Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.2088232_2088247delCA2695221751TSC2c.*3515_*3530del (n.*3515_*3530del)
c.5013_5028del (p.Ser1672AlafsTer?)
c.5163_5178del (p.Ser1722AlafsTer?)
c.*5679_*5694del (n.*5679_*5694del)
c.*7915_*7930del (n.*7915_*7930del)
c.5166_5181del (p.Ser1723AlafsTer?)
c.5097_5112del (p.Ser1700AlafsTer?)
c.4965_4980del (p.Ser1656AlafsTer?)
c.4998_5013del (p.Ser1667AlafsTer?)
c.1389_1404del
n.3048_3063del
c.3820_3835del
c.5032-7_5040del
n.763_778del
c.4968_4983del (p.Ser1657AlafsTer?)
c.5034_5049del (p.Ser1679AlafsTer?)
c.4959_4974del (p.Ser1654AlafsTer?)
n.2814_2829del
c.5091_5106del (p.Ser1698AlafsTer?)
c.5037_5052del (p.Ser1680AlafsTer?)
c.5052_5067del (p.Ser1685AlafsTer?)
c.4962_4977del (p.Ser1655AlafsTer?)
c.5087_5102del
n.3250_3265del
c.5160_5175del (p.Ser1721AlafsTer?)
n.3981_3996del
n.2418_2433del
n.2389_2404del
n.2279_2294del
c.4821_4836del (p.Ser1608AlafsTer?)
c.*4333_*4348del (n.*4333_*4348del)
c.4857_4872del (p.Ser1620AlafsTer?)
n.2889_2904del
c.1348_1363del
n.2281_2296del
c.5220_5235del (p.Ser1741AlafsTer?)
c.5217_5232del (p.Ser1740AlafsTer?)
c.5109_5124del (p.Ser1704AlafsTer?)
c.5088_5103del (p.Ser1697AlafsTer?)
c.4434_4449del (p.Ser1479AlafsTer?)
c.5382_5397del (p.Ser1795AlafsTer?)
c.5130_5145del (p.Ser1711AlafsTer?)
c.3876_3891del (p.Ser1293AlafsTer?)
16g.2088245C>ACA394314086TSC2c.*3528C>A (n.*3528C>A)
c.5026C>A (p.His1676Asn)
c.5176C>A (p.His1726Asn)
c.*5692C>A (n.*5692C>A)
c.*7928C>A (n.*7928C>A)
c.5179C>A (p.His1727Asn)
c.5110C>A (p.His1704Asn)
c.4978C>A (p.His1660Asn)
c.5011C>A (p.His1671Asn)
c.1402C>A
n.3061C>A
c.3833C>A
c.5038C>A (p.His1680Asn)
n.776C>A
c.4981C>A (p.His1661Asn)
c.5047C>A (p.His1683Asn)
c.4972C>A (p.His1658Asn)
n.2827C>A
c.5104C>A (p.His1702Asn)
c.5050C>A (p.His1684Asn)
c.5065C>A (p.His1689Asn)
c.4975C>A (p.His1659Asn)
c.5100C>A
n.3263C>A
c.5173C>A (p.His1725Asn)
n.3994C>A
n.2431C>A
n.2402C>A
n.2292C>A
c.4834C>A (p.His1612Asn)
c.*4346C>A (n.*4346C>A)
c.4870C>A (p.His1624Asn)
n.2902C>A
c.1361C>A
n.2294C>A
c.5233C>A (p.His1745Asn)
c.5230C>A (p.His1744Asn)
c.5122C>A (p.His1708Asn)
c.5101C>A (p.His1701Asn)
c.4447C>A (p.His1483Asn)
c.5395C>A (p.His1799Asn)
c.5143C>A (p.His1715Asn)
c.3889C>A (p.His1297Asn)
16g.2088245C=CA2202031697TSC2c.*3528C= (n.*3528C=)
c.5026C= (p.His1676=)
c.5176C= (p.His1726=)
c.*5692C= (n.*5692C=)
c.*7928C= (n.*7928C=)
c.5179C= (p.His1727=)
c.5110C= (p.His1704=)
c.4978C= (p.His1660=)
c.5011C= (p.His1671=)
c.1402C=
n.3061C=
c.3833C=
c.5038C= (p.His1680=)
n.776C=
c.4981C= (p.His1661=)
c.5047C= (p.His1683=)
c.4972C= (p.His1658=)
n.2827C=
c.5104C= (p.His1702=)
c.5050C= (p.His1684=)
c.5065C= (p.His1689=)
c.4975C= (p.His1659=)
c.5100C=
n.3263C=
c.5173C= (p.His1725=)
n.3994C=
n.2431C=
n.2402C=
n.2292C=
c.4834C= (p.His1612=)
c.*4346C= (n.*4346C=)
c.4870C= (p.His1624=)
n.2902C=
c.1361C=
n.2294C=
c.5233C= (p.His1745=)
c.5230C= (p.His1744=)
c.5122C= (p.His1708=)
c.5101C= (p.His1701=)
c.4447C= (p.His1483=)
c.5395C= (p.His1799=)
c.5143C= (p.His1715=)
c.3889C= (p.His1297=)
16g.2088245C>GCA394314084TSC2c.*3528C>G (n.*3528C>G)
c.5026C>G (p.His1676Asp)
c.5176C>G (p.His1726Asp)
c.*5692C>G (n.*5692C>G)
c.*7928C>G (n.*7928C>G)
c.5179C>G (p.His1727Asp)
c.5110C>G (p.His1704Asp)
c.4978C>G (p.His1660Asp)
c.5011C>G (p.His1671Asp)
c.1402C>G
n.3061C>G
c.3833C>G
c.5038C>G (p.His1680Asp)
n.776C>G
c.4981C>G (p.His1661Asp)
c.5047C>G (p.His1683Asp)
c.4972C>G (p.His1658Asp)
n.2827C>G
c.5104C>G (p.His1702Asp)
c.5050C>G (p.His1684Asp)
c.5065C>G (p.His1689Asp)
c.4975C>G (p.His1659Asp)
c.5100C>G
n.3263C>G
c.5173C>G (p.His1725Asp)
n.3994C>G
n.2431C>G
n.2402C>G
n.2292C>G
c.4834C>G (p.His1612Asp)
c.*4346C>G (n.*4346C>G)
c.4870C>G (p.His1624Asp)
n.2902C>G
c.1361C>G
n.2294C>G
c.5233C>G (p.His1745Asp)
c.5230C>G (p.His1744Asp)
c.5122C>G (p.His1708Asp)
c.5101C>G (p.His1701Asp)
c.4447C>G (p.His1483Asp)
c.5395C>G (p.His1799Asp)
c.5143C>G (p.His1715Asp)
c.3889C>G (p.His1297Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2088245C>TCA394314081TSC2c.*3528C>T (n.*3528C>T)
c.5026C>T (p.His1676Tyr)
c.5176C>T (p.His1726Tyr)
c.*5692C>T (n.*5692C>T)
c.*7928C>T (n.*7928C>T)
c.5179C>T (p.His1727Tyr)
c.5110C>T (p.His1704Tyr)
c.4978C>T (p.His1660Tyr)
c.5011C>T (p.His1671Tyr)
c.1402C>T
n.3061C>T
c.3833C>T
c.5038C>T (p.His1680Tyr)
n.776C>T
c.4981C>T (p.His1661Tyr)
c.5047C>T (p.His1683Tyr)
c.4972C>T (p.His1658Tyr)
n.2827C>T
c.5104C>T (p.His1702Tyr)
c.5050C>T (p.His1684Tyr)
c.5065C>T (p.His1689Tyr)
c.4975C>T (p.His1659Tyr)
c.5100C>T
n.3263C>T
c.5173C>T (p.His1725Tyr)
n.3994C>T
n.2431C>T
n.2402C>T
n.2292C>T
c.4834C>T (p.His1612Tyr)
c.*4346C>T (n.*4346C>T)
c.4870C>T (p.His1624Tyr)
n.2902C>T
c.1361C>T
n.2294C>T
c.5233C>T (p.His1745Tyr)
c.5230C>T (p.His1744Tyr)
c.5122C>T (p.His1708Tyr)
c.5101C>T (p.His1701Tyr)
c.4447C>T (p.His1483Tyr)
c.5395C>T (p.His1799Tyr)
c.5143C>T (p.His1715Tyr)
c.3889C>T (p.His1297Tyr)
