Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.2088516_2088525delCA2573151990TSC2c.*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
16g.2088523G>ACA276760043TSC2c.*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
16g.2088523G>CCA055156TSC2c.*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
16g.2088523G=CA2202033968TSC2c.*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=)
16g.2088523G>TCA394315644TSC2c.*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)
16g.2088524A=CA2202033981TSC2c.*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=)
16g.2088524A>CCA276760048TSC2c.*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
16g.2088524A>GCA394315648TSC2c.*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
16g.2088524A>TCA394315653TSC2c.*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)
16g.2088524_2088526delinsACTCA2202033986TSC2c.*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=)
16g.2088526_2088540dupCA2580091203TSC2c.*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
16g.2088525C>ACA394315654TSC2c.*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)
16g.2088525C=CA2202033997TSC2c.*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=)
16g.2088525C>GCA394315669TSC2c.*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)
16g.2088525C>TCA055164TSC2c.*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
16g.2088526_2088527delCA620705134TSC2c.*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
16g.2088525_2088557delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGGCA2202033996TSC2c.*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=)
16g.2088526T>ACA493043715TSC2c.*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
16g.2088526T>CCA493043716TSC2c.*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
16g.2088526T>GCA493043717TSC2c.*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
16g.2088526T=CA2202034009TSC2c.*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=)
16g.2088526_2088557delCA022400TSC2c.*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
16g.2088527C>ACA394315676TSC2c.*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
16g.2088527C=CA2202034016TSC2c.*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=)
16g.2088527C>GCA394315679TSC2c.*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
16g.2088527C>TCA394315682TSC2c.*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)
16g.2088528C>ACA394315685TSC2c.*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)
16g.2088528C=CA2202034022TSC2c.*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=)
16g.2088528C>GCA394315686TSC2c.*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)
16g.2088528C>TCA10583347TSC2c.*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
16g.2088529A=CA2202034024TSC2c.*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=)
16g.2088529A>CCA493043718TSC2c.*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
16g.2088529A>GCA055170TSC2c.*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
16g.2088529A>TCA493043719TSC2c.*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
16g.2088530delCA620705135TSC2c.*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
16g.2088530G>ACA394315690TSC2c.*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
16g.2088530G>CCA394315694TSC2c.*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
16g.2088530G=CA2202034030TSC2c.*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=)
16g.2088530G>TCA394315696TSC2c.*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
16g.2088531C>ACA394315699TSC2c.*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)
16g.2088531C=CA2202034043TSC2c.*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=)
16g.2088531C>GCA394315705TSC2c.*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
16g.2088531C>TCA394315700TSC2c.*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
16g.2088532C>ACA493043720TSC2c.*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
16g.2088532C=CA2202034051TSC2c.*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=)
16g.2088532C>GCA493043721TSC2c.*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
16g.2088532C>TCA055178TSC2c.*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
16g.2088533G>ACA055186TSC2c.*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
16g.2088533G>CCA394315713TSC2c.*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
16g.2088533G=CA2202034064TSC2c.*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=)
16g.2088533G>TCA394315717TSC2c.*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
16g.2088534A=CA2202034073TSC2c.*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=)
16g.2088534A>CCA394315721TSC2c.*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
16g.2088534A>GCA394315724TSC2c.*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
16g.2088534A>TCA394315727TSC2c.*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)
16g.2088535G>ACA493043722TSC2c.*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
16g.2088535G>CCA394315730TSC2c.*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)
16g.2088535G=CA2202034081TSC2c.*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=)
16g.2088535G>TCA394315728TSC2c.*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
16g.2088535_2088536insACA620705136TSC2c.*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
16g.2088536C>ACA394315734TSC2c.*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
16g.2088536C=CA2202034089TSC2c.*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=)
16g.2088536C>GCA394315736TSC2c.*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)
16g.2088536C>TCA394315737TSC2c.*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
16g.2088537C>ACA394315740TSC2c.*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)
16g.2088537C>GCA394315742TSC2c.*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)
