= (p.Val1760=) n.1016G= c.5221G= (p.Val1741=) c.5287G= (p.Val1763=) c.5212G= (p.Val1738=) n.3067G= c.5344G= (p.Val1782=) c.5290G= (p.Val1764=) c.5305G= (p.Val1769=) c.5215G= (p.Val1739=) c.5340G= c.5413G= (p.Val1805=) n.4234G= n.2671G= n.2642G= n.2532G= c.5074G= (p.Val1692=) c.*4586G= (n.*4586G=) c.5110G= (p.Val1704=) n.3142G= c.1601G= n.2534G= c.5473G= (p.Val1825=) c.5470G= (p.Val1824=) c.5362G= (p.Val1788=) c.5341G= (p.Val1781=) c.4687G= (p.Val1563=) c.5635G= (p.Val1879=) c.5383G= (p.Val1795=) c.4129G= (p.Val1377=) | |
16 | g.2088605G>T | CA022509 | TSC2 | c.*3768G>T (n.*3768G>T) c.5266G>T (p.Val1756Leu) c.5416G>T (p.Val1806Leu) c.*5932G>T (n.*5932G>T) c.*8168G>T (n.*8168G>T) c.5419G>T (p.Val1807Leu) c.5350G>T (p.Val1784Leu) c.5218G>T (p.Val1740Leu) c.5251G>T (p.Val1751Leu) c.1642G>T n.3301G>T c.4073G>T c.5278G>T (p.Val1760Leu) n.1016G>T c.5221G>T (p.Val1741Leu) c.5287G>T (p.Val1763Leu) c.5212G>T (p.Val1738Leu) n.3067G>T c.5344G>T (p.Val1782Leu) c.5290G>T (p.Val1764Leu) c.5305G>T (p.Val1769Leu) c.5215G>T (p.Val1739Leu) c.5340G>T c.5413G>T (p.Val1805Leu) n.4234G>T n.2671G>T n.2642G>T n.2532G>T c.5074G>T (p.Val1692Leu) c.*4586G>T (n.*4586G>T) c.5110G>T (p.Val1704Leu) n.3142G>T c.1601G>T n.2534G>T c.5473G>T (p.Val1825Leu) c.5470G>T (p.Val1824Leu) c.5362G>T (p.Val1788Leu) c.5341G>T (p.Val1781Leu) c.4687G>T (p.Val1563Leu) c.5635G>T (p.Val1879Leu) c.5383G>T (p.Val1795Leu) c.4129G>T (p.Val1377Leu) | ClinVar dbSNP gnomAD v4 |
16 | g.2088606T>A | CA394316319 | TSC2 | c.*3769T>A (n.*3769T>A) c.5267T>A (p.Val1756Glu) c.5417T>A (p.Val1806Glu) c.*5933T>A (n.*5933T>A) c.*8169T>A (n.*8169T>A) c.5420T>A (p.Val1807Glu) c.5351T>A (p.Val1784Glu) c.5219T>A (p.Val1740Glu) c.5252T>A (p.Val1751Glu) c.1643T>A n.3302T>A c.4074T>A c.5279T>A (p.Val1760Glu) n.1017T>A c.5222T>A (p.Val1741Glu) c.5288T>A (p.Val1763Glu) c.5213T>A (p.Val1738Glu) n.3068T>A c.5345T>A (p.Val1782Glu) c.5291T>A (p.Val1764Glu) c.5306T>A (p.Val1769Glu) c.5216T>A (p.Val1739Glu) c.5341T>A c.5414T>A (p.Val1805Glu) n.4235T>A n.2672T>A n.2643T>A n.2533T>A c.5075T>A (p.Val1692Glu) c.*4587T>A (n.*4587T>A) c.5111T>A (p.Val1704Glu) n.3143T>A c.1602T>A n.2535T>A c.5474T>A (p.Val1825Glu) c.5471T>A (p.Val1824Glu) c.5363T>A (p.Val1788Glu) c.5342T>A (p.Val1781Glu) c.4688T>A (p.Val1563Glu) c.5636T>A (p.Val1879Glu) c.5384T>A (p.Val1795Glu) c.4130T>A (p.Val1377Glu) | |
16 | g.2088606T>C | CA394316321 | TSC2 | c.*3769T>C (n.*3769T>C) c.5267T>C (p.Val1756Ala) c.5417T>C (p.Val1806Ala) c.*5933T>C (n.*5933T>C) c.*8169T>C (n.*8169T>C) c.5420T>C (p.Val1807Ala) c.5351T>C (p.Val1784Ala) c.5219T>C (p.Val1740Ala) c.5252T>C (p.Val1751Ala) c.1643T>C n.3302T>C c.4074T>C c.5279T>C (p.Val1760Ala) n.1017T>C c.5222T>C (p.Val1741Ala) c.5288T>C (p.Val1763Ala) c.5213T>C (p.Val1738Ala) n.3068T>C c.5345T>C (p.Val1782Ala) c.5291T>C (p.Val1764Ala) c.5306T>C (p.Val1769Ala) c.5216T>C (p.Val1739Ala) c.5341T>C c.5414T>C (p.Val1805Ala) n.4235T>C n.2672T>C n.2643T>C n.2533T>C c.5075T>C (p.Val1692Ala) c.*4587T>C (n.*4587T>C) c.5111T>C (p.Val1704Ala) n.3143T>C c.1602T>C n.2535T>C c.5474T>C (p.Val1825Ala) c.5471T>C (p.Val1824Ala) c.5363T>C (p.Val1788Ala) c.5342T>C (p.Val1781Ala) c.4688T>C (p.Val1563Ala) c.5636T>C (p.Val1879Ala) c.5384T>C (p.Val1795Ala) c.4130T>C (p.Val1377Ala) | ClinVar |
16 | g.2088606T>G | CA394316323 | TSC2 | c.*3769T>G (n.*3769T>G) c.5267T>G (p.Val1756Gly) c.5417T>G (p.Val1806Gly) c.*5933T>G (n.*5933T>G) c.*8169T>G (n.*8169T>G) c.5420T>G (p.Val1807Gly) c.5351T>G (p.Val1784Gly) c.5219T>G (p.Val1740Gly) c.5252T>G (p.Val1751Gly) c.1643T>G n.3302T>G c.4074T>G c.5279T>G (p.Val1760Gly) n.1017T>G c.5222T>G (p.Val1741Gly) c.5288T>G (p.Val1763Gly) c.5213T>G (p.Val1738Gly) n.3068T>G c.5345T>G (p.Val1782Gly) c.5291T>G (p.Val1764Gly) c.5306T>G (p.Val1769Gly) c.5216T>G (p.Val1739Gly) c.5341T>G c.5414T>G (p.Val1805Gly) n.4235T>G n.2672T>G n.2643T>G n.2533T>G c.5075T>G (p.Val1692Gly) c.*4587T>G (n.*4587T>G) c.5111T>G (p.Val1704Gly) n.3143T>G c.1602T>G n.2535T>G c.5474T>G (p.Val1825Gly) c.5471T>G (p.Val1824Gly) c.5363T>G (p.Val1788Gly) c.5342T>G (p.Val1781Gly) c.4688T>G (p.Val1563Gly) c.5636T>G (p.Val1879Gly) c.5384T>G (p.Val1795Gly) c.4130T>G (p.Val1377Gly) | |