 dbSNP gnomAD v4
16g.2088246A=CA2202031710TSC2c.*3529A= (n.*3529A=)
c.5027A= (p.His1676=)
c.5177A= (p.His1726=)
c.*5693A= (n.*5693A=)
c.*7929A= (n.*7929A=)
c.5180A= (p.His1727=)
c.5111A= (p.His1704=)
c.4979A= (p.His1660=)
c.5012A= (p.His1671=)
c.1403A=
n.3062A=
c.3834A=
c.5039A= (p.His1680=)
n.777A=
c.4982A= (p.His1661=)
c.5048A= (p.His1683=)
c.4973A= (p.His1658=)
n.2828A=
c.5105A= (p.His1702=)
c.5051A= (p.His1684=)
c.5066A= (p.His1689=)
c.4976A= (p.His1659=)
c.5101A=
n.3264A=
c.5174A= (p.His1725=)
n.3995A=
n.2432A=
n.2403A=
n.2293A=
c.4835A= (p.His1612=)
c.*4347A= (n.*4347A=)
c.4871A= (p.His1624=)
n.2903A=
c.1362A=
n.2295A=
c.5234A= (p.His1745=)
c.5231A= (p.His1744=)
c.5123A= (p.His1708=)
c.5102A= (p.His1701=)
c.4448A= (p.His1483=)
c.5396A= (p.His1799=)
c.5144A= (p.His1715=)
c.3890A= (p.His1297=)
16g.2088246A>CCA394314092TSC2c.*3529A>C (n.*3529A>C)
c.5027A>C (p.His1676Pro)
c.5177A>C (p.His1726Pro)
c.*5693A>C (n.*5693A>C)
c.*7929A>C (n.*7929A>C)
c.5180A>C (p.His1727Pro)
c.5111A>C (p.His1704Pro)
c.4979A>C (p.His1660Pro)
c.5012A>C (p.His1671Pro)
c.1403A>C
n.3062A>C
c.3834A>C
c.5039A>C (p.His1680Pro)
n.777A>C
c.4982A>C (p.His1661Pro)
c.5048A>C (p.His1683Pro)
c.4973A>C (p.His1658Pro)
n.2828A>C
c.5105A>C (p.His1702Pro)
c.5051A>C (p.His1684Pro)
c.5066A>C (p.His1689Pro)
c.4976A>C (p.His1659Pro)
c.5101A>C
n.3264A>C
c.5174A>C (p.His1725Pro)
n.3995A>C
n.2432A>C
n.2403A>C
n.2293A>C
c.4835A>C (p.His1612Pro)
c.*4347A>C (n.*4347A>C)
c.4871A>C (p.His1624Pro)
n.2903A>C
c.1362A>C
n.2295A>C
c.5234A>C (p.His1745Pro)
c.5231A>C (p.His1744Pro)
c.5123A>C (p.His1708Pro)
c.5102A>C (p.His1701Pro)
c.4448A>C (p.His1483Pro)
c.5396A>C (p.His1799Pro)
c.5144A>C (p.His1715Pro)
c.3890A>C (p.His1297Pro)
 dbSNP
16g.2088246A>GCA394314093TSC2c.*3529A>G (n.*3529A>G)
c.5027A>G (p.His1676Arg)
c.5177A>G (p.His1726Arg)
c.*5693A>G (n.*5693A>G)
c.*7929A>G (n.*7929A>G)
c.5180A>G (p.His1727Arg)
c.5111A>G (p.His1704Arg)
c.4979A>G (p.His1660Arg)
c.5012A>G (p.His1671Arg)
c.1403A>G
n.3062A>G
c.3834A>G
c.5039A>G (p.His1680Arg)
n.777A>G
c.4982A>G (p.His1661Arg)
c.5048A>G (p.His1683Arg)
c.4973A>G (p.His1658Arg)
n.2828A>G
c.5105A>G (p.His1702Arg)
c.5051A>G (p.His1684Arg)
c.5066A>G (p.His1689Arg)
c.4976A>G (p.His1659Arg)
c.5101A>G
n.3264A>G
c.5174A>G (p.His1725Arg)
n.3995A>G
n.2432A>G
n.2403A>G
n.2293A>G
c.4835A>G (p.His1612Arg)
c.*4347A>G (n.*4347A>G)
c.4871A>G (p.His1624Arg)
n.2903A>G
c.1362A>G
n.2295A>G
c.5234A>G (p.His1745Arg)
c.5231A>G (p.His1744Arg)
c.5123A>G (p.His1708Arg)
c.5102A>G (p.His1701Arg)
c.4448A>G (p.His1483Arg)
c.5396A>G (p.His1799Arg)
c.5144A>G (p.His1715Arg)
c.3890A>G (p.His1297Arg)
 ClinVar dbSNP gnomAD v4
16g.2088246A>TCA394314094TSC2c.*3529A>T (n.*3529A>T)
c.5027A>T (p.His1676Leu)
c.5177A>T (p.His1726Leu)
c.*5693A>T (n.*5693A>T)
c.*7929A>T (n.*7929A>T)
c.5180A>T (p.His1727Leu)
c.5111A>T (p.His1704Leu)
c.4979A>T (p.His1660Leu)
c.5012A>T (p.His1671Leu)
c.1403A>T
n.3062A>T
c.3834A>T
c.5039A>T (p.His1680Leu)
n.777A>T
c.4982A>T (p.His1661Leu)
c.5048A>T (p.His1683Leu)
c.4973A>T (p.His1658Leu)
n.2828A>T
c.5105A>T (p.His1702Leu)
c.5051A>T (p.His1684Leu)
c.5066A>T (p.His1689Leu)
c.4976A>T (p.His1659Leu)
c.5101A>T
n.3264A>T
c.5174A>T (p.His1725Leu)
n.3995A>T
n.2432A>T
n.2403A>T
n.2293A>T
c.4835A>T (p.His1612Leu)
c.*4347A>T (n.*4347A>T)
c.4871A>T (p.His1624Leu)
n.2903A>T
c.1362A>T
n.2295A>T
c.5234A>T (p.His1745Leu)
c.5231A>T (p.His1744Leu)
c.5123A>T (p.His1708Leu)
c.5102A>T (p.His1701Leu)
c.4448A>T (p.His1483Leu)
c.5396A>T (p.His1799Leu)
c.5144A>T (p.His1715Leu)
c.3890A>T (p.His1297Leu)
 ClinVar dbSNP
16g.2088247_2088248delCA2695221753TSC2c.*3530_*3531del (n.*3530_*3531del)
c.5028_5029del (p.His1676GlnfsTer?)
c.5178_5179del (p.His1726GlnfsTer?)
c.*5694_*5695del (n.*5694_*5695del)
c.*7930_*7931del (n.*7930_*7931del)
c.5181_5182del (p.His1727GlnfsTer?)
c.5112_5113del (p.His1704GlnfsTer?)
c.4980_4981del (p.His1660GlnfsTer?)
c.5013_5014del (p.His1671GlnfsTer?)
c.1404_1405del
n.3063_3064del
c.3835_3836del
c.5040_5041del (p.His1680GlnfsTer?)
n.778_779del
c.4983_4984del (p.His1661GlnfsTer?)
c.5049_5050del (p.His1683GlnfsTer?)
c.4974_4975del (p.His1658GlnfsTer?)
n.2829_2830del
c.5106_5107del (p.His1702GlnfsTer?)
c.5052_5053del (p.His1684GlnfsTer?)
c.5067_5068del (p.His1689GlnfsTer?)
c.4977_4978del (p.His1659GlnfsTer?)
c.5102_5103del
n.3265_3266del
c.5175_5176del (p.His1725GlnfsTer?)
n.3996_3997del
n.2433_2434del
n.2404_2405del
n.2294_2295del
c.4836_4837del (p.His1612GlnfsTer?)
c.*4348_*4349del (n.*4348_*4349del)
c.4872_4873del (p.His1624GlnfsTer?)
n.2904_2905del
c.1363_1364del
n.2296_2297del
c.5235_5236del (p.His1745GlnfsTer?)
c.5232_5233del (p.His1744GlnfsTer?)
c.5124_5125del (p.His1708GlnfsTer?)
c.5103_5104del (p.His1701GlnfsTer?)
c.4449_4450del (p.His1483GlnfsTer?)
c.5397_5398del (p.His1799GlnfsTer?)
c.5145_5146del (p.His1715GlnfsTer?)
c.3891_3892del (p.His1297GlnfsTer?)