16g.2088537C>TCA394315743TSC2c.*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)
16g.2088538C>ACA493043723TSC2c.*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
16g.2088538C=CA2202034101TSC2c.*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=)
16g.2088538C>GCA493043724TSC2c.*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
16g.2088538C>TCA493043725TSC2c.*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
16g.2088539A=CA2202034116TSC2c.*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=)
16g.2088539A>CCA394315744TSC2c.*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
16g.2088539A>GCA394315757TSC2c.*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
16g.2088539A>TCA394315746TSC2c.*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
16g.2088540C>ACA394315758TSC2c.*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)
16g.2088540C>GCA394315759TSC2c.*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)
16g.2088540C>TCA394315760TSC2c.*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)
16g.2088541A=CA2202034121TSC2c.*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=)
16g.2088541A>CCA493043726TSC2c.*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=)
16g.2088541A>GCA16608080TSC2c.*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
16g.2088541A>TCA493043727TSC2c.*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=)
16g.2088542C>ACA394315765TSC2c.*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
16g.2088542C=CA2202034128TSC2c.*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=)
16g.2088542C>GCA394315767TSC2c.*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)
16g.2088542C>TCA055190TSC2c.*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
16g.2088543C>ACA394315772TSC2c.*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)
16g.2088543C=CA2202034140TSC2c.*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=)
16g.2088543C>GCA055199TSC2c.*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
16g.2088543C>TCA394315777TSC2c.*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
16g.2088544delCA2573054169TSC2c.*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
16g.2088544T>ACA493043731TSC2c.*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=)
16g.2088544T>CCA493043732TSC2c.*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
16g.2088544T>GCA493043733TSC2c.*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
16g.2088544T=CA2202034148TSC2c.*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=)
16g.2088545G>ACA022408TSC2c.*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
16g.2088545G>CCA394315814TSC2c.*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
16g.2088545G=CA2202034158TSC2c.*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=)
16g.2088545G>TCA394315815TSC2c.*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)
16g.2088546G>ACA394315816TSC2c.*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
16g.2088546G>CCA394315818TSC2c.*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)
16g.2088546G>TCA394315817TSC2c.*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)
16g.2088547C>ACA493043737TSC2c.*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
16g.2088547C=CA2202034166TSC2c.*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=)
16g.2088547C>GCA493043738TSC2c.*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
16g.2088547C>TCA493043739TSC2c.*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
16g.2088547_2088563dupCA2524666126TSC2c.*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?)
16g.2088548T>ACA394315821TSC2c.*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)
16g.2088548T>CCA16615053TSC2c.*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
16g.2088548T>GCA276760060TSC2c.*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
16g.2088548T=CA2202034178TSC2c.*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=)
16g.2088549A=CA2202034184TSC2c.*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=)
16g.2088549A>CCA394315826TSC2c.*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
16g.2088549A>GCA055219TSC2c.*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
16g.2088549A>TCA022414TSC2c.*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
16g.2088550T>ACA394315845TSC2c.*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
16g.2088550T>CCA055226TSC2c.*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
16g.2088550T>GCA394315850TSC2c.*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
16g.2088550T=CA2202034201TSC2c.*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=)
16g.2088551G>ACA394315853TSC2c.*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
16g.2088551G>CCA022419TSC2c.*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
16g.2088551G=CA2202034207TSC2c.*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=)
16g.2088551G>TCA394315865TSC2c.*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)
16g.2088552_2088554delCA2573151991TSC2c.*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
16g.2088552A>CCA394315877TSC2c.*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)
16g.2088552A>GCA394315867TSC2c.*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)
16g.2088552A>TCA394315869TSC2c.*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)
16g.2088553G>ACA276760093TSC2c.*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
16g.2088553G>CCA394315884TSC2c.*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
16g.2088553G=CA2202034213TSC2c.*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=)
16g.2088553G>TCA394315894TSC2c.*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)
16g.2088554G>ACA022424TSC2c.*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
16g.2088554G>CCA394315911TSC2c.*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
16g.2088554G=CA2202034228TSC2c.*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=)