16 | g.2088607G>A | CA493043873 | TSC2 | c.*3770G>A (n.*3770G>A) c.5268G>A (p.Val1756=) c.5418G>A (p.Val1806=) c.*5934G>A (n.*5934G>A) c.*8170G>A (n.*8170G>A) c.5421G>A (p.Val1807=) c.5352G>A (p.Val1784=) c.5220G>A (p.Val1740=) c.5253G>A (p.Val1751=) c.1644G>A n.3303G>A c.4075G>A c.5280G>A (p.Val1760=) n.1018G>A c.5223G>A (p.Val1741=) c.5289G>A (p.Val1763=) c.5214G>A (p.Val1738=) n.3069G>A c.5346G>A (p.Val1782=) c.5292G>A (p.Val1764=) c.5307G>A (p.Val1769=) c.5217G>A (p.Val1739=) c.5342G>A c.5415G>A (p.Val1805=) n.4236G>A n.2673G>A n.2644G>A n.2534G>A c.5076G>A (p.Val1692=) c.*4588G>A (n.*4588G>A) c.5112G>A (p.Val1704=) n.3144G>A c.1603G>A n.2536G>A c.5475G>A (p.Val1825=) c.5472G>A (p.Val1824=) c.5364G>A (p.Val1788=) c.5343G>A (p.Val1781=) c.4689G>A (p.Val1563=) c.5637G>A (p.Val1879=) c.5385G>A (p.Val1795=) c.4131G>A (p.Val1377=) | ClinVar dbSNP gnomAD v4 |
16 | g.2088607G>C | CA493043875 | TSC2 | c.*3770G>C (n.*3770G>C) c.5268G>C (p.Val1756=) c.5418G>C (p.Val1806=) c.*5934G>C (n.*5934G>C) c.*8170G>C (n.*8170G>C) c.5421G>C (p.Val1807=) c.5352G>C (p.Val1784=) c.5220G>C (p.Val1740=) c.5253G>C (p.Val1751=) c.1644G>C n.3303G>C c.4075G>C c.5280G>C (p.Val1760=) n.1018G>C c.5223G>C (p.Val1741=) c.5289G>C (p.Val1763=) c.5214G>C (p.Val1738=) n.3069G>C c.5346G>C (p.Val1782=) c.5292G>C (p.Val1764=) c.5307G>C (p.Val1769=) c.5217G>C (p.Val1739=) c.5342G>C c.5415G>C (p.Val1805=) n.4236G>C n.2673G>C n.2644G>C n.2534G>C c.5076G>C (p.Val1692=) c.*4588G>C (n.*4588G>C) c.5112G>C (p.Val1704=) n.3144G>C c.1603G>C n.2536G>C c.5475G>C (p.Val1825=) c.5472G>C (p.Val1824=) c.5364G>C (p.Val1788=) c.5343G>C (p.Val1781=) c.4689G>C (p.Val1563=) c.5637G>C (p.Val1879=) c.5385G>C (p.Val1795=) c.4131G>C (p.Val1377=) | |
16 | g.2088607G= | CA2202034615 | TSC2 | c.*3770G= (n.*3770G=) c.5268G= (p.Val1756=) c.5418G= (p.Val1806=) c.*5934G= (n.*5934G=) c.*8170G= (n.*8170G=) c.5421G= (p.Val1807=) c.5352G= (p.Val1784=) c.5220G= (p.Val1740=) c.5253G= (p.Val1751=) c.1644G= n.3303G= c.4075G= c.5280G= (p.Val1760=) n.1018G= c.5223G= (p.Val1741=) c.5289G= (p.Val1763=) c.5214G= (p.Val1738=) n.3069G= c.5346G= (p.Val1782=) c.5292G= (p.Val1764=) c.5307G= (p.Val1769=) c.5217G= (p.Val1739=) c.5342G= c.5415G= (p.Val1805=) n.4236G= n.2673G= n.2644G= n.2534G= c.5076G= (p.Val1692=) c.*4588G= (n.*4588G=) c.5112G= (p.Val1704=) n.3144G= c.1603G= n.2536G= c.5475G= (p.Val1825=) c.5472G= (p.Val1824=) c.5364G= (p.Val1788=) c.5343G= (p.Val1781=) c.4689G= (p.Val1563=) c.5637G= (p.Val1879=) c.5385G= (p.Val1795=) c.4131G= (p.Val1377=) | |
16 | g.2088607G>T | CA493043878 | TSC2 | c.*3770G>T (n.*3770G>T) c.5268G>T (p.Val1756=) c.5418G>T (p.Val1806=) c.*5934G>T (n.*5934G>T) c.*8170G>T (n.*8170G>T) c.5421G>T (p.Val1807=) c.5352G>T (p.Val1784=) c.5220G>T (p.Val1740=) c.5253G>T (p.Val1751=) c.1644G>T n.3303G>T c.4075G>T c.5280G>T (p.Val1760=) n.1018G>T c.5223G>T (p.Val1741=) c.5289G>T (p.Val1763=) c.5214G>T (p.Val1738=) n.3069G>T c.5346G>T (p.Val1782=) c.5292G>T (p.Val1764=) c.5307G>T (p.Val1769=) c.5217G>T (p.Val1739=) c.5342G>T c.5415G>T (p.Val1805=) n.4236G>T n.2673G>T n.2644G>T n.2534G>T c.5076G>T (p.Val1692=) c.*4588G>T (n.*4588G>T) c.5112G>T (p.Val1704=) n.3144G>T c.1603G>T n.2536G>T c.5475G>T (p.Val1825=) c.5472G>T (p.Val1824=) c.5364G>T (p.Val1788=) c.5343G>T (p.Val1781=) c.4689G>T (p.Val1563=) c.5637G>T (p.Val1879=) c.5385G>T (p.Val1795=) c.4131G>T (p.Val1377=) | ClinVar gnomAD v4 |
16 | g.2088607_2088613dup | CA2631120171 | TSC2 | c.*3770_*3776dup (n.*3770_*3776dup) c.5268_*3dup (n.5268_*3dup) c.5418_*3dup (n.5418_*3dup) c.*5934_*5940dup (n.*5934_*5940dup) c.*8170_*8176dup (n.*8170_*8176dup) c.5421_*3dup (n.5421_*3dup) c.5352_*3dup (n.5352_*3dup) c.5220_*3dup (n.5220_*3dup) c.5253_*3dup (n.5253_*3dup) c.1644_1650dup n.3303_3309dup c.4075_4081dup c.5280_*3dup (n.5280_*3dup) n.1018_1024dup c.5223_*3dup (n.5223_*3dup) c.5289_*3dup (n.5289_*3dup) c.5214_*3dup (n.5214_*3dup) n.3069_3075dup c.5346_*3dup (n.5346_*3dup) c.5292_*3dup (n.5292_*3dup) c.5307_*3dup (n.5307_*3dup) c.5217_*3dup (n.5217_*3dup) c.5342_5348dup c.5415_*3dup (n.5415_*3dup) n.4236_4242dup n.2673_2679dup n.2644_2650dup n.2534_2540dup c.5076_*3dup (n.5076_*3dup) c.*4588_*4594dup (n.*4588_*4594dup) c.5112_*3dup (n.5112_*3dup) n.3144_3150dup c.1603_1609dup n.2536_2542dup c.5475_*3dup (n.5475_*3dup) c.5472_*3dup (n.5472_*3dup) c.5364_*3dup (n.5364_*3dup) c.5343_*3dup (n.5343_*3dup) c.4689_*3dup (n.4689_*3dup) c.5637_*3dup (n.5637_*3dup) c.5385_*3dup (n.5385_*3dup) c.4131_*3dup (n.4131_*3dup) | gnomAD v4 |