16g.2088247T>ACA394314096TSC2c.*3530T>A (n.*3530T>A)
c.5028T>A (p.His1676Gln)
c.5178T>A (p.His1726Gln)
c.*5694T>A (n.*5694T>A)
c.*7930T>A (n.*7930T>A)
c.5181T>A (p.His1727Gln)
c.5112T>A (p.His1704Gln)
c.4980T>A (p.His1660Gln)
c.5013T>A (p.His1671Gln)
c.1404T>A
n.3063T>A
c.3835T>A
c.5040T>A (p.His1680Gln)
n.778T>A
c.4983T>A (p.His1661Gln)
c.5049T>A (p.His1683Gln)
c.4974T>A (p.His1658Gln)
n.2829T>A
c.5106T>A (p.His1702Gln)
c.5052T>A (p.His1684Gln)
c.5067T>A (p.His1689Gln)
c.4977T>A (p.His1659Gln)
c.5102T>A
n.3265T>A
c.5175T>A (p.His1725Gln)
n.3996T>A
n.2433T>A
n.2404T>A
n.2294T>A
c.4836T>A (p.His1612Gln)
c.*4348T>A (n.*4348T>A)
c.4872T>A (p.His1624Gln)
n.2904T>A
c.1363T>A
n.2296T>A
c.5235T>A (p.His1745Gln)
c.5232T>A (p.His1744Gln)
c.5124T>A (p.His1708Gln)
c.5103T>A (p.His1701Gln)
c.4449T>A (p.His1483Gln)
c.5397T>A (p.His1799Gln)
c.5145T>A (p.His1715Gln)
c.3891T>A (p.His1297Gln)
 dbSNP
16g.2088247T>CCA054336TSC2c.*3530T>C (n.*3530T>C)
c.5028T>C (p.His1676=)
c.5178T>C (p.His1726=)
c.*5694T>C (n.*5694T>C)
c.*7930T>C (n.*7930T>C)
c.5181T>C (p.His1727=)
c.5112T>C (p.His1704=)
c.4980T>C (p.His1660=)
c.5013T>C (p.His1671=)
c.1404T>C
n.3063T>C
c.3835T>C
c.5040T>C (p.His1680=)
n.778T>C
c.4983T>C (p.His1661=)
c.5049T>C (p.His1683=)
c.4974T>C (p.His1658=)
n.2829T>C
c.5106T>C (p.His1702=)
c.5052T>C (p.His1684=)
c.5067T>C (p.His1689=)
c.4977T>C (p.His1659=)
c.5102T>C
n.3265T>C
c.5175T>C (p.His1725=)
n.3996T>C
n.2433T>C
n.2404T>C
n.2294T>C
c.4836T>C (p.His1612=)
c.*4348T>C (n.*4348T>C)
c.4872T>C (p.His1624=)
n.2904T>C
c.1363T>C
n.2296T>C
c.5235T>C (p.His1745=)
c.5232T>C (p.His1744=)
c.5124T>C (p.His1708=)
c.5103T>C (p.His1701=)
c.4449T>C (p.His1483=)
c.5397T>C (p.His1799=)
c.5145T>C (p.His1715=)
c.3891T>C (p.His1297=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2088247T>GCA394314099TSC2c.*3530T>G (n.*3530T>G)
c.5028T>G (p.His1676Gln)
c.5178T>G (p.His1726Gln)
c.*5694T>G (n.*5694T>G)
c.*7930T>G (n.*7930T>G)
c.5181T>G (p.His1727Gln)
c.5112T>G (p.His1704Gln)
c.4980T>G (p.His1660Gln)
c.5013T>G (p.His1671Gln)
c.1404T>G
n.3063T>G
c.3835T>G
c.5040T>G (p.His1680Gln)
n.778T>G
c.4983T>G (p.His1661Gln)
c.5049T>G (p.His1683Gln)
c.4974T>G (p.His1658Gln)
n.2829T>G
c.5106T>G (p.His1702Gln)
c.5052T>G (p.His1684Gln)
c.5067T>G (p.His1689Gln)
c.4977T>G (p.His1659Gln)
c.5102T>G
n.3265T>G
c.5175T>G (p.His1725Gln)
n.3996T>G
n.2433T>G
n.2404T>G
n.2294T>G
c.4836T>G (p.His1612Gln)
c.*4348T>G (n.*4348T>G)
c.4872T>G (p.His1624Gln)
n.2904T>G
c.1363T>G
n.2296T>G
c.5235T>G (p.His1745Gln)
c.5232T>G (p.His1744Gln)
c.5124T>G (p.His1708Gln)
c.5103T>G (p.His1701Gln)
c.4449T>G (p.His1483Gln)
c.5397T>G (p.His1799Gln)
c.5145T>G (p.His1715Gln)
c.3891T>G (p.His1297Gln)
 dbSNP
16g.2088247T=CA2202031712TSC2c.*3530T= (n.*3530T=)
c.5028T= (p.His1676=)
c.5178T= (p.His1726=)
c.*5694T= (n.*5694T=)
c.*7930T= (n.*7930T=)
c.5181T= (p.His1727=)
c.5112T= (p.His1704=)
c.4980T= (p.His1660=)
c.5013T= (p.His1671=)
c.1404T=
n.3063T=
c.3835T=
c.5040T= (p.His1680=)
n.778T=
c.4983T= (p.His1661=)
c.5049T= (p.His1683=)
c.4974T= (p.His1658=)
n.2829T=
c.5106T= (p.His1702=)
c.5052T= (p.His1684=)
c.5067T= (p.His1689=)
c.4977T= (p.His1659=)
c.5102T=
n.3265T=
c.5175T= (p.His1725=)
n.3996T=
n.2433T=
n.2404T=
n.2294T=
c.4836T= (p.His1612=)
c.*4348T= (n.*4348T=)
c.4872T= (p.His1624=)
n.2904T=
c.1363T=
n.2296T=
c.5235T= (p.His1745=)
c.5232T= (p.His1744=)
c.5124T= (p.His1708=)
c.5103T= (p.His1701=)
c.4449T= (p.His1483=)
c.5397T= (p.His1799=)
c.5145T= (p.His1715=)
c.3891T= (p.His1297=)
16g.2088248A=CA2202031716TSC2c.*3531A= (n.*3531A=)
c.5029A= (p.Ser1677=)
c.5179A= (p.Ser1727=)
c.*5695A= (n.*5695A=)
c.*7931A= (n.*7931A=)
c.5182A= (p.Ser1728=)
c.5113A= (p.Ser1705=)
c.4981A= (p.Ser1661=)
c.5014A= (p.Ser1672=)
c.1405A=
n.3064A=
c.3836A=
c.5041A= (p.Ser1681=)
n.779A=
c.4984A= (p.Ser1662=)
c.5050A= (p.Ser1684=)
c.4975A= (p.Ser1659=)
n.2830A=
c.5107A= (p.Ser1703=)
c.5053A= (p.Ser1685=)
c.5068A= (p.Ser1690=)
c.4978A= (p.Ser1660=)
c.5103A=
n.3266A=
c.5176A= (p.Ser1726=)
n.3997A=
n.2434A=
n.2405A=
n.2295A=
c.4837A= (p.Ser1613=)
c.*4349A= (n.*4349A=)
c.4873A= (p.Ser1625=)
n.2905A=
c.1364A=
n.2297A=
c.5236A= (p.Ser1746=)
c.5233A= (p.Ser1745=)
c.5125A= (p.Ser1709=)
c.5104A= (p.Ser1702=)
c.4450A= (p.Ser1484=)
c.5398A= (p.Ser1800=)
c.5146A= (p.Ser1716=)
c.3892A= (p.Ser1298=)
16g.2088248A>CCA394314102TSC2c.*3531A>C (n.*3531A>C)
c.5029A>C (p.Ser1677Arg)
c.5179A>C (p.Ser1727Arg)
c.*5695A>C (n.*5695A>C)
c.*7931A>C (n.*7931A>C)
c.5182A>C (p.Ser1728Arg)
c.5113A>C (p.Ser1705Arg)
c.4981A>C (p.Ser1661Arg)
c.5014A>C (p.Ser1672Arg)
c.1405A>C
n.3064A>C
c.3836A>C
c.5041A>C (p.Ser1681Arg)
n.779A>C
c.4984A>C (p.Ser1662Arg)
c.5050A>C (p.Ser1684Arg)
c.4975A>C (p.Ser1659Arg)
n.2830A>C
c.5107A>C (p.Ser1703Arg)
c.5053A>C (p.Ser1685Arg)
c.5068A>C (p.Ser1690Arg)
c.4978A>C (p.Ser1660Arg)
c.5103A>C
n.3266A>C
c.5176A>C (p.Ser1726Arg)
n.3997A>C
n.2434A>C
n.2405A>C
n.2295A>C
c.4837A>C (p.Ser1613Arg)
c.*4349A>C (n.*4349A>C)
c.4873A>C (p.Ser1625Arg)
n.2905A>C
c.1364A>C
n.2297A>C
c.5236A>C (p.Ser1746Arg)
c.5233A>C (p.Ser1745Arg)
c.5125A>C (p.Ser1709Arg)
c.5104A>C (p.Ser1702Arg)
c.4450A>C (p.Ser1484Arg)
c.5398A>C (p.Ser1800Arg)
c.5146A>C (p.Ser1716Arg)
c.3892A>C (p.Ser1298Arg)
 dbSNP
16g.2088248A>GCA394314103TSC2c.*3531A>G (n.*3531A>G)
c.5029A>G (p.Ser1677Gly)
c.5179A>G (p.Ser1727Gly)
c.*5695A>G (n.*5695A>G)
c.*7931A>G (n.*7931A>G)
c.5182A>G (p.Ser1728Gly)
c.5113A>G (p.Ser1705Gly)
c.4981A>G (p.Ser1661Gly)
c.5014A>G (p.Ser1672Gly)
c.1405A>G
n.3064A>G
c.3836A>G
c.5041A>G (p.Ser1681Gly)
n.779A>G
c.4984A>G (p.Ser1662Gly)
c.5050A>G (p.Ser1684Gly)
c.4975A>G (p.Ser1659Gly)
n.2830A>G
c.5107A>G (p.Ser1703Gly)
c.5053A>G (p.Ser1685Gly)
c.5068A>G (p.Ser1690Gly)
c.4978A>G (p.Ser1660Gly)
c.5103A>G
n.3266A>G
c.5176A>G (p.Ser1726Gly)
n.3997A>G
n.2434A>G
n.2405A>G
n.2295A>G
c.4837A>G (p.Ser1613Gly)
c.*4349A>G (n.*4349A>G)
c.4873A>G (p.Ser1625Gly)
n.2905A>G
c.1364A>G
n.2297A>G
c.5236A>G (p.Ser1746Gly)
c.5233A>G (p.Ser1745Gly)
c.5125A>G (p.Ser1709Gly)
c.5104A>G (p.Ser1702Gly)
c.4450A>G (p.Ser1484Gly)
c.5398A>G (p.Ser1800Gly)
c.5146A>G (p.Ser1716Gly)
c.3892A>G (p.Ser1298Gly)
 dbSNP
16g.2088248A>TCA394314105TSC2c.*3531A>T (n.*3531A>T)
c.5029A>T (p.Ser1677Cys)
c.5179A>T (p.Ser1727Cys)
c.*5695A>T (n.*5695A>T)
c.*7931A>T (n.*7931A>T)
c.5182A>T (p.Ser1728Cys)
c.5113A>T (p.Ser1705Cys)
c.4981A>T (p.Ser1661Cys)
c.5014A>T (p.Ser1672Cys)
c.1405A>T
n.3064A>T
c.3836A>T
c.5041A>T (p.Ser1681Cys)
n.779A>T
c.4984A>T (p.Ser1662Cys)
c.5050A>T (p.Ser1684Cys)
c.4975A>T (p.Ser1659Cys)
n.2830A>T
c.5107A>T (p.Ser1703Cys)
c.5053A>T (p.Ser1685Cys)
c.5068A>T (p.Ser1690Cys)
c.4978A>T (p.Ser1660Cys)
c.5103A>T
n.3266A>T
c.5176A>T (p.Ser1726Cys)
n.3997A>T
n.2434A>T
n.2405A>T
n.2295A>T
c.4837A>T (p.Ser1613Cys)
c.*4349A>T (n.*4349A>T)
c.4873A>T (p.Ser1625Cys)
n.2905A>T
c.1364A>T
n.2297A>T
c.5236A>T (p.Ser1746Cys)
c.5233A>T (p.Ser1745Cys)
c.5125A>T (p.Ser1709Cys)
c.5104A>T (p.Ser1702Cys)
c.4450A>T (p.Ser1484Cys)
c.5398A>T (p.Ser1800Cys)
c.5146A>T (p.Ser1716Cys)
c.3892A>T (p.Ser1298Cys)
 dbSNP
16g.2088248_2088249insCCA620705066TSC2c.*3531_*3532insC (n.*3531_*3532insC)
c.5029_5030insC (p.Ser1677ThrfsTer?)