16g.2088554G>TCA394315912TSC2c.*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)
16g.2088555T>ACA394315914TSC2c.*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
16g.2088555T>CCA394315915TSC2c.*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)
16g.2088555T>GCA394315923TSC2c.*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
16g.2088555T=CA2202034243TSC2c.*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=)
16g.2088556G>ACA493043750TSC2c.*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
16g.2088556G>CCA055250TSC2c.*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
16g.2088556G=CA2202034250TSC2c.*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=)
16g.2088556G>TCA493043751TSC2c.*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
16g.2088557_2088568delCA2825002356TSC2c.*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
16g.2088557G>ACA022427TSC2c.*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
16g.2088557G>CCA394315941TSC2c.*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)
16g.2088557G=CA2202034254TSC2c.*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=)
16g.2088557G>TCA394315942TSC2c.*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)
16g.2088558G>ACA394315944TSC2c.*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
16g.2088558G>CCA394315946TSC2c.*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
16g.2088558G=CA2202034263TSC2c.*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=)
16g.2088558G>TCA394315943TSC2c.*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)
16g.2088559C>ACA493043760TSC2c.*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
16g.2088559C=CA2202034269TSC2c.*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=)
16g.2088559C>GCA493043762TSC2c.*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
16g.2088559C>TCA493043763TSC2c.*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
16g.2088560C>ACA16615208TSC2c.*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
16g.2088560C=CA2202034274TSC2c.*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=)
16g.2088560C>GCA394315950TSC2c.*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)
16g.2088560C>TCA394315949TSC2c.*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
16g.2088561A>CCA394315951TSC2c.*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
16g.2088561A>GCA394315953TSC2c.*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
16g.2088561A>TCA394315956TSC2c.*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)
16g.2088562G>ACA493043769TSC2c.*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
16g.2088562G>CCA022432TSC2c.*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
16g.2088562G=CA2202034277TSC2c.*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=)
16g.2088562G>TCA394315963TSC2c.*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
16g.2088563C>ACA493043774TSC2c.*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
16g.2088563C=CA2202034285TSC2c.*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=)
16g.2088563C>GCA394315966TSC2c.*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
16g.2088563C>TCA394315971TSC2c.*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
16g.2088563dupCA2573151992TSC2c.*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
16g.2088563_2088564insTCA2499223358TSC2c.*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
16g.2088564G>ACA022436TSC2c.*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
16g.2088564G>CCA394315973TSC2c.*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
16g.2088564G=CA2202034297TSC2c.*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=)
16g.2088564G>TCA394315974TSC2c.*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)
16g.2088565G>ACA055256TSC2c.*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
16g.2088565G>CCA493043777TSC2c.*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
16g.2088565G=CA2202034308TSC2c.*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=)
16g.2088565G>TCA493043776TSC2c.*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
16g.2088566_2088568dupCA022443TSC2c.*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
16g.2088566A>CCA394315983TSC2c.*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
16g.2088566A>GCA394315985TSC2c.*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)
16g.2088566A>TCA394315989TSC2c.*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)
16g.2088567A=CA2202034316TSC2c.*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=)
16g.2088567A>CCA394315998TSC2c.*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
16g.2088567A>GCA055265TSC2c.*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
16g.2088567A>TCA394315996TSC2c.*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
16g.2088568G>ACA493043782TSC2c.*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
16g.2088568G>CCA394316001TSC2c.*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)
16g.2088568G=CA2202034323TSC2c.*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=)
16g.2088568G>TCA394316003TSC2c.*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)
16g.2088569C>ACA394316006TSC2c.*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
16g.2088569C=CA2202034339TSC2c.*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=)
16g.2088569C>GCA394316016TSC2c.*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
16g.2088569C>TCA022447TSC2c.*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
16g.2088570G>ACA055272TSC2c.*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
16g.2088570G>CCA394316027TSC2c.*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
16g.2088570G=CA2202034346TSC2c.*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=)
16g.2088570G>TCA022452TSC2c.*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
16g.2088571C>ACA493043784TSC2c.*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