16 | g.2088608T>A | CA394316328 | TSC2 | c.*3771T>A (n.*3771T>A) c.5269T>A (p.Ter1757Arg) c.5419T>A (p.Ter1807Arg) c.*5935T>A (n.*5935T>A) c.*8171T>A (n.*8171T>A) c.5422T>A (p.Ter1808Arg) c.5353T>A (p.Ter1785Arg) c.5221T>A (p.Ter1741Arg) c.5254T>A (p.Ter1752Arg) c.1645T>A n.3304T>A c.4076T>A c.5281T>A (p.Ter1761Arg) n.1019T>A c.5224T>A (p.Ter1742Arg) c.5290T>A (p.Ter1764Arg) c.5215T>A (p.Ter1739Arg) n.3070T>A c.5347T>A (p.Ter1783Arg) c.5293T>A (p.Ter1765Arg) c.5308T>A (p.Ter1770Arg) c.5218T>A (p.Ter1740Arg) c.5343T>A c.5416T>A (p.Ter1806Arg) n.4237T>A n.2674T>A n.2645T>A n.2535T>A c.5077T>A (p.Ter1693Arg) c.*4589T>A (n.*4589T>A) c.5113T>A (p.Ter1705Arg) n.3145T>A c.1604T>A n.2537T>A c.5476T>A (p.Ter1826Arg) c.5473T>A (p.Ter1825Arg) c.5365T>A (p.Ter1789Arg) c.5344T>A (p.Ter1782Arg) c.4690T>A (p.Ter1564Arg) c.5638T>A (p.Ter1880Arg) c.5386T>A (p.Ter1796Arg) c.4132T>A (p.Ter1378Arg) | ClinVar dbSNP gnomAD v4 |
16 | g.2088608T>C | CA394316330 | TSC2 | c.*3771T>C (n.*3771T>C) c.5269T>C (p.Ter1757Arg) c.5419T>C (p.Ter1807Arg) c.*5935T>C (n.*5935T>C) c.*8171T>C (n.*8171T>C) c.5422T>C (p.Ter1808Arg) c.5353T>C (p.Ter1785Arg) c.5221T>C (p.Ter1741Arg) c.5254T>C (p.Ter1752Arg) c.1645T>C n.3304T>C c.4076T>C c.5281T>C (p.Ter1761Arg) n.1019T>C c.5224T>C (p.Ter1742Arg) c.5290T>C (p.Ter1764Arg) c.5215T>C (p.Ter1739Arg) n.3070T>C c.5347T>C (p.Ter1783Arg) c.5293T>C (p.Ter1765Arg) c.5308T>C (p.Ter1770Arg) c.5218T>C (p.Ter1740Arg) c.5343T>C c.5416T>C (p.Ter1806Arg) n.4237T>C n.2674T>C n.2645T>C n.2535T>C c.5077T>C (p.Ter1693Arg) c.*4589T>C (n.*4589T>C) c.5113T>C (p.Ter1705Arg) n.3145T>C c.1604T>C n.2537T>C c.5476T>C (p.Ter1826Arg) c.5473T>C (p.Ter1825Arg) c.5365T>C (p.Ter1789Arg) c.5344T>C (p.Ter1782Arg) c.4690T>C (p.Ter1564Arg) c.5638T>C (p.Ter1880Arg) c.5386T>C (p.Ter1796Arg) c.4132T>C (p.Ter1378Arg) | ClinVar |
16 | g.2088608T>G | CA394316333 | TSC2 | c.*3771T>G (n.*3771T>G) c.5269T>G (p.Ter1757Gly) c.5419T>G (p.Ter1807Gly) c.*5935T>G (n.*5935T>G) c.*8171T>G (n.*8171T>G) c.5422T>G (p.Ter1808Gly) c.5353T>G (p.Ter1785Gly) c.5221T>G (p.Ter1741Gly) c.5254T>G (p.Ter1752Gly) c.1645T>G n.3304T>G c.4076T>G c.5281T>G (p.Ter1761Gly) n.1019T>G c.5224T>G (p.Ter1742Gly) c.5290T>G (p.Ter1764Gly) c.5215T>G (p.Ter1739Gly) n.3070T>G c.5347T>G (p.Ter1783Gly) c.5293T>G (p.Ter1765Gly) c.5308T>G (p.Ter1770Gly) c.5218T>G (p.Ter1740Gly) c.5343T>G c.5416T>G (p.Ter1806Gly) n.4237T>G n.2674T>G n.2645T>G n.2535T>G c.5077T>G (p.Ter1693Gly) c.*4589T>G (n.*4589T>G) c.5113T>G (p.Ter1705Gly) n.3145T>G c.1604T>G n.2537T>G c.5476T>G (p.Ter1826Gly) c.5473T>G (p.Ter1825Gly) c.5365T>G (p.Ter1789Gly) c.5344T>G (p.Ter1782Gly) c.4690T>G (p.Ter1564Gly) c.5638T>G (p.Ter1880Gly) c.5386T>G (p.Ter1796Gly) c.4132T>G (p.Ter1378Gly) | |
16 | g.2088608T= | CA2202034631 | TSC2 | c.*3771T= (n.*3771T=) c.5269T= (p.Ter1757=) c.5419T= (p.Ter1807=) c.*5935T= (n.*5935T=) c.*8171T= (n.*8171T=) c.5422T= (p.Ter1808=) c.5353T= (p.Ter1785=) c.5221T= (p.Ter1741=) c.5254T= (p.Ter1752=) c.1645T= n.3304T= c.4076T= c.5281T= (p.Ter1761=) n.1019T= c.5224T= (p.Ter1742=) c.5290T= (p.Ter1764=) c.5215T= (p.Ter1739=) n.3070T= c.5347T= (p.Ter1783=) c.5293T= (p.Ter1765=) c.5308T= (p.Ter1770=) c.5218T= (p.Ter1740=) c.5343T= c.5416T= (p.Ter1806=) n.4237T= n.2674T= n.2645T= n.2535T= c.5077T= (p.Ter1693=) c.*4589T= (n.*4589T=) c.5113T= (p.Ter1705=) n.3145T= c.1604T= n.2537T= c.5476T= (p.Ter1826=) c.5473T= (p.Ter1825=) c.5365T= (p.Ter1789=) c.5344T= (p.Ter1782=) c.4690T= (p.Ter1564=) c.5638T= (p.Ter1880=) c.5386T= (p.Ter1796=) c.4132T= (p.Ter1378=) | |
16 | g.2088609G>A | CA055372 | TSC2 | c.*3772G>A (n.*3772G>A) c.5270G>A (p.Ter1757=) c.5420G>A (p.Ter1807=) c.*5936G>A (n.*5936G>A) c.*8172G>A (n.*8172G>A) c.5423G>A (p.Ter1808=) c.5354G>A (p.Ter1785=) c.5222G>A (p.Ter1741=) c.5255G>A (p.Ter1752=) c.1646G>A n.3305G>A c.4077G>A c.5282G>A (p.Ter1761=) n.1020G>A c.5225G>A (p.Ter1742=) c.5291G>A (p.Ter1764=) c.5216G>A (p.Ter1739=) n.3071G>A c.5348G>A (p.Ter1783=) c.5294G>A (p.Ter1765=) c.5309G>A (p.Ter1770=) c.5219G>A (p.Ter1740=) c.5344G>A c.5417G>A (p.Ter1806=) n.4238G>A n.2675G>A n.2646G>A n.2536G>A c.5078G>A (p.Ter1693=) c.*4590G>A (n.*4590G>A) c.5114G>A (p.Ter1705=) n.3146G>A c.1605G>A n.2538G>A c.5477G>A (p.Ter1826=) c.5474G>A (p.Ter1825=) c.5366G>A (p.Ter1789=) c.5345G>A (p.Ter1782=) c.4691G>A (p.Ter1564=) c.5639G>A (p.Ter1880=) c.5387G>A (p.Ter1796=) c.4133G>A (p.Ter1378=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2088609G>C | CA394316339 | TSC2 | c.