c.5179_5180insC (p.Ser1727ThrfsTer?)
c.*5695_*5696insC (n.*5695_*5696insC)
c.*7931_*7932insC (n.*7931_*7932insC)
c.5182_5183insC (p.Ser1728ThrfsTer?)
c.5113_5114insC (p.Ser1705ThrfsTer?)
c.4981_4982insC (p.Ser1661ThrfsTer?)
c.5014_5015insC (p.Ser1672ThrfsTer?)
c.1405_1406insC
n.3064_3065insC
c.3836_3837insC
c.5041_5042insC (p.Ser1681ThrfsTer?)
n.779_780insC
c.4984_4985insC (p.Ser1662ThrfsTer?)
c.5050_5051insC (p.Ser1684ThrfsTer?)
c.4975_4976insC (p.Ser1659ThrfsTer?)
n.2830_2831insC
c.5107_5108insC (p.Ser1703ThrfsTer?)
c.5053_5054insC (p.Ser1685ThrfsTer?)
c.5068_5069insC (p.Ser1690ThrfsTer?)
c.4978_4979insC (p.Ser1660ThrfsTer?)
c.5103_5104insC
n.3266_3267insC
c.5176_5177insC (p.Ser1726ThrfsTer?)
n.3997_3998insC
n.2434_2435insC
n.2405_2406insC
n.2295_2296insC
c.4837_4838insC (p.Ser1613ThrfsTer?)
c.*4349_*4350insC (n.*4349_*4350insC)
c.4873_4874insC (p.Ser1625ThrfsTer?)
n.2905_2906insC
c.1364_1365insC
n.2297_2298insC
c.5236_5237insC (p.Ser1746ThrfsTer?)
c.5233_5234insC (p.Ser1745ThrfsTer?)
c.5125_5126insC (p.Ser1709ThrfsTer?)
c.5104_5105insC (p.Ser1702ThrfsTer?)
c.4450_4451insC (p.Ser1484ThrfsTer?)
c.5398_5399insC (p.Ser1800ThrfsTer?)
c.5146_5147insC (p.Ser1716ThrfsTer?)
c.3892_3893insC (p.Ser1298ThrfsTer?)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2088249G>ACA394314108TSC2c.*3532G>A (n.*3532G>A)
c.5030G>A (p.Ser1677Asn)
c.5180G>A (p.Ser1727Asn)
c.*5696G>A (n.*5696G>A)
c.*7932G>A (n.*7932G>A)
c.5183G>A (p.Ser1728Asn)
c.5114G>A (p.Ser1705Asn)
c.4982G>A (p.Ser1661Asn)
c.5015G>A (p.Ser1672Asn)
c.1406G>A
n.3065G>A
c.3837G>A
c.5042G>A (p.Ser1681Asn)
n.780G>A
c.4985G>A (p.Ser1662Asn)
c.5051G>A (p.Ser1684Asn)
c.4976G>A (p.Ser1659Asn)
n.2831G>A
c.5108G>A (p.Ser1703Asn)
c.5054G>A (p.Ser1685Asn)
c.5069G>A (p.Ser1690Asn)
c.4979G>A (p.Ser1660Asn)
c.5104G>A
n.3267G>A
c.5177G>A (p.Ser1726Asn)
n.3998G>A
n.2435G>A
n.2406G>A
n.2296G>A
c.4838G>A (p.Ser1613Asn)
c.*4350G>A (n.*4350G>A)
c.4874G>A (p.Ser1625Asn)
n.2906G>A
c.1365G>A
n.2298G>A
c.5237G>A (p.Ser1746Asn)
c.5234G>A (p.Ser1745Asn)
c.5126G>A (p.Ser1709Asn)
c.5105G>A (p.Ser1702Asn)
c.4451G>A (p.Ser1484Asn)
c.5399G>A (p.Ser1800Asn)
c.5147G>A (p.Ser1716Asn)
c.3893G>A (p.Ser1298Asn)
 ClinVar dbSNP
16g.2088249G>CCA394314109TSC2c.*3532G>C (n.*3532G>C)
c.5030G>C (p.Ser1677Thr)
c.5180G>C (p.Ser1727Thr)
c.*5696G>C (n.*5696G>C)
c.*7932G>C (n.*7932G>C)
c.5183G>C (p.Ser1728Thr)
c.5114G>C (p.Ser1705Thr)
c.4982G>C (p.Ser1661Thr)
c.5015G>C (p.Ser1672Thr)
c.1406G>C
n.3065G>C
c.3837G>C
c.5042G>C (p.Ser1681Thr)
n.780G>C
c.4985G>C (p.Ser1662Thr)
c.5051G>C (p.Ser1684Thr)
c.4976G>C (p.Ser1659Thr)
n.2831G>C
c.5108G>C (p.Ser1703Thr)
c.5054G>C (p.Ser1685Thr)
c.5069G>C (p.Ser1690Thr)
c.4979G>C (p.Ser1660Thr)
c.5104G>C
n.3267G>C
c.5177G>C (p.Ser1726Thr)
n.3998G>C
n.2435G>C
n.2406G>C
n.2296G>C
c.4838G>C (p.Ser1613Thr)
c.*4350G>C (n.*4350G>C)
c.4874G>C (p.Ser1625Thr)
n.2906G>C
c.1365G>C
n.2298G>C
c.5237G>C (p.Ser1746Thr)
c.5234G>C (p.Ser1745Thr)
c.5126G>C (p.Ser1709Thr)
c.5105G>C (p.Ser1702Thr)
c.4451G>C (p.Ser1484Thr)
c.5399G>C (p.Ser1800Thr)
c.5147G>C (p.Ser1716Thr)
c.3893G>C (p.Ser1298Thr)
 dbSNP
16g.2088249G=CA2202031725TSC2c.*3532G= (n.*3532G=)
c.5030G= (p.Ser1677=)
c.5180G= (p.Ser1727=)
c.*5696G= (n.*5696G=)
c.*7932G= (n.*7932G=)
c.5183G= (p.Ser1728=)
c.5114G= (p.Ser1705=)
c.4982G= (p.Ser1661=)
c.5015G= (p.Ser1672=)
c.1406G=
n.3065G=
c.3837G=
c.5042G= (p.Ser1681=)
n.780G=
c.4985G= (p.Ser1662=)
c.5051G= (p.Ser1684=)
c.4976G= (p.Ser1659=)
n.2831G=
c.5108G= (p.Ser1703=)
c.5054G= (p.Ser1685=)
c.5069G= (p.Ser1690=)
c.4979G= (p.Ser1660=)
c.5104G=
n.3267G=
c.5177G= (p.Ser1726=)
n.3998G=
n.2435G=
n.2406G=
n.2296G=
c.4838G= (p.Ser1613=)
c.*4350G= (n.*4350G=)
c.4874G= (p.Ser1625=)
n.2906G=
c.1365G=
n.2298G=
c.5237G= (p.Ser1746=)
c.5234G= (p.Ser1745=)
c.5126G= (p.Ser1709=)
c.5105G= (p.Ser1702=)
c.4451G= (p.Ser1484=)
c.5399G= (p.Ser1800=)
c.5147G= (p.Ser1716=)
c.3893G= (p.Ser1298=)
16g.2088249G>TCA394314110TSC2c.*3532G>T (n.*3532G>T)
c.5030G>T (p.Ser1677Ile)
c.5180G>T (p.Ser1727Ile)
c.*5696G>T (n.*5696G>T)
c.*7932G>T (n.*7932G>T)
c.5183G>T (p.Ser1728Ile)
c.5114G>T (p.Ser1705Ile)
c.4982G>T (p.Ser1661Ile)
c.5015G>T (p.Ser1672Ile)
c.1406G>T
n.3065G>T
c.3837G>T
c.5042G>T (p.Ser1681Ile)
n.780G>T
c.4985G>T (p.Ser1662Ile)
c.5051G>T (p.Ser1684Ile)
c.4976G>T (p.Ser1659Ile)
n.2831G>T
c.5108G>T (p.Ser1703Ile)
c.5054G>T (p.Ser1685Ile)
c.5069G>T (p.Ser1690Ile)
c.4979G>T (p.Ser1660Ile)
c.5104G>T
n.3267G>T
c.5177G>T (p.Ser1726Ile)
n.3998G>T
n.2435G>T
n.2406G>T
n.2296G>T
c.4838G>T (p.Ser1613Ile)
c.*4350G>T (n.*4350G>T)
c.4874G>T (p.Ser1625Ile)
n.2906G>T
c.1365G>T
n.2298G>T
c.5237G>T (p.Ser1746Ile)
c.5234G>T (p.Ser1745Ile)
c.5126G>T (p.Ser1709Ile)
c.5105G>T (p.Ser1702Ile)
c.4451G>T (p.Ser1484Ile)
c.5399G>T (p.Ser1800Ile)
c.5147G>T (p.Ser1716Ile)
c.3893G>T (p.Ser1298Ile)
 ClinVar dbSNP gnomAD v4
16g.2088249_2088250delCA973770587TSC2c.*3532_*3533del (n.*3532_*3533del)
c.5030_5031del (p.Ser1677ThrfsTer?)
c.5180_5181del (p.Ser1727ThrfsTer?)
c.*5696_*5697del (n.*5696_*5697del)
c.*7932_*7933del (n.*7932_*7933del)
c.5183_5184del (p.Ser1728ThrfsTer?)