16g.2088571C>GCA493043788TSC2c.*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=)
16g.2088571C>TCA493043785TSC2c.*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
16g.2088572_2088574delCA2631119858TSC2c.*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
16g.2088572C>ACA022457TSC2c.*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
16g.2088572C=CA2202034354TSC2c.*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=)
16g.2088572C>GCA394316034TSC2c.*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
16g.2088572C>TCA394316035TSC2c.*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
16g.2088573_2088574insTCATCTCCTCGGTGGAGGACTCA2825002357TSC2c.*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
16g.2088573T>ACA394316040TSC2c.*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)
16g.2088573T>CCA394316041TSC2c.*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)
16g.2088573T>GCA394316042TSC2c.*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
16g.2088573T=CA2202034359TSC2c.*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=)
16g.2088575_2088577dupCA2580091208TSC2c.*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
16g.2088574C>ACA493043797TSC2c.*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=)
16g.2088574C=CA2202034366TSC2c.*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=)
16g.2088574C>GCA493043796TSC2c.*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
16g.2088574C>TCA493043795TSC2c.*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
16g.2088574dupCA022461TSC2c.*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
16g.2088575A=CA2202034375TSC2c.*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=)
16g.2088575A>CCA319402TSC2c.*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
16g.2088575A>GCA394316067TSC2c.*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
16g.2088575A>TCA394316052TSC2c.*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)
16g.2088575_2088578dupCA645294082TSC2c.*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
16g.2088576T>ACA394316071TSC2c.*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)
16g.2088576T>CCA394316073TSC2c.*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
16g.2088576T>GCA394316074TSC2c.*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
16g.2088576_2088579delinsTCTCCA2202034387TSC2c.*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=)
16g.2088577C>ACA493043804TSC2c.*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
16g.2088577C=CA2202034402TSC2c.*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=)
16g.2088577C>GCA055292TSC2c.*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
16g.2088577C>TCA493043808TSC2c.*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
16g.2088580_2088582delCA055284TSC2c.*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
16g.2088578T>ACA394316084TSC2c.*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
16g.2088578T>CCA394316091TSC2c.*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)
16g.2088578T>GCA394316096TSC2c.*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
16g.2088578T=CA2202034410TSC2c.*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=)
16g.2088578_2088667delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAACA2202034407TSC2c.*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=])
16g.2088579C>ACA394316103TSC2c.*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
16g.2088579C=CA2202034425TSC2c.*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=)
16g.2088579C>GCA394316106TSC2c.*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)
16g.2088579C>TCA394316110TSC2c.*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
16g.2088579_2088667delCA891844206TSC2c.*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
16g.2088580C>ACA493043816TSC2c.*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=)
16g.2088580C>GCA493043817TSC2c.*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
16g.2088580C>TCA493043819TSC2c.*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
16g.2088581T>ACA394316117TSC2c.*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)
16g.2088581T>CCA394316115TSC2c.*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
16g.2088581T>GCA394316116TSC2c.*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
16g.2088581T=CA2202034430TSC2c.*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=)
16g.2088581_2088583delCA2499223359TSC2c.*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
16g.2088582C>ACA394316118TSC2c.*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
16g.2088582C=CA2202034436TSC2c.*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=)
16g.2088582C>GCA394316119TSC2c.*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
16g.2088582C>TCA055299TSC2c.*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
16g.2088583G>ACA022471TSC2c.*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
16g.2088583G>CCA022476TSC2c.*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
16g.2088583G=CA2202034449TSC2c.*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=)
16g.2088583G>TCA493043829TSC2c.*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
16g.2088583_2088584delinsCACA916081768TSC2c.*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
16g.2088583_2088584delinsGGCA2202034454TSC2c.*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=)
16g.2088585_2088587delCA2697549446TSC2c.*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
16g.2088584G>ACA394316137TSC2c.*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
16g.2088584G>CCA394316140TSC2c.*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)
16g.2088584G>TCA394316142TSC2c.*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)
16g.2088585T>ACA394316146TSC2c.*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)
16g.2088585T>CCA394316150TSC2c.*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