*3772G>C (n.*3772G>C) c.5270G>C (p.Ter1757Ser) c.5420G>C (p.Ter1807Ser) c.*5936G>C (n.*5936G>C) c.*8172G>C (n.*8172G>C) c.5423G>C (p.Ter1808Ser) c.5354G>C (p.Ter1785Ser) c.5222G>C (p.Ter1741Ser) c.5255G>C (p.Ter1752Ser) c.1646G>C n.3305G>C c.4077G>C c.5282G>C (p.Ter1761Ser) n.1020G>C c.5225G>C (p.Ter1742Ser) c.5291G>C (p.Ter1764Ser) c.5216G>C (p.Ter1739Ser) n.3071G>C c.5348G>C (p.Ter1783Ser) c.5294G>C (p.Ter1765Ser) c.5309G>C (p.Ter1770Ser) c.5219G>C (p.Ter1740Ser) c.5344G>C c.5417G>C (p.Ter1806Ser) n.4238G>C n.2675G>C n.2646G>C n.2536G>C c.5078G>C (p.Ter1693Ser) c.*4590G>C (n.*4590G>C) c.5114G>C (p.Ter1705Ser) n.3146G>C c.1605G>C n.2538G>C c.5477G>C (p.Ter1826Ser) c.5474G>C (p.Ter1825Ser) c.5366G>C (p.Ter1789Ser) c.5345G>C (p.Ter1782Ser) c.4691G>C (p.Ter1564Ser) c.5639G>C (p.Ter1880Ser) c.5387G>C (p.Ter1796Ser) c.4133G>C (p.Ter1378Ser) | |
16 | g.2088609G= | CA2202034640 | TSC2 | c.*3772G= (n.*3772G=) c.5270G= (p.Ter1757=) c.5420G= (p.Ter1807=) c.*5936G= (n.*5936G=) c.*8172G= (n.*8172G=) c.5423G= (p.Ter1808=) c.5354G= (p.Ter1785=) c.5222G= (p.Ter1741=) c.5255G= (p.Ter1752=) c.1646G= n.3305G= c.4077G= c.5282G= (p.Ter1761=) n.1020G= c.5225G= (p.Ter1742=) c.5291G= (p.Ter1764=) c.5216G= (p.Ter1739=) n.3071G= c.5348G= (p.Ter1783=) c.5294G= (p.Ter1765=) c.5309G= (p.Ter1770=) c.5219G= (p.Ter1740=) c.5344G= c.5417G= (p.Ter1806=) n.4238G= n.2675G= n.2646G= n.2536G= c.5078G= (p.Ter1693=) c.*4590G= (n.*4590G=) c.5114G= (p.Ter1705=) n.3146G= c.1605G= n.2538G= c.5477G= (p.Ter1826=) c.5474G= (p.Ter1825=) c.5366G= (p.Ter1789=) c.5345G= (p.Ter1782=) c.4691G= (p.Ter1564=) c.5639G= (p.Ter1880=) c.5387G= (p.Ter1796=) c.4133G= (p.Ter1378=) | |
16 | g.2088609G>T | CA394316336 | TSC2 | c.*3772G>T (n.*3772G>T) c.5270G>T (p.Ter1757Leu) c.5420G>T (p.Ter1807Leu) c.*5936G>T (n.*5936G>T) c.*8172G>T (n.*8172G>T) c.5423G>T (p.Ter1808Leu) c.5354G>T (p.Ter1785Leu) c.5222G>T (p.Ter1741Leu) c.5255G>T (p.Ter1752Leu) c.1646G>T n.3305G>T c.4077G>T c.5282G>T (p.Ter1761Leu) n.1020G>T c.5225G>T (p.Ter1742Leu) c.5291G>T (p.Ter1764Leu) c.5216G>T (p.Ter1739Leu) n.3071G>T c.5348G>T (p.Ter1783Leu) c.5294G>T (p.Ter1765Leu) c.5309G>T (p.Ter1770Leu) c.5219G>T (p.Ter1740Leu) c.5344G>T c.5417G>T (p.Ter1806Leu) n.4238G>T n.2675G>T n.2646G>T n.2536G>T c.5078G>T (p.Ter1693Leu) c.*4590G>T (n.*4590G>T) c.5114G>T (p.Ter1705Leu) n.3146G>T c.1605G>T n.2538G>T c.5477G>T (p.Ter1826Leu) c.5474G>T (p.Ter1825Leu) c.5366G>T (p.Ter1789Leu) c.5345G>T (p.Ter1782Leu) c.4691G>T (p.Ter1564Leu) c.5639G>T (p.Ter1880Leu) c.5387G>T (p.Ter1796Leu) c.4133G>T (p.Ter1378Leu) | gnomAD v4 |
16 | g.2088610A>C | CA394316342 | TSC2 | c.*3773A>C (n.*3773A>C) c.5271A>C (p.Ter1757Cys) c.5421A>C (p.Ter1807Cys) c.*5937A>C (n.*5937A>C) c.*8173A>C (n.*8173A>C) c.5424A>C (p.Ter1808Cys) c.5355A>C (p.Ter1785Cys) c.5223A>C (p.Ter1741Cys) c.5256A>C (p.Ter1752Cys) c.1647A>C n.3306A>C c.4078A>C c.5283A>C (p.Ter1761Cys) n.1021A>C c.5226A>C (p.Ter1742Cys) c.5292A>C (p.Ter1764Cys) c.5217A>C (p.Ter1739Cys) n.3072A>C c.5349A>C (p.Ter1783Cys) c.5295A>C (p.Ter1765Cys) c.5310A>C (p.Ter1770Cys) c.5220A>C (p.Ter1740Cys) c.5345A>C c.5418A>C (p.Ter1806Cys) n.4239A>C n.2676A>C n.2647A>C n.2537A>C c.5079A>C (p.Ter1693Cys) c.*4591A>C (n.*4591A>C) c.5115A>C (p.Ter1705Cys) n.3147A>C c.1606A>C n.2539A>C c.5478A>C (p.Ter1826Cys) c.5475A>C (p.Ter1825Cys) c.5367A>C (p.Ter1789Cys) c.5346A>C (p.Ter1782Cys) c.4692A>C (p.Ter1564Cys) c.5640A>C (p.Ter1880Cys) c.5388A>C (p.Ter1796Cys) c.4134A>C (p.Ter1378Cys) | |
16 | g.2088610A>G | CA394316346 | TSC2 | c.*3773A>G (n.*3773A>G) c.5271A>G (p.Ter1757Trp) c.5421A>G (p.Ter1807Trp) c.*5937A>G (n.*5937A>G) c.*8173A>G (n.*8173A>G) c.5424A>G (p.Ter1808Trp) c.5355A>G (p.Ter1785Trp) c.5223A>G (p.Ter1741Trp) c.5256A>G (p.Ter1752Trp) c.1647A>G n.3306A>G c.4078A>G c.5283A>G (p.Ter1761Trp) n.1021A>G c.5226A>G (p.Ter1742Trp) c.5292A>G (p.Ter1764Trp) c.5217A>G (p.Ter1739Trp) n.3072A>G c.5349A>G (p.Ter1783Trp) c.5295A>G (p.Ter1765Trp) c.5310A>G (p.Ter1770Trp) c.5220A>G (p.Ter1740Trp) c.5345A>G c.5418A>G (p.Ter1806Trp) n.4239A>G n.2676A>G n.2647A>G n.2537A>G c.5079A>G (p.Ter1693Trp) c.*4591A>G (n.*4591A>G) c.5115A>G (p.Ter1705Trp) n.3147A>G c.1606A>G n.2539A>G c.5478A>G (p.Ter1826Trp) c.5475A>G (p.Ter1825Trp) c.5367A>G (p.Ter1789Trp) c.5346A>G (p.Ter1782Trp) c.4692A>G (p.Ter1564Trp) c.5640A>G (p.Ter1880Trp) c.5388A>G (p.Ter1796Trp) c.4134A>G (p.Ter1378Trp) | dbSNP |