c.5114_5115del (p.Ser1705ThrfsTer?)
c.4982_4983del (p.Ser1661ThrfsTer?)
c.5015_5016del (p.Ser1672ThrfsTer?)
c.1406_1407del
n.3065_3066del
c.3837_3838del
c.5042_5043del (p.Ser1681ThrfsTer?)
n.780_781del
c.4985_4986del (p.Ser1662ThrfsTer?)
c.5051_5052del (p.Ser1684ThrfsTer?)
c.4976_4977del (p.Ser1659ThrfsTer?)
n.2831_2832del
c.5108_5109del (p.Ser1703ThrfsTer?)
c.5054_5055del (p.Ser1685ThrfsTer?)
c.5069_5070del (p.Ser1690ThrfsTer?)
c.4979_4980del (p.Ser1660ThrfsTer?)
c.5104_5105del
n.3267_3268del
c.5177_5178del (p.Ser1726ThrfsTer?)
n.3998_3999del
n.2435_2436del
n.2406_2407del
n.2296_2297del
c.4838_4839del (p.Ser1613ThrfsTer?)
c.*4350_*4351del (n.*4350_*4351del)
c.4874_4875del (p.Ser1625ThrfsTer?)
n.2906_2907del
c.1365_1366del
n.2298_2299del
c.5237_5238del (p.Ser1746ThrfsTer?)
c.5234_5235del (p.Ser1745ThrfsTer?)
c.5126_5127del (p.Ser1709ThrfsTer?)
c.5105_5106del (p.Ser1702ThrfsTer?)
c.4451_4452del (p.Ser1484ThrfsTer?)
c.5399_5400del (p.Ser1800ThrfsTer?)
c.5147_5148del (p.Ser1716ThrfsTer?)
c.3893_3894del (p.Ser1298ThrfsTer?)
 gnomAD v3 gnomAD v4
16g.2088250C>ACA394314116TSC2c.*3533C>A (n.*3533C>A)
c.5031C>A (p.Ser1677Arg)
c.5181C>A (p.Ser1727Arg)
c.*5697C>A (n.*5697C>A)
c.*7933C>A (n.*7933C>A)
c.5184C>A (p.Ser1728Arg)
c.5115C>A (p.Ser1705Arg)
c.4983C>A (p.Ser1661Arg)
c.5016C>A (p.Ser1672Arg)
c.1407C>A
n.3066C>A
c.3838C>A
c.5043C>A (p.Ser1681Arg)
n.781C>A
c.4986C>A (p.Ser1662Arg)
c.5052C>A (p.Ser1684Arg)
c.4977C>A (p.Ser1659Arg)
n.2832C>A
c.5109C>A (p.Ser1703Arg)
c.5055C>A (p.Ser1685Arg)
c.5070C>A (p.Ser1690Arg)
c.4980C>A (p.Ser1660Arg)
c.5105C>A
n.3268C>A
c.5178C>A (p.Ser1726Arg)
n.3999C>A
n.2436C>A
n.2407C>A
n.2297C>A
c.4839C>A (p.Ser1613Arg)
c.*4351C>A (n.*4351C>A)
c.4875C>A (p.Ser1625Arg)
n.2907C>A
c.1366C>A
n.2299C>A
c.5238C>A (p.Ser1746Arg)
c.5235C>A (p.Ser1745Arg)
c.5127C>A (p.Ser1709Arg)
c.5106C>A (p.Ser1702Arg)
c.4452C>A (p.Ser1484Arg)
c.5400C>A (p.Ser1800Arg)
c.5148C>A (p.Ser1716Arg)
c.3894C>A (p.Ser1298Arg)
 dbSNP
16g.2088250C=CA2202031736TSC2c.*3533C= (n.*3533C=)
c.5031C= (p.Ser1677=)
c.5181C= (p.Ser1727=)
c.*5697C= (n.*5697C=)
c.*7933C= (n.*7933C=)
c.5184C= (p.Ser1728=)
c.5115C= (p.Ser1705=)
c.4983C= (p.Ser1661=)
c.5016C= (p.Ser1672=)
c.1407C=
n.3066C=
c.3838C=
c.5043C= (p.Ser1681=)
n.781C=
c.4986C= (p.Ser1662=)
c.5052C= (p.Ser1684=)
c.4977C= (p.Ser1659=)
n.2832C=
c.5109C= (p.Ser1703=)
c.5055C= (p.Ser1685=)
c.5070C= (p.Ser1690=)
c.4980C= (p.Ser1660=)
c.5105C=
n.3268C=
c.5178C= (p.Ser1726=)
n.3999C=
n.2436C=
n.2407C=
n.2297C=
c.4839C= (p.Ser1613=)
c.*4351C= (n.*4351C=)
c.4875C= (p.Ser1625=)
n.2907C=
c.1366C=
n.2299C=
c.5238C= (p.Ser1746=)
c.5235C= (p.Ser1745=)
c.5127C= (p.Ser1709=)
c.5106C= (p.Ser1702=)
c.4452C= (p.Ser1484=)
c.5400C= (p.Ser1800=)
c.5148C= (p.Ser1716=)
c.3894C= (p.Ser1298=)
16g.2088250C>GCA394314115TSC2c.*3533C>G (n.*3533C>G)
c.5031C>G (p.Ser1677Arg)
c.5181C>G (p.Ser1727Arg)
c.*5697C>G (n.*5697C>G)
c.*7933C>G (n.*7933C>G)
c.5184C>G (p.Ser1728Arg)
c.5115C>G (p.Ser1705Arg)
c.4983C>G (p.Ser1661Arg)
c.5016C>G (p.Ser1672Arg)
c.1407C>G
n.3066C>G
c.3838C>G
c.5043C>G (p.Ser1681Arg)
n.781C>G
c.4986C>G (p.Ser1662Arg)
c.5052C>G (p.Ser1684Arg)
c.4977C>G (p.Ser1659Arg)
n.2832C>G
c.5109C>G (p.Ser1703Arg)
c.5055C>G (p.Ser1685Arg)
c.5070C>G (p.Ser1690Arg)
c.4980C>G (p.Ser1660Arg)
c.5105C>G
n.3268C>G
c.5178C>G (p.Ser1726Arg)
n.3999C>G
n.2436C>G
n.2407C>G
n.2297C>G
c.4839C>G (p.Ser1613Arg)
c.*4351C>G (n.*4351C>G)
c.4875C>G (p.Ser1625Arg)
n.2907C>G
c.1366C>G
n.2299C>G
c.5238C>G (p.Ser1746Arg)
c.5235C>G (p.Ser1745Arg)
c.5127C>G (p.Ser1709Arg)
c.5106C>G (p.Ser1702Arg)
c.4452C>G (p.Ser1484Arg)
c.5400C>G (p.Ser1800Arg)
c.5148C>G (p.Ser1716Arg)
c.3894C>G (p.Ser1298Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2088250C>TCA022090TSC2c.*3533C>T (n.*3533C>T)
c.5031C>T (p.Ser1677=)
c.5181C>T (p.Ser1727=)
c.*5697C>T (n.*5697C>T)
c.*7933C>T (n.*7933C>T)
c.5184C>T (p.Ser1728=)
c.5115C>T (p.Ser1705=)
c.4983C>T (p.Ser1661=)
c.5016C>T (p.Ser1672=)
c.1407C>T
n.3066C>T
c.3838C>T
c.5043C>T (p.Ser1681=)
n.781C>T
c.4986C>T (p.Ser1662=)
c.5052C>T (p.Ser1684=)
c.4977C>T (p.Ser1659=)
n.2832C>T
c.5109C>T (p.Ser1703=)
c.5055C>T (p.Ser1685=)
c.5070C>T (p.Ser1690=)
c.4980C>T (p.Ser1660=)
c.5105C>T
n.3268C>T
c.5178C>T (p.Ser1726=)
n.3999C>T
n.2436C>T
n.2407C>T
n.2297C>T
c.4839C>T (p.Ser1613=)
c.*4351C>T (n.*4351C>T)
c.4875C>T (p.Ser1625=)
n.2907C>T
c.1366C>T
n.2299C>T
c.5238C>T (p.Ser1746=)
c.5235C>T (p.Ser1745=)
c.5127C>T (p.Ser1709=)
c.5106C>T (p.Ser1702=)
c.4452C>T (p.Ser1484=)
c.5400C>T (p.Ser1800=)
c.5148C>T (p.Ser1716=)
c.3894C>T (p.Ser1298=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.2088250_2088256delCA2805573900TSC2c.*3533_*3539del (n.*3533_*3539del)
c.5031_5037del (p.Ser1677ArgfsTer?)
c.5181_5187del (p.Ser1727ArgfsTer?)
c.*5697_*5703del (n.*5697_*5703del)
c.*7933_*7939del (n.*7933_*7939del)
c.5184_5190del (p.Ser1728ArgfsTer?)
c.5115_5121del (p.Ser1705ArgfsTer?)
c.4983_4989del (p.Ser1661ArgfsTer?)
c.5016_5022del (p.Ser1672ArgfsTer?)
c.1407_1413del
n.3066_3072del
c.3838_3844del
c.5043_5049del (p.Ser1681ArgfsTer?)
n.781_787del
c.4986_4992del (p.Ser1662ArgfsTer?)
c.5052_5058del (p.Ser1684ArgfsTer?)
c.4977_4983del (p.Ser1659ArgfsTer?)
n.2832_2838del
c.5109_5115del (p.Ser1703ArgfsTer?)
c.5055_5061del (p.Ser1685ArgfsTer?)
c.5070_5076del (p.Ser1690ArgfsTer?)
c.4980_4986del (p.Ser1660ArgfsTer?)
c.5105_5111del
n.3268_3274del
c.5178_5184del (p.Ser1726ArgfsTer?)
n.3999_4005del
n.2436_2442del
n.2407_2413del
n.2297_2303del
c.4839_4845del (p.Ser1613ArgfsTer?)
c.*4351_*4357del (n.*4351_*4357del)
c.4875_4881del (p.Ser1625ArgfsTer?)
n.2907_2913del
c.1366_1372del
n.2299_2305del
c.5238_5244del (p.Ser1746ArgfsTer?)
c.5235_5241del (p.Ser1745ArgfsTer?)
c.5127_5133del (p.Ser1709ArgfsTer?)
c.5106_5112del (p.Ser1702ArgfsTer?)
c.4452_4458del (p.Ser1484ArgfsTer?)
c.5400_5406del (p.Ser1800ArgfsTer?)
c.5148_5154del (p.Ser1716ArgfsTer?)
c.3894_3900del (p.Ser1298ArgfsTer?)