16g.2088585T>GCA394316152TSC2c.*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)
16g.2088585T=CA2202034464TSC2c.*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=)
16g.2088586G>ACA493043837TSC2c.*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
16g.2088586G>CCA055318TSC2c.*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
16g.2088586G=CA2202034471TSC2c.*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=)
16g.2088586G>TCA493043836TSC2c.*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
16g.2088587delCA2805573973TSC2c.*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)
16g.2088586_2088588delinsGGACA2202034469TSC2c.*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=)
16g.2088589_2088591delCA2580612730TSC2c.*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
16g.2088587G>ACA394316159TSC2c.*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
16g.2088587G>CCA394316167TSC2c.*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)
16g.2088587G=CA2202034480TSC2c.*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=)
16g.2088587G>TCA394316164TSC2c.*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
16g.2088587_2088588delinsTTCA2580091209TSC2c.*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
16g.2088588_2088589delCA022480TSC2c.*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
16g.2088588A>CCA394316170TSC2c.*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)
16g.2088588A>GCA394316174TSC2c.*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
16g.2088588A>TCA394316176TSC2c.*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)
16g.2088589G>ACA493043841TSC2c.*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
16g.2088589G>CCA394316180TSC2c.*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)
16g.2088589G=CA2202034492TSC2c.*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=)
16g.2088589G>TCA16615209TSC2c.*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
16g.2088590G>ACA394316182TSC2c.*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
16g.2088590G>CCA394316184TSC2c.*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)
16g.2088590G=CA2202034501TSC2c.*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=)
16g.2088590G>TCA394316187TSC2c.*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
16g.2088591A=CA2202034510TSC2c.*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=)
16g.2088591A>CCA394316190TSC2c.*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
16g.2088591A>GCA394316193TSC2c.*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)
16g.2088591A>TCA394316195TSC2c.*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
16g.2088592C>ACA394316199TSC2c.*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)
16g.2088592C=CA2202034513TSC2c.*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=)
16g.2088592C>GCA394316201TSC2c.*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
16g.2088592C>TCA055328TSC2c.*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
16g.2088593T>ACA394316209TSC2c.*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)
16g.2088593T>CCA394316205TSC2c.*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
16g.2088593T>GCA394316207TSC2c.*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)
16g.2088594dupCA022490TSC2c.*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
16g.2088594T>ACA394316213TSC2c.*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)
16g.2088594T>CCA394316216TSC2c.*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
16g.2088594T>GCA394316218TSC2c.*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)
16g.2088594_2088595insGCA2580091210TSC2c.*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
16g.2088595C>ACA394316221TSC2c.*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)
16g.2088595C=CA2202034530TSC2c.*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=)
16g.2088595C>GCA394316224TSC2c.*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)
16g.2088595C>TCA055336TSC2c.*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
16g.2088596A=CA2202034537TSC2c.*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=)
16g.2088596A>CCA276760163TSC2c.*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
16g.2088596A>GCA394316232TSC2c.*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
16g.2088596A>TCA394316234TSC2c.*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)
16g.2088597C>ACA394316237TSC2c.*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)
16g.2088597C>GCA394316239TSC2c.*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
16g.2088597C>TCA394316246TSC2c.*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
16g.2088598C>ACA055340TSC2c.*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
16g.2088598C=CA2202034544TSC2c.*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=)
16g.2088598C>GCA493043859TSC2c.*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
16g.2088598C>TCA022495TSC2c.*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
16g.2088599G>ACA055360TSC2c.*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
16g.2088599G>CCA394316254TSC2c.*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
16g.2088599G=CA2202034552TSC2c.*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=)
16g.2088599G>TCA394316257TSC2c.*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
16g.2088600A=CA2202034563TSC2c.*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=)
16g.2088600A>CCA394316261TSC2c.*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)
16g.2088600A>GCA394316262TSC2c.*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
16g.2088600A>TCA394316264TSC2c.*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)
16g.2088600dupCA022500TSC2c.*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
16g.2088600_2088603dupCA2695221416TSC2c.*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?)