16 | g.2088610A>T | CA394316345 | TSC2 | c.*3773A>T (n.*3773A>T) c.5271A>T (p.Ter1757Cys) c.5421A>T (p.Ter1807Cys) c.*5937A>T (n.*5937A>T) c.*8173A>T (n.*8173A>T) c.5424A>T (p.Ter1808Cys) c.5355A>T (p.Ter1785Cys) c.5223A>T (p.Ter1741Cys) c.5256A>T (p.Ter1752Cys) c.1647A>T n.3306A>T c.4078A>T c.5283A>T (p.Ter1761Cys) n.1021A>T c.5226A>T (p.Ter1742Cys) c.5292A>T (p.Ter1764Cys) c.5217A>T (p.Ter1739Cys) n.3072A>T c.5349A>T (p.Ter1783Cys) c.5295A>T (p.Ter1765Cys) c.5310A>T (p.Ter1770Cys) c.5220A>T (p.Ter1740Cys) c.5345A>T c.5418A>T (p.Ter1806Cys) n.4239A>T n.2676A>T n.2647A>T n.2537A>T c.5079A>T (p.Ter1693Cys) c.*4591A>T (n.*4591A>T) c.5115A>T (p.Ter1705Cys) n.3147A>T c.1606A>T n.2539A>T c.5478A>T (p.Ter1826Cys) c.5475A>T (p.Ter1825Cys) c.5367A>T (p.Ter1789Cys) c.5346A>T (p.Ter1782Cys) c.4692A>T (p.Ter1564Cys) c.5640A>T (p.Ter1880Cys) c.5388A>T (p.Ter1796Cys) c.4134A>T (p.Ter1378Cys) | |
16 | g.2088611G>A | CA035509 | TSC2 | c.*3774G>A (n.*3774G>A) c.*1G>A (n.*1G>A) c.*5938G>A (n.*5938G>A) c.*8174G>A (n.*8174G>A) c.1648G>A n.3307G>A c.4079G>A n.1022G>A n.3073G>A c.5346G>A n.4240G>A n.2677G>A n.2648G>A n.2538G>A c.*4592G>A (n.*4592G>A) n.3148G>A c.1607G>A n.2540G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088611G>C | CA035540 | TSC2 | c.*3774G>C (n.*3774G>C) c.*1G>C (n.*1G>C) c.*5938G>C (n.*5938G>C) c.*8174G>C (n.*8174G>C) c.1648G>C n.3307G>C c.4079G>C n.1022G>C n.3073G>C c.5346G>C n.4240G>C n.2677G>C n.2648G>C n.2538G>C c.*4592G>C (n.*4592G>C) n.3148G>C c.1607G>C n.2540G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2088611G= | CA2202034643 | TSC2 | c.*3774G= (n.*3774G=) c.*1G= (n.*1G=) c.*5938G= (n.*5938G=) c.*8174G= (n.*8174G=) c.1648G= n.3307G= c.4079G= n.1022G= n.3073G= c.5346G= n.4240G= n.2677G= n.2648G= n.2538G= c.*4592G= (n.*4592G=) n.3148G= c.1607G= n.2540G= | |
16 | g.2088612G>A | CA620705137 | TSC2 | c.*3775G>A (n.*3775G>A) c.*2G>A (n.*2G>A) c.*5939G>A (n.*5939G>A) c.*8175G>A (n.*8175G>A) c.1649G>A n.3308G>A c.4080G>A n.1023G>A n.3074G>A c.5347G>A n.4241G>A n.2678G>A n.2649G>A n.2539G>A c.*4593G>A (n.*4593G>A) n.3149G>A c.1608G>A n.2541G>A | dbSNP gnomAD v2 |
16 | g.2088612G= | CA2202034651 | TSC2 | c.*3775G= (n.*3775G=) c.*2G= (n.*2G=) c.*5939G= (n.*5939G=) c.*8175G= (n.*8175G=) c.1649G= n.3308G= c.4080G= n.1023G= n.3074G= c.5347G= n.4241G= n.2678G= n.2649G= n.2539G= c.*4593G= (n.*4593G=) n.3149G= c.1608G= n.2541G= | |
16 | g.2088612G>T | CA043732 | TSC2 | c.*3775G>T (n.*3775G>T) c.*2G>T (n.*2G>T) c.*5939G>T (n.*5939G>T) c.*8175G>T (n.*8175G>T) c.1649G>T n.3308G>T c.4080G>T n.1023G>T n.3074G>T c.5347G>T n.4241G>T n.2678G>T n.2649G>T n.2539G>T c.*4593G>T (n.*4593G>T) n.3149G>T c.1608G>T n.2541G>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
16 | g.2088612_2088613insT | CA656220803 | TSC2 | c.*3775_*3776insT (n.*3775_*3776insT) c.*2_*3insT (n.*2_*3insT) c.*5939_*5940insT (n.*5939_*5940insT) c.*8175_*8176insT (n.*8175_*8176insT) c.1649_1650insT n.3308_3309insT c.4080_4081insT n.1023_1024insT n.3074_3075insT c.5347_5348insT n.4241_4242insT n.2678_2679insT n.2649_2650insT n.2539_2540insT c.*4593_*4594insT (n.*4593_*4594insT) n.3149_3150insT c.1608_1609insT n.2541_2542insT | COSMIC |
16 | g.2088613C= | CA2202034658 | TSC2 | c.*3776C= (n.*3776C=) c.*3C= (n.*3C=) c.*5940C= (n.*5940C=) c.*8176C= (n.*8176C=) c.1650C= n.3309C= c.4081C= n.1024C= n.3075C= c.5348C= n.4242C= n.2679C= n.2650C= n.2540C= c.*4594C= (n.*4594C=) n.3150C= c.1609C= n.2542C= | |
16 | g.2088613C>T | CA049920 | TSC2 | c.*3776C>T (n.*3776C>T) c.*3C>T (n.*3C>T) c.*5940C>T (n.*5940C>T) c.*8176C>T (n.*8176C>T) c.1650C>T n.3309C>T c.4081C>T n.1024C>T n.3075C>T c.5348C>T n.4242C>T n.2679C>T n.2650C>T n.2540C>T c.*4594C>T (n.*4594C>T) n.3150C>T c.1609C>T n.2542C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088615_2088621del | CA2631120240 | TSC2 | c.*3778_*3784del (n.*3778_*3784del) c.*5_*11del (n.*5_*11del) c.*5942_*5948del (n.*5942_*5948del) c.*8178_*8184del (n.*8178_*8184del) c.1652_1658del n.3311_3317del c.4083_4089del n.1026_1032del n.3077_3083del c.5350_5356del n.4244_4250del n.2681_2687del n.2652_2658del n.2542_2548del c.*4596_*4602del (n.*4596_*4602del) n.3152_3158del c.1611_1617del n.2544_2550del | gnomAD v4 |