16g.2088251C>ACA394314117TSC2c.*3534C>A (n.*3534C>A)
c.5032C>A (p.Arg1678Ser)
c.5182C>A (p.Arg1728Ser)
c.*5698C>A (n.*5698C>A)
c.*7934C>A (n.*7934C>A)
c.5185C>A (p.Arg1729Ser)
c.5116C>A (p.Arg1706Ser)
c.4984C>A (p.Arg1662Ser)
c.5017C>A (p.Arg1673Ser)
c.1408C>A
n.3067C>A
c.3839C>A
c.5044C>A (p.Arg1682Ser)
n.782C>A
c.4987C>A (p.Arg1663Ser)
c.5053C>A (p.Arg1685Ser)
c.4978C>A (p.Arg1660Ser)
n.2833C>A
c.5110C>A (p.Arg1704Ser)
c.5056C>A (p.Arg1686Ser)
c.5071C>A (p.Arg1691Ser)
c.4981C>A (p.Arg1661Ser)
c.5106C>A
n.3269C>A
c.5179C>A (p.Arg1727Ser)
n.4000C>A
n.2437C>A
n.2408C>A
n.2298C>A
c.4840C>A (p.Arg1614Ser)
c.*4352C>A (n.*4352C>A)
c.4876C>A (p.Arg1626Ser)
n.2908C>A
c.1367C>A
n.2300C>A
c.5239C>A (p.Arg1747Ser)
c.5236C>A (p.Arg1746Ser)
c.5128C>A (p.Arg1710Ser)
c.5107C>A (p.Arg1703Ser)
c.4453C>A (p.Arg1485Ser)
c.5401C>A (p.Arg1801Ser)
c.5149C>A (p.Arg1717Ser)
c.3895C>A (p.Arg1299Ser)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
16g.2088251C=CA2202031744TSC2c.*3534C= (n.*3534C=)
c.5032C= (p.Arg1678=)
c.5182C= (p.Arg1728=)
c.*5698C= (n.*5698C=)
c.*7934C= (n.*7934C=)
c.5185C= (p.Arg1729=)
c.5116C= (p.Arg1706=)
c.4984C= (p.Arg1662=)
c.5017C= (p.Arg1673=)
c.1408C=
n.3067C=
c.3839C=
c.5044C= (p.Arg1682=)
n.782C=
c.4987C= (p.Arg1663=)
c.5053C= (p.Arg1685=)
c.4978C= (p.Arg1660=)
n.2833C=
c.5110C= (p.Arg1704=)
c.5056C= (p.Arg1686=)
c.5071C= (p.Arg1691=)
c.4981C= (p.Arg1661=)
c.5106C=
n.3269C=
c.5179C= (p.Arg1727=)
n.4000C=
n.2437C=
n.2408C=
n.2298C=
c.4840C= (p.Arg1614=)
c.*4352C= (n.*4352C=)
c.4876C= (p.Arg1626=)
n.2908C=
c.1367C=
n.2300C=
c.5239C= (p.Arg1747=)
c.5236C= (p.Arg1746=)
c.5128C= (p.Arg1710=)
c.5107C= (p.Arg1703=)
c.4453C= (p.Arg1485=)
c.5401C= (p.Arg1801=)
c.5149C= (p.Arg1717=)
c.3895C= (p.Arg1299=)
16g.2088251C>GCA394314122TSC2c.*3534C>G (n.*3534C>G)
c.5032C>G (p.Arg1678Gly)
c.5182C>G (p.Arg1728Gly)
c.*5698C>G (n.*5698C>G)
c.*7934C>G (n.*7934C>G)
c.5185C>G (p.Arg1729Gly)
c.5116C>G (p.Arg1706Gly)
c.4984C>G (p.Arg1662Gly)
c.5017C>G (p.Arg1673Gly)
c.1408C>G
n.3067C>G
c.3839C>G
c.5044C>G (p.Arg1682Gly)
n.782C>G
c.4987C>G (p.Arg1663Gly)
c.5053C>G (p.Arg1685Gly)
c.4978C>G (p.Arg1660Gly)
n.2833C>G
c.5110C>G (p.Arg1704Gly)
c.5056C>G (p.Arg1686Gly)
c.5071C>G (p.Arg1691Gly)
c.4981C>G (p.Arg1661Gly)
c.5106C>G
n.3269C>G
c.5179C>G (p.Arg1727Gly)
n.4000C>G
n.2437C>G
n.2408C>G
n.2298C>G
c.4840C>G (p.Arg1614Gly)
c.*4352C>G (n.*4352C>G)
c.4876C>G (p.Arg1626Gly)
n.2908C>G
c.1367C>G
n.2300C>G
c.5239C>G (p.Arg1747Gly)
c.5236C>G (p.Arg1746Gly)
c.5128C>G (p.Arg1710Gly)
c.5107C>G (p.Arg1703Gly)
c.4453C>G (p.Arg1485Gly)
c.5401C>G (p.Arg1801Gly)
c.5149C>G (p.Arg1717Gly)
c.3895C>G (p.Arg1299Gly)
 ClinVar dbSNP gnomAD v4
16g.2088251C>TCA022096TSC2c.*3534C>T (n.*3534C>T)
c.5032C>T (p.Arg1678Cys)
c.5182C>T (p.Arg1728Cys)
c.*5698C>T (n.*5698C>T)
c.*7934C>T (n.*7934C>T)
c.5185C>T (p.Arg1729Cys)
c.5116C>T (p.Arg1706Cys)
c.4984C>T (p.Arg1662Cys)
c.5017C>T (p.Arg1673Cys)
c.1408C>T
n.3067C>T
c.3839C>T
c.5044C>T (p.Arg1682Cys)
n.782C>T
c.4987C>T (p.Arg1663Cys)
c.5053C>T (p.Arg1685Cys)
c.4978C>T (p.Arg1660Cys)
n.2833C>T
c.5110C>T (p.Arg1704Cys)
c.5056C>T (p.Arg1686Cys)
c.5071C>T (p.Arg1691Cys)
c.4981C>T (p.Arg1661Cys)
c.5106C>T
n.3269C>T
c.5179C>T (p.Arg1727Cys)
n.4000C>T
n.2437C>T
n.2408C>T
n.2298C>T
c.4840C>T (p.Arg1614Cys)
c.*4352C>T (n.*4352C>T)
c.4876C>T (p.Arg1626Cys)
n.2908C>T
c.1367C>T
n.2300C>T
c.5239C>T (p.Arg1747Cys)
c.5236C>T (p.Arg1746Cys)
c.5128C>T (p.Arg1710Cys)
c.5107C>T (p.Arg1703Cys)
c.4453C>T (p.Arg1485Cys)
c.5401C>T (p.Arg1801Cys)
c.5149C>T (p.Arg1717Cys)
c.3895C>T (p.Arg1299Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2088252G>ACA054348TSC2c.*3535G>A (n.*3535G>A)
c.5033G>A (p.Arg1678His)
c.5183G>A (p.Arg1728His)
c.*5699G>A (n.*5699G>A)
c.*7935G>A (n.*7935G>A)
c.5186G>A (p.Arg1729His)
c.5117G>A (p.Arg1706His)
c.4985G>A (p.Arg1662His)
c.5018G>A (p.Arg1673His)
c.1409G>A
n.3068G>A
c.3840G>A
c.5045G>A (p.Arg1682His)
n.783G>A
c.4988G>A (p.Arg1663His)
c.5054G>A (p.Arg1685His)
c.4979G>A (p.Arg1660His)
n.2834G>A
c.5111G>A (p.Arg1704His)
c.5057G>A (p.Arg1686His)
c.5072G>A (p.Arg1691His)
c.4982G>A (p.Arg1661His)
c.5107G>A
n.3270G>A
c.5180G>A (p.Arg1727His)
n.4001G>A
n.2438G>A
n.2409G>A
n.2299G>A
c.4841G>A (p.Arg1614His)
c.*4353G>A (n.*4353G>A)
c.4877G>A (p.Arg1626His)
n.2909G>A
c.1368G>A
n.2301G>A
c.5240G>A (p.Arg1747His)
c.5237G>A (p.Arg1746His)
c.5129G>A (p.Arg1710His)
c.5108G>A (p.Arg1703His)
c.4454G>A (p.Arg1485His)
c.5402G>A (p.Arg1801His)
c.5150G>A (p.Arg1717His)
c.3896G>A (p.Arg1299His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2088252G>CCA276759337TSC2c.*3535G>C (n.*3535G>C)
c.5033G>C (p.Arg1678Pro)
c.5183G>C (p.Arg1728Pro)
c.*5699G>C (n.*5699G>C)
c.*7935G>C (n.*7935G>C)
c.5186G>C (p.Arg1729Pro)
c.5117G>C (p.Arg1706Pro)
c.4985G>C (p.Arg1662Pro)
c.5018G>C (p.Arg1673Pro)
c.1409G>C
n.3068G>C
c.3840G>C
c.5045G>C (p.Arg1682Pro)
n.783G>C
c.4988G>C (p.Arg1663Pro)
c.5054G>C (p.Arg1685Pro)
c.4979G>C (p.Arg1660Pro)
n.2834G>C
c.5111G>C (p.Arg1704Pro)
c.5057G>C (p.Arg1686Pro)
c.5072G>C (p.Arg1691Pro)
c.4982G>C (p.Arg1661Pro)
c.5107G>C
n.3270G>C
c.5180G>C (p.Arg1727Pro)
n.4001G>C
n.2438G>C
n.2409G>C
n.2299G>C
c.4841G>C (p.Arg1614Pro)
c.*4353G>C (n.*4353G>C)