16g.2088601G>ACA276760191TSC2c.*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
16g.2088601G>CCA394316267TSC2c.*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
16g.2088601G=CA2202034574TSC2c.*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=)
16g.2088601G>TCA394316269TSC2c.*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
16g.2088602T>ACA394316276TSC2c.*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)
16g.2088602T>CCA16615055TSC2c.*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
16g.2088602T>GCA394316278TSC2c.*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)
16g.2088602T=CA2202034580TSC2c.*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=)
16g.2088603_2088604delCA2740096844TSC2c.*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
16g.2088603T>ACA394316282TSC2c.*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)
16g.2088603T>CCA394316285TSC2c.*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)
16g.2088603T>GCA394316287TSC2c.*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
16g.2088603_2088607delinsTTGTGCA2202034582TSC2c.*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=)
16g.2088604T>ACA394316293TSC2c.*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)
16g.2088604T>CCA493043867TSC2c.*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=)
16g.2088604T>GCA022504TSC2c.*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
16g.2088604T=CA2202034597TSC2c.*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=)
16g.2088608_2088609delCA022520TSC2c.*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
16g.2088606_2088609delCA022512TSC2c.*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
16g.2088604_2088605insTGCA2825002360TSC2c.*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
16g.2088605G>ACA394316316TSC2c.*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
16g.2088605G>CCA394316312TSC2c.*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
16g.2088605G=CA2202034604TSC2c.*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=)
16g.2088605G>TCA022509TSC2c.*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
16g.2088606T>ACA394316319TSC2c.*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)
16g.2088606T>CCA394316321TSC2c.*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
16g.2088606T>GCA394316323TSC2c.*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)
16g.2088607G>ACA493043873TSC2c.*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
16g.2088607G>CCA493043875TSC2c.*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=)
16g.2088607G=CA2202034615TSC2c.*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=)
16g.2088607G>TCA493043878TSC2c.*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
16g.2088607_2088613dupCA2631120171TSC2c.*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
16g.2088608T>ACA394316328TSC2c.*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
16g.2088608T>CCA394316330TSC2c.*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
16g.2088608T>GCA394316333TSC2c.*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)
16g.2088608T=CA2202034631TSC2c.*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=)
16g.2088609G>ACA055372TSC2c.*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
16g.2088609G>CCA394316339TSC2c.*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)
16g.2088609G=CA2202034640TSC2c.*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=)
16g.2088609G>TCA394316336TSC2c.*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
16g.2088610A>CCA394316342TSC2c.*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)
16g.2088610A>GCA394316346TSC2c.*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
16g.2088610A>TCA394316345TSC2c.*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)
16g.2088611G>ACA035509TSC2c.*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
16g.2088611G>CCA035540TSC2c.*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
16g.2088611G=CA2202034643TSC2c.*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=
16g.2088612G>ACA620705137TSC2c.*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
16g.2088612G=CA2202034651TSC2c.*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=
16g.2088612G>TCA043732TSC2c.*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
16g.2088612_2088613insTCA656220803TSC2c.*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
16g.2088613C=CA2202034658TSC2c.*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=
16g.2088613C>TCA049920TSC2c.*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
16g.2088615_2088621delCA2631120240TSC2c.*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
16g.2088614C>ACA2631120248TSC2c.*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
16g.2088614C=CA2202034673TSC2c.*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=
16g.2088614C>GCA620705138TSC2c.*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
16g.2088614C>TCA053458TSC2c.*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
16g.2088615G>ACA022652TSC2c.*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
16g.2088615G>CCA2631120272TSC2c.*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
16g.2088615G=CA2202034677TSC2c.*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=
16g.2088615G>TCA620705139TSC2c.*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
16g.2088618delCA2631120256TSC2c.*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
16g.2088616G>ACA022808TSC2c.*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
16g.2088616G>CCA718906077TSC2c.*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
16g.2088616G=CA2202034684TSC2c.*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=
16g.2088616G>TCA2631120276TSC2c.*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
16g.2088617G>ACA7828404TSC2c.*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
16g.2088617G=CA2202034697TSC2c.*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=
16g.2088617G>TCA2631120280TSC2c.*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
16g.2088617_2088629delinsGGCCCTCCCTCCTCA2202034691TSC2c.*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
16g.2088618G>ACA620705140TSC2c.*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
16g.2088618G>CCA276760223TSC2c.*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
16g.2088618G=CA2202034704TSC2c.*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=
16g.2088618G>TCA276760208TSC2c.*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
16g.2088620_2088631delCA7828403TSC2c.*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
16g.2088619C>ACA620705141TSC2c.*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
16g.2088619C=CA2202034711TSC2c.*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=
16g.2088619C>TCA276760232TSC2c.*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
16g.2088620C=CA2202034713TSC2c.*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=
16g.2088620C>GCA028166TSC2c.*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
16g.2088620C>TCA276760238TSC2c.*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
16g.2088621C>ACA2631120333TSC2c.*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
16g.2088621C=CA2202034715TSC2c.*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=
16g.2088621C>GCA028743TSC2c.*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
16g.2088621C>TCA620705142TSC2c.*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
16g.2088622T>GCA029215TSC2c.*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
16g.2088622T=CA2202034718TSC2c.*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=
16g.2088623C>ACA620705143TSC2c.*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
16g.2088623C=CA2202034723TSC2c.*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=
16g.2088623C>GCA030164TSC2c.*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
16g.2088623C>TCA620705144TSC2c.*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
16g.2088625delCA2631120339TSC2c.*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

Number of alleles fetched