16 | g.2088614C>A | CA2631120248 | TSC2 | c.*3777C>A (n.*3777C>A) c.*4C>A (n.*4C>A) c.*5941C>A (n.*5941C>A) c.*8177C>A (n.*8177C>A) c.1651C>A n.3310C>A c.4082C>A n.1025C>A n.3076C>A c.5349C>A n.4243C>A n.2680C>A n.2651C>A n.2541C>A c.*4595C>A (n.*4595C>A) n.3151C>A c.1610C>A n.2543C>A | gnomAD v4 |
16 | g.2088614C= | CA2202034673 | TSC2 | c.*3777C= (n.*3777C=) c.*4C= (n.*4C=) c.*5941C= (n.*5941C=) c.*8177C= (n.*8177C=) c.1651C= n.3310C= c.4082C= n.1025C= n.3076C= c.5349C= n.4243C= n.2680C= n.2651C= n.2541C= c.*4595C= (n.*4595C=) n.3151C= c.1610C= n.2543C= | |
16 | g.2088614C>G | CA620705138 | TSC2 | c.*3777C>G (n.*3777C>G) c.*4C>G (n.*4C>G) c.*5941C>G (n.*5941C>G) c.*8177C>G (n.*8177C>G) c.1651C>G n.3310C>G c.4082C>G n.1025C>G n.3076C>G c.5349C>G n.4243C>G n.2680C>G n.2651C>G n.2541C>G c.*4595C>G (n.*4595C>G) n.3151C>G c.1610C>G n.2543C>G | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088614C>T | CA053458 | TSC2 | c.*3777C>T (n.*3777C>T) c.*4C>T (n.*4C>T) c.*5941C>T (n.*5941C>T) c.*8177C>T (n.*8177C>T) c.1651C>T n.3310C>T c.4082C>T n.1025C>T n.3076C>T c.5349C>T n.4243C>T n.2680C>T n.2651C>T n.2541C>T c.*4595C>T (n.*4595C>T) n.3151C>T c.1610C>T n.2543C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088615G>A | CA022652 | TSC2 | c.*3778G>A (n.*3778G>A) c.*5G>A (n.*5G>A) c.*5942G>A (n.*5942G>A) c.*8178G>A (n.*8178G>A) c.1652G>A n.3311G>A c.4083G>A n.1026G>A n.3077G>A c.5350G>A n.4244G>A n.2681G>A n.2652G>A n.2542G>A c.*4596G>A (n.*4596G>A) n.3152G>A c.1611G>A n.2544G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088615G>C | CA2631120272 | TSC2 | c.*3778G>C (n.*3778G>C) c.*5G>C (n.*5G>C) c.*5942G>C (n.*5942G>C) c.*8178G>C (n.*8178G>C) c.1652G>C n.3311G>C c.4083G>C n.1026G>C n.3077G>C c.5350G>C n.4244G>C n.2681G>C n.2652G>C n.2542G>C c.*4596G>C (n.*4596G>C) n.3152G>C c.1611G>C n.2544G>C | dbSNP gnomAD v4 |
16 | g.2088615G= | CA2202034677 | TSC2 | c.*3778G= (n.*3778G=) c.*5G= (n.*5G=) c.*5942G= (n.*5942G=) c.*8178G= (n.*8178G=) c.1652G= n.3311G= c.4083G= n.1026G= n.3077G= c.5350G= n.4244G= n.2681G= n.2652G= n.2542G= c.*4596G= (n.*4596G=) n.3152G= c.1611G= n.2544G= | |
16 | g.2088615G>T | CA620705139 | TSC2 | c.*3778G>T (n.*3778G>T) c.*5G>T (n.*5G>T) c.*5942G>T (n.*5942G>T) c.*8178G>T (n.*8178G>T) c.1652G>T n.3311G>T c.4083G>T n.1026G>T n.3077G>T c.5350G>T n.4244G>T n.2681G>T n.2652G>T n.2542G>T c.*4596G>T (n.*4596G>T) n.3152G>T c.1611G>T n.2544G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088618del | CA2631120256 | TSC2 | c.*3781del (n.*3781del) c.*8del (n.*8del) c.*5945del (n.*5945del) c.*8181del (n.*8181del) c.1655del n.3314del c.4086del n.1029del n.3080del c.5353del n.4247del n.2684del n.2655del n.2545del c.*4599del (n.*4599del) n.3155del c.1614del n.2547del | dbSNP gnomAD v4 |
16 | g.2088616G>A | CA022808 | TSC2 | c.*3779G>A (n.*3779G>A) c.*6G>A (n.*6G>A) c.*5943G>A (n.*5943G>A) c.*8179G>A (n.*8179G>A) c.1653G>A n.3312G>A c.4084G>A n.1027G>A n.3078G>A c.5351G>A n.4245G>A n.2682G>A n.2653G>A n.2543G>A c.*4597G>A (n.*4597G>A) n.3153G>A c.1612G>A n.2545G>A | ClinVar dbSNP |
16 | g.2088616G>C | CA718906077 | TSC2 | c.*3779G>C (n.*3779G>C) c.*6G>C (n.*6G>C) c.*5943G>C (n.*5943G>C) c.*8179G>C (n.*8179G>C) c.1653G>C n.3312G>C c.4084G>C n.1027G>C n.3078G>C c.5351G>C n.4245G>C n.2682G>C n.2653G>C n.2543G>C c.*4597G>C (n.*4597G>C) n.3153G>C c.1612G>C n.2545G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.2088616G= | CA2202034684 | TSC2 | c.*3779G= (n.*3779G=) c.*6G= (n.*6G=) c.*5943G= (n.*5943G=) c.*8179G= (n.*8179G=) c.1653G= n.3312G= c.4084G= n.1027G= n.3078G= c.5351G= n.4245G= n.2682G= n.2653G= n.2543G= c.*4597G= (n.*4597G=) n.3153G= c.1612G= n.2545G= | |
16 | g.2088616G>T | CA2631120276 | TSC2 | c.*3779G>T (n.*3779G>T) c.*6G>T (n.*6G>T) c.*5943G>T (n.*5943G>T) c.*8179G>T (n.*8179G>T) c.1653G>T n.3312G>T c.4084G>T n.1027G>T n.3078G>T c.5351G>T n.4245G>T n.2682G>T n.2653G>T n.2543G>T c.*4597G>T (n.*4597G>T) n.3153G>T c.1612G>T n.2545G>T | gnomAD v4 |