c.4877G>C (p.Arg1626Pro)
n.2909G>C
c.1368G>C
n.2301G>C
c.5240G>C (p.Arg1747Pro)
c.5237G>C (p.Arg1746Pro)
c.5129G>C (p.Arg1710Pro)
c.5108G>C (p.Arg1703Pro)
c.4454G>C (p.Arg1485Pro)
c.5402G>C (p.Arg1801Pro)
c.5150G>C (p.Arg1717Pro)
c.3896G>C (p.Arg1299Pro)
 dbSNP gnomAD v4
16g.2088252G=CA2202031767TSC2c.*3535G= (n.*3535G=)
c.5033G= (p.Arg1678=)
c.5183G= (p.Arg1728=)
c.*5699G= (n.*5699G=)
c.*7935G= (n.*7935G=)
c.5186G= (p.Arg1729=)
c.5117G= (p.Arg1706=)
c.4985G= (p.Arg1662=)
c.5018G= (p.Arg1673=)
c.1409G=
n.3068G=
c.3840G=
c.5045G= (p.Arg1682=)
n.783G=
c.4988G= (p.Arg1663=)
c.5054G= (p.Arg1685=)
c.4979G= (p.Arg1660=)
n.2834G=
c.5111G= (p.Arg1704=)
c.5057G= (p.Arg1686=)
c.5072G= (p.Arg1691=)
c.4982G= (p.Arg1661=)
c.5107G=
n.3270G=
c.5180G= (p.Arg1727=)
n.4001G=
n.2438G=
n.2409G=
n.2299G=
c.4841G= (p.Arg1614=)
c.*4353G= (n.*4353G=)
c.4877G= (p.Arg1626=)
n.2909G=
c.1368G=
n.2301G=
c.5240G= (p.Arg1747=)
c.5237G= (p.Arg1746=)
c.5129G= (p.Arg1710=)
c.5108G= (p.Arg1703=)
c.4454G= (p.Arg1485=)
c.5402G= (p.Arg1801=)
c.5150G= (p.Arg1717=)
c.3896G= (p.Arg1299=)
16g.2088252G>TCA394314128TSC2c.*3535G>T (n.*3535G>T)
c.5033G>T (p.Arg1678Leu)
c.5183G>T (p.Arg1728Leu)
c.*5699G>T (n.*5699G>T)
c.*7935G>T (n.*7935G>T)
c.5186G>T (p.Arg1729Leu)
c.5117G>T (p.Arg1706Leu)
c.4985G>T (p.Arg1662Leu)
c.5018G>T (p.Arg1673Leu)
c.1409G>T
n.3068G>T
c.3840G>T
c.5045G>T (p.Arg1682Leu)
n.783G>T
c.4988G>T (p.Arg1663Leu)
c.5054G>T (p.Arg1685Leu)
c.4979G>T (p.Arg1660Leu)
n.2834G>T
c.5111G>T (p.Arg1704Leu)
c.5057G>T (p.Arg1686Leu)
c.5072G>T (p.Arg1691Leu)
c.4982G>T (p.Arg1661Leu)
c.5107G>T
n.3270G>T
c.5180G>T (p.Arg1727Leu)
n.4001G>T
n.2438G>T
n.2409G>T
n.2299G>T
c.4841G>T (p.Arg1614Leu)
c.*4353G>T (n.*4353G>T)
c.4877G>T (p.Arg1626Leu)
n.2909G>T
c.1368G>T
n.2301G>T
c.5240G>T (p.Arg1747Leu)
c.5237G>T (p.Arg1746Leu)
c.5129G>T (p.Arg1710Leu)
c.5108G>T (p.Arg1703Leu)
c.4454G>T (p.Arg1485Leu)
c.5402G>T (p.Arg1801Leu)
c.5150G>T (p.Arg1717Leu)
c.3896G>T (p.Arg1299Leu)
 dbSNP gnomAD v2 gnomAD v4
16g.2088252_2088256delinsGCTCCCA2202031774TSC2c.*3535_*3539delinsGCTCC (n.*3535_*3539delinsGCTCC)
c.5033_5037delinsGCTCC (p.Arg1678=)
c.5183_5187delinsGCTCC (p.Arg1728=)
c.*5699_*5703delinsGCTCC (n.*5699_*5703delinsGCTCC)
c.*7935_*7939delinsGCTCC (n.*7935_*7939delinsGCTCC)
c.5186_5190delinsGCTCC (p.Arg1729=)
c.5117_5121delinsGCTCC (p.Arg1706=)
c.4985_4989delinsGCTCC (p.Arg1662=)
c.5018_5022delinsGCTCC (p.Arg1673=)
c.1409_1413delinsGCTCC
n.3068_3072delinsGCTCC
c.3840_3844delinsGCTCC
c.5045_5049delinsGCTCC (p.Arg1682=)
n.783_787delinsGCTCC
c.4988_4992delinsGCTCC (p.Arg1663=)
c.5054_5058delinsGCTCC (p.Arg1685=)
c.4979_4983delinsGCTCC (p.Arg1660=)
n.2834_2838delinsGCTCC
c.5111_5115delinsGCTCC (p.Arg1704=)
c.5057_5061delinsGCTCC (p.Arg1686=)
c.5072_5076delinsGCTCC (p.Arg1691=)
c.4982_4986delinsGCTCC (p.Arg1661=)
c.5107_5111delinsGCTCC
n.3270_3274delinsGCTCC
c.5180_5184delinsGCTCC (p.Arg1727=)
n.4001_4005delinsGCTCC
n.2438_2442delinsGCTCC
n.2409_2413delinsGCTCC
n.2299_2303delinsGCTCC
c.4841_4845delinsGCTCC (p.Arg1614=)
c.*4353_*4357delinsGCTCC (n.*4353_*4357delinsGCTCC)
c.4877_4881delinsGCTCC (p.Arg1626=)
n.2909_2913delinsGCTCC
c.1368_1372delinsGCTCC
n.2301_2305delinsGCTCC
c.5240_5244delinsGCTCC (p.Arg1747=)
c.5237_5241delinsGCTCC (p.Arg1746=)
c.5129_5133delinsGCTCC (p.Arg1710=)
c.5108_5112delinsGCTCC (p.Arg1703=)
c.4454_4458delinsGCTCC (p.Arg1485=)
c.5402_5406delinsGCTCC (p.Arg1801=)
c.5150_5154delinsGCTCC (p.Arg1717=)
c.3896_3900delinsGCTCC (p.Arg1299=)
16g.2088252_2088259delinsGCTCCAACCA2202031769TSC2c.*3535_*3542delinsGCTCCAAC (n.*3535_*3542delinsGCTCCAAC)
c.5033_5040delinsGCTCCAAC (p.Arg1678=)
c.5183_5190delinsGCTCCAAC (p.Arg1728=)
c.*5699_*5706delinsGCTCCAAC (n.*5699_*5706delinsGCTCCAAC)
c.*7935_*7942delinsGCTCCAAC (n.*7935_*7942delinsGCTCCAAC)
c.5186_5193delinsGCTCCAAC (p.Arg1729=)
c.5117_5124delinsGCTCCAAC (p.Arg1706=)
c.4985_4992delinsGCTCCAAC (p.Arg1662=)
c.5018_5025delinsGCTCCAAC (p.Arg1673=)
c.1409_1416delinsGCTCCAAC
n.3068_3075delinsGCTCCAAC
c.3840_3847delinsGCTCCAAC
c.5045_5052delinsGCTCCAAC (p.Arg1682=)
n.783_790delinsGCTCCAAC
c.4988_4995delinsGCTCCAAC (p.Arg1663=)
c.5054_5061delinsGCTCCAAC (p.Arg1685=)
c.4979_4986delinsGCTCCAAC (p.Arg1660=)
n.2834_2841delinsGCTCCAAC
c.5111_5118delinsGCTCCAAC (p.Arg1704=)
c.5057_5064delinsGCTCCAAC (p.Arg1686=)
c.5072_5079delinsGCTCCAAC (p.Arg1691=)
c.4982_4989delinsGCTCCAAC (p.Arg1661=)
c.5107_5114delinsGCTCCAAC
n.3270_3277delinsGCTCCAAC
c.5180_5187delinsGCTCCAAC (p.Arg1727=)
n.4001_4008delinsGCTCCAAC
n.2438_2445delinsGCTCCAAC
n.2409_2416delinsGCTCCAAC
n.2299_2306delinsGCTCCAAC
c.4841_4848delinsGCTCCAAC (p.Arg1614=)
c.*4353_*4360delinsGCTCCAAC (n.*4353_*4360delinsGCTCCAAC)
c.4877_4884delinsGCTCCAAC (p.Arg1626=)
n.2909_2916delinsGCTCCAAC
c.1368_1375delinsGCTCCAAC
n.2301_2308delinsGCTCCAAC
c.5240_5247delinsGCTCCAAC (p.Arg1747=)
c.5237_5244delinsGCTCCAAC (p.Arg1746=)
c.5129_5136delinsGCTCCAAC (p.Arg1710=)
c.5108_5115delinsGCTCCAAC (p.Arg1703=)
c.4454_4461delinsGCTCCAAC (p.Arg1485=)
c.5402_5409delinsGCTCCAAC (p.Arg1801=)
c.5150_5157delinsGCTCCAAC (p.Arg1717=)
c.3896_3903delinsGCTCCAAC (p.Arg1299=)
16g.2088253delCA973770606TSC2c.*3536del (n.*3536del)
c.5034del (p.Ser1679ProfsTer?)