16 | g.2088617G>A | CA7828404 | TSC2 | c.*3780G>A (n.*3780G>A) c.*7G>A (n.*7G>A) c.*5944G>A (n.*5944G>A) c.*8180G>A (n.*8180G>A) c.1654G>A n.3313G>A c.4085G>A n.1028G>A n.3079G>A c.5352G>A n.4246G>A n.2683G>A n.2654G>A n.2544G>A c.*4598G>A (n.*4598G>A) n.3154G>A c.1613G>A n.2546G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088617G= | CA2202034697 | TSC2 | c.*3780G= (n.*3780G=) c.*7G= (n.*7G=) c.*5944G= (n.*5944G=) c.*8180G= (n.*8180G=) c.1654G= n.3313G= c.4085G= n.1028G= n.3079G= c.5352G= n.4246G= n.2683G= n.2654G= n.2544G= c.*4598G= (n.*4598G=) n.3154G= c.1613G= n.2546G= | |
16 | g.2088617G>T | CA2631120280 | TSC2 | c.*3780G>T (n.*3780G>T) c.*7G>T (n.*7G>T) c.*5944G>T (n.*5944G>T) c.*8180G>T (n.*8180G>T) c.1654G>T n.3313G>T c.4085G>T n.1028G>T n.3079G>T c.5352G>T n.4246G>T n.2683G>T n.2654G>T n.2544G>T c.*4598G>T (n.*4598G>T) n.3154G>T c.1613G>T n.2546G>T | gnomAD v4 |
16 | g.2088617_2088629delinsGGCCCTCCCTCCT | CA2202034691 | TSC2 | c.*3780_*3792delinsGGCCCTCCCTCCT (n.*3780_*3792delinsGGCCCTCCCTCCT) c.*7_*19delinsGGCCCTCCCTCCT (n.*7_*19delinsGGCCCTCCCTCCT) c.*5944_*5956delinsGGCCCTCCCTCCT (n.*5944_*5956delinsGGCCCTCCCTCCT) c.*8180_*8192delinsGGCCCTCCCTCCT (n.*8180_*8192delinsGGCCCTCCCTCCT) c.1654_1666delinsGGCCCTCCCTCCT n.3313_3325delinsGGCCCTCCCTCCT c.4085_4097delinsGGCCCTCCCTCCT n.1028_1040delinsGGCCCTCCCTCCT n.3079_3091delinsGGCCCTCCCTCCT c.5352_5364delinsGGCCCTCCCTCCT n.4246_4258delinsGGCCCTCCCTCCT n.2683_2695delinsGGCCCTCCCTCCT n.2654_2666delinsGGCCCTCCCTCCT n.2544_2556delinsGGCCCTCCCTCCT c.*4598_*4610delinsGGCCCTCCCTCCT (n.*4598_*4610delinsGGCCCTCCCTCCT) n.3154_3166delinsGGCCCTCCCTCCT c.1613_1625delinsGGCCCTCCCTCCT n.2546_2558delinsGGCCCTCCCTCCT | |
16 | g.2088618G>A | CA620705140 | TSC2 | c.*3781G>A (n.*3781G>A) c.*8G>A (n.*8G>A) c.*5945G>A (n.*5945G>A) c.*8181G>A (n.*8181G>A) c.1655G>A n.3314G>A c.4086G>A n.1029G>A n.3080G>A c.5353G>A n.4247G>A n.2684G>A n.2655G>A n.2545G>A c.*4599G>A (n.*4599G>A) n.3155G>A c.1614G>A n.2547G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088618G>C | CA276760223 | TSC2 | c.*3781G>C (n.*3781G>C) c.*8G>C (n.*8G>C) c.*5945G>C (n.*5945G>C) c.*8181G>C (n.*8181G>C) c.1655G>C n.3314G>C c.4086G>C n.1029G>C n.3080G>C c.5353G>C n.4247G>C n.2684G>C n.2655G>C n.2545G>C c.*4599G>C (n.*4599G>C) n.3155G>C c.1614G>C n.2547G>C | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2088618G= | CA2202034704 | TSC2 | c.*3781G= (n.*3781G=) c.*8G= (n.*8G=) c.*5945G= (n.*5945G=) c.*8181G= (n.*8181G=) c.1655G= n.3314G= c.4086G= n.1029G= n.3080G= c.5353G= n.4247G= n.2684G= n.2655G= n.2545G= c.*4599G= (n.*4599G=) n.3155G= c.1614G= n.2547G= | |
16 | g.2088618G>T | CA276760208 | TSC2 | c.*3781G>T (n.*3781G>T) c.*8G>T (n.*8G>T) c.*5945G>T (n.*5945G>T) c.*8181G>T (n.*8181G>T) c.1655G>T n.3314G>T c.4086G>T n.1029G>T n.3080G>T c.5353G>T n.4247G>T n.2684G>T n.2655G>T n.2545G>T c.*4599G>T (n.*4599G>T) n.3155G>T c.1614G>T n.2547G>T | dbSNP gnomAD v4 |
16 | g.2088620_2088631del | CA7828403 | TSC2 | c.*3783_*3794del (n.*3783_*3794del) c.*10_*21del (n.*10_*21del) c.*5947_*5958del (n.*5947_*5958del) c.*8183_*8194del (n.*8183_*8194del) c.1657_1668del n.3316_3327del c.4088_4099del n.1031_1042del n.3082_3093del c.5355_5366del n.4249_4260del n.2686_2697del n.2657_2668del n.2547_2558del c.*4601_*4612del (n.*4601_*4612del) n.3157_3168del c.1616_1627del n.2549_2560del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088619C>A | CA620705141 | TSC2 | c.*3782C>A (n.*3782C>A) c.*9C>A (n.*9C>A) c.*5946C>A (n.*5946C>A) c.*8182C>A (n.*8182C>A) c.1656C>A n.3315C>A c.4087C>A n.1030C>A n.3081C>A c.5354C>A n.4248C>A n.2685C>A n.2656C>A n.2546C>A c.*4600C>A (n.*4600C>A) n.3156C>A c.1615C>A n.2548C>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088619C= | CA2202034711 | TSC2 | c.*3782C= (n.*3782C=) c.*9C= (n.*9C=) c.*5946C= (n.*5946C=) c.*8182C= (n.*8182C=) c.1656C= n.3315C= c.4087C= n.1030C= n.3081C= c.5354C= n.4248C= n.2685C= n.2656C= n.2546C= c.*4600C= (n.*4600C=) n.3156C= c.1615C= n.2548C= | |
16 | g.2088619C>T | CA276760232 | TSC2 | c.*3782C>T (n.*3782C>T) c.*9C>T (n.*9C>T) c.*5946C>T (n.*5946C>T) c.*8182C>T (n.*8182C>T) c.1656C>T n.3315C>T c.4087C>T n.1030C>T n.3081C>T c.5354C>T n.4248C>T n.2685C>T n.2656C>T n.2546C>T c.*4600C>T (n.*4600C>T) n.3156C>T c.1615C>T n.2548C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088620C= | CA2202034713 | TSC2 | c.*3783C= (n.*3783C=) c.*10C= (n.*10C=) c.*5947C= (n.*5947C=) c.*8183C= (n.*8183C=) c.1657C= n.3316C= c.4088C= n.1031C= n.3082C= c.5355C= n.4249C= n.2686C= n.2657C= n.2547C= c.*4601C= (n.*4601C=) n.3157C= c.1616C= n.2549C= | |
16 | g.2088620C>G | CA028166 | TSC2 | c.*3783C>G (n.*3783C>G) c.*10C>G (n.*10C>G) c.*5947C>G (n.*5947C>G) c.*8183C>G (n.*8183C>G) c.1657C>G n.3316C>G c.4088C>G n.1031C>G n.3082C>G c.5355C>G n.4249C>G n.2686C>G n.2657C>G n.2547C>G c.*4601C>G (n.*4601C>G) n.3157C>G c.1616C>G n.2549C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088620C>T | CA276760238 | TSC2 | c.*3783C>T (n.*3783C>T) c.*10C>T (n.*10C>T) c.*5947C>T (n.*5947C>T) c.*8183C>T (n.*8183C>T) c.1657C>T n.3316C>T c.4088C>T n.1031C>T n.3082C>T c.5355C>T n.4249C>T n.2686C>T n.2657C>T n.2547C>T c.*4601C>T (n.*4601C>T) n.3157C>T c.1616C>T n.2549C>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088621C>A | CA2631120333 | TSC2 | c.*3784C>A (n.*3784C>A) c.*11C>A (n.*11C>A) c.*5948C>A (n.*5948C>A) c.*8184C>A (n.*8184C>A) c.1658C>A n.3317C>A c.4089C>A n.1032C>A n.3083C>A c.5356C>A n.4250C>A n.2687C>A n.2658C>A n.2548C>A c.*4602C>A (n.*4602C>A) n.3158C>A c.1617C>A n.2550C>A | gnomAD v4 |
16 | g.2088621C= | CA2202034715 | TSC2 | c.*3784C= (n.*3784C=) c.*11C= (n.*11C=) c.*5948C= (n.*5948C=) c.*8184C= (n.*8184C=) c.1658C= n.3317C= c.4089C= n.1032C= n.3083C= c.5356C= n.4250C= n.2687C= n.2658C= n.2548C= c.*4602C= (n.*4602C=) n.3158C= c.1617C= n.2550C= | |
16 | g.2088621C>G | CA028743 | TSC2 | c.*3784C>G (n.*3784C>G) c.*11C>G (n.*11C>G) c.*5948C>G (n.*5948C>G) c.*8184C>G (n.*8184C>G) c.1658C>G n.3317C>G c.4089C>G n.1032C>G n.3083C>G c.5356C>G n.4250C>G n.2687C>G n.2658C>G n.2548C>G c.*4602C>G (n.*4602C>G) n.3158C>G c.1617C>G n.2550C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2088621C>T | CA620705142 | TSC2 | c.*3784C>T (n.*3784C>T) c.*11C>T (n.*11C>T) c.*5948C>T (n.*5948C>T) c.*8184C>T (n.*8184C>T) c.1658C>T n.3317C>T c.4089C>T n.1032C>T n.3083C>T c.5356C>T n.4250C>T n.2687C>T n.2658C>T n.2548C>T c.*4602C>T (n.*4602C>T) n.3158C>T c.1617C>T n.2550C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088622T>C | CA2841530031 | TSC2 | c.*3785T>C (n.*3785T>C) c.*12T>C (n.*12T>C) c.*5949T>C (n.*5949T>C) c.*8185T>C (n.*8185T>C) c.1659T>C n.3318T>C c.4090T>C n.1033T>C n.3084T>C c.5357T>C n.4251T>C n.2688T>C n.2659T>C n.2549T>C c.*4603T>C (n.*4603T>C) n.3159T>C c.1618T>C n.2551T>C | |
16 | g.2088622T>G | CA029215 | TSC2 | c.*3785T>G (n.*3785T>G) c.*12T>G (n.*12T>G) c.*5949T>G (n.*5949T>G) c.*8185T>G (n.*8185T>G) c.1659T>G n.3318T>G c.4090T>G n.1033T>G n.3084T>G c.5357T>G n.4251T>G n.2688T>G n.2659T>G n.2549T>G c.*4603T>G (n.*4603T>G) n.3159T>G c.1618T>G n.2551T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088622T= | CA2202034718 | TSC2 | c.*3785T= (n.*3785T=) c.*12T= (n.*12T=) c.*5949T= (n.*5949T=) c.*8185T= (n.*8185T=) c.1659T= n.3318T= c.4090T= n.1033T= n.3084T= c.5357T= n.4251T= n.2688T= n.2659T= n.2549T= c.*4603T= (n.*4603T=) n.3159T= c.1618T= n.2551T= | |
16 | g.2088623C>A | CA620705143 | TSC2 | c.*3786C>A (n.*3786C>A) c.*13C>A (n.*13C>A) c.*5950C>A (n.*5950C>A) c.*8186C>A (n.*8186C>A) c.1660C>A n.3319C>A c.4091C>A n.1034C>A n.3085C>A c.5358C>A n.4252C>A n.2689C>A n.2660C>A n.2550C>A c.*4604C>A (n.*4604C>A) n.3160C>A c.1619C>A n.2552C>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088623C= | CA2202034723 | TSC2 | c.*3786C= (n.*3786C=) c.*13C= (n.*13C=) c.*5950C= (n.*5950C=) c.*8186C= (n.*8186C=) c.1660C= n.3319C= c.4091C= n.1034C= n.3085C= c.5358C= n.4252C= n.2689C= n.2660C= n.2550C= c.*4604C= (n.*4604C=) n.3160C= c.1619C= n.2552C= | |
16 | g.2088623C>G | CA030164 | TSC2 | c.*3786C>G (n.*3786C>G) c.*13C>G (n.*13C>G) c.*5950C>G (n.*5950C>G) c.*8186C>G (n.*8186C>G) c.1660C>G n.3319C>G c.4091C>G n.1034C>G n.3085C>G c.5358C>G n.4252C>G n.2689C>G n.2660C>G n.2550C>G c.*4604C>G (n.*4604C>G) n.3160C>G c.1619C>G n.2552C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2088623C>T | CA620705144 | TSC2 | c.*3786C>T (n.*3786C>T) c.*13C>T (n.*13C>T) c.*5950C>T (n.*5950C>T) c.*8186C>T (n.*8186C>T) c.1660C>T n.3319C>T c.4091C>T n.1034C>T n.3085C>T c.5358C>T n.4252C>T n.2689C>T n.2660C>T n.2550C>T c.*4604C>T (n.*4604C>T) n.3160C>T c.1619C>T n.2552C>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088625del | CA2631120339 | TSC2 | c.*3788del (n.*3788del) c.*15del (n.*15del) c.*5952del (n.*5952del) c.*8188del (n.*8188del) c.1662del n.3321del c.4093del n.1036del n.3087del c.5360del n.4254del n.2691del n.2662del n.2552del c.*4606del (n.*4606del) n.3162del c.1621del n.2554del | gnomAD v4 |