c.5184del (p.Ser1729ProfsTer?)
c.*5700del (n.*5700del)
c.*7936del (n.*7936del)
c.5187del (p.Ser1730ProfsTer?)
c.5118del (p.Ser1707ProfsTer?)
c.4986del (p.Ser1663ProfsTer?)
c.5019del (p.Ser1674ProfsTer?)
c.1410del
n.3069del
c.3841del
c.5046del (p.Ser1683ProfsTer?)
n.784del
c.4989del (p.Ser1664ProfsTer?)
c.5055del (p.Ser1686ProfsTer?)
c.4980del (p.Ser1661ProfsTer?)
n.2835del
c.5112del (p.Ser1705ProfsTer?)
c.5058del (p.Ser1687ProfsTer?)
c.5073del (p.Ser1692ProfsTer?)
c.4983del (p.Ser1662ProfsTer?)
c.5108del
n.3271del
c.5181del (p.Ser1728ProfsTer?)
n.4002del
n.2439del
n.2410del
n.2300del
c.4842del (p.Ser1615ProfsTer?)
c.*4354del (n.*4354del)
c.4878del (p.Ser1627ProfsTer?)
n.2910del
c.1369del
n.2302del
c.5241del (p.Ser1748ProfsTer?)
c.5238del (p.Ser1747ProfsTer?)
c.5130del (p.Ser1711ProfsTer?)
c.5109del (p.Ser1704ProfsTer?)
c.4455del (p.Ser1486ProfsTer?)
c.5403del (p.Ser1802ProfsTer?)
c.5151del (p.Ser1718ProfsTer?)
c.3897del (p.Ser1300ProfsTer?)
 gnomAD v3 gnomAD v4
16g.2088253C>ACA493043747TSC2c.*3536C>A (n.*3536C>A)
c.5034C>A (p.Arg1678=)
c.5184C>A (p.Arg1728=)
c.*5700C>A (n.*5700C>A)
c.*7936C>A (n.*7936C>A)
c.5187C>A (p.Arg1729=)
c.5118C>A (p.Arg1706=)
c.4986C>A (p.Arg1662=)
c.5019C>A (p.Arg1673=)
c.1410C>A
n.3069C>A
c.3841C>A
c.5046C>A (p.Arg1682=)
n.784C>A
c.4989C>A (p.Arg1663=)
c.5055C>A (p.Arg1685=)
c.4980C>A (p.Arg1660=)
n.2835C>A
c.5112C>A (p.Arg1704=)
c.5058C>A (p.Arg1686=)
c.5073C>A (p.Arg1691=)
c.4983C>A (p.Arg1661=)
c.5108C>A
n.3271C>A
c.5181C>A (p.Arg1727=)
n.4002C>A
n.2439C>A
n.2410C>A
n.2300C>A
c.4842C>A (p.Arg1614=)
c.*4354C>A (n.*4354C>A)
c.4878C>A (p.Arg1626=)
n.2910C>A
c.1369C>A
n.2302C>A
c.5241C>A (p.Arg1747=)
c.5238C>A (p.Arg1746=)
c.5130C>A (p.Arg1710=)
c.5109C>A (p.Arg1703=)
c.4455C>A (p.Arg1485=)
c.5403C>A (p.Arg1801=)
c.5151C>A (p.Arg1717=)
c.3897C>A (p.Arg1299=)
16g.2088253C=CA2202031784TSC2c.*3536C= (n.*3536C=)
c.5034C= (p.Arg1678=)
c.5184C= (p.Arg1728=)
c.*5700C= (n.*5700C=)
c.*7936C= (n.*7936C=)
c.5187C= (p.Arg1729=)
c.5118C= (p.Arg1706=)
c.4986C= (p.Arg1662=)
c.5019C= (p.Arg1673=)
c.1410C=
n.3069C=
c.3841C=
c.5046C= (p.Arg1682=)
n.784C=
c.4989C= (p.Arg1663=)
c.5055C= (p.Arg1685=)
c.4980C= (p.Arg1660=)
n.2835C=
c.5112C= (p.Arg1704=)
c.5058C= (p.Arg1686=)
c.5073C= (p.Arg1691=)
c.4983C= (p.Arg1661=)
c.5108C=
n.3271C=
c.5181C= (p.Arg1727=)
n.4002C=
n.2439C=
n.2410C=
n.2300C=
c.4842C= (p.Arg1614=)
c.*4354C= (n.*4354C=)
c.4878C= (p.Arg1626=)
n.2910C=
c.1369C=
n.2302C=
c.5241C= (p.Arg1747=)
c.5238C= (p.Arg1746=)
c.5130C= (p.Arg1710=)
c.5109C= (p.Arg1703=)
c.4455C= (p.Arg1485=)
c.5403C= (p.Arg1801=)
c.5151C= (p.Arg1717=)
c.3897C= (p.Arg1299=)
16g.2088253C>GCA493043748TSC2c.*3536C>G (n.*3536C>G)
c.5034C>G (p.Arg1678=)
c.5184C>G (p.Arg1728=)
c.*5700C>G (n.*5700C>G)
c.*7936C>G (n.*7936C>G)
c.5187C>G (p.Arg1729=)
c.5118C>G (p.Arg1706=)
c.4986C>G (p.Arg1662=)
c.5019C>G (p.Arg1673=)
c.1410C>G
n.3069C>G
c.3841C>G
c.5046C>G (p.Arg1682=)
n.784C>G
c.4989C>G (p.Arg1663=)
c.5055C>G (p.Arg1685=)
c.4980C>G (p.Arg1660=)
n.2835C>G
c.5112C>G (p.Arg1704=)
c.5058C>G (p.Arg1686=)
c.5073C>G (p.Arg1691=)
c.4983C>G (p.Arg1661=)
c.5108C>G
n.3271C>G
c.5181C>G (p.Arg1727=)
n.4002C>G
n.2439C>G
n.2410C>G
n.2300C>G
c.4842C>G (p.Arg1614=)
c.*4354C>G (n.*4354C>G)
c.4878C>G (p.Arg1626=)
n.2910C>G
c.1369C>G
n.2302C>G
c.5241C>G (p.Arg1747=)
c.5238C>G (p.Arg1746=)
c.5130C>G (p.Arg1710=)
c.5109C>G (p.Arg1703=)
c.4455C>G (p.Arg1485=)
c.5403C>G (p.Arg1801=)
c.5151C>G (p.Arg1717=)
c.3897C>G (p.Arg1299=)
 ClinVar dbSNP gnomAD v4
16g.2088253C>TCA493043749TSC2c.*3536C>T (n.*3536C>T)
c.5034C>T (p.Arg1678=)
c.5184C>T (p.Arg1728=)
c.*5700C>T (n.*5700C>T)
c.*7936C>T (n.*7936C>T)
c.5187C>T (p.Arg1729=)
c.5118C>T (p.Arg1706=)
c.4986C>T (p.Arg1662=)
c.5019C>T (p.Arg1673=)
c.1410C>T
n.3069C>T
c.3841C>T
c.5046C>T (p.Arg1682=)
n.784C>T
c.4989C>T (p.Arg1663=)
c.5055C>T (p.Arg1685=)
c.4980C>T (p.Arg1660=)
n.2835C>T
c.5112C>T (p.Arg1704=)
c.5058C>T (p.Arg1686=)
c.5073C>T (p.Arg1691=)
c.4983C>T (p.Arg1661=)
c.5108C>T
n.3271C>T
c.5181C>T (p.Arg1727=)
n.4002C>T
n.2439C>T
n.2410C>T
n.2300C>T
c.4842C>T (p.Arg1614=)
c.*4354C>T (n.*4354C>T)
c.4878C>T (p.Arg1626=)
n.2910C>T
c.1369C>T
n.2302C>T
c.5241C>T (p.Arg1747=)
c.5238C>T (p.Arg1746=)
c.5130C>T (p.Arg1710=)
c.5109C>T (p.Arg1703=)
c.4455C>T (p.Arg1485=)
c.5403C>T (p.Arg1801=)
c.5151C>T (p.Arg1717=)
c.3897C>T (p.Arg1299=)
 ClinVar dbSNP gnomAD v4
16g.2088253_2088256delCA620705067TSC2c.*3536_*3539del (n.*3536_*3539del)
c.5034_5037del (p.Ser1679ThrfsTer?)
c.5184_5187del (p.Ser1729ThrfsTer?)
c.*5700_*5703del (n.*5700_*5703del)
c.*7936_*7939del (n.*7936_*7939del)
c.5187_5190del (p.Ser1730ThrfsTer?)
c.5118_5121del (p.Ser1707ThrfsTer?)
c.4986_4989del (p.Ser1663ThrfsTer?)
c.5019_5022del (p.Ser1674ThrfsTer?)
c.1410_1413del
n.3069_3072del
c.3841_3844del
c.5046_5049del (p.Ser1683ThrfsTer?)
n.784_787del
c.4989_4992del (p.Ser1664ThrfsTer?)
c.5055_5058del (p.Ser1686ThrfsTer?)
c.4980_4983del (p.Ser1661ThrfsTer?)
n.2835_2838del
c.5112_5115del (p.Ser1705ThrfsTer?)
c.5058_5061del (p.Ser1687ThrfsTer?)
c.5073_5076del (p.Ser1692ThrfsTer?)
c.4983_4986del (p.Ser1662ThrfsTer?)
c.5108_5111del
n.3271_3274del
c.5181_5184del (p.Ser1728ThrfsTer?)
n.4002_4005del
n.2439_2442del
n.2410_2413del
n.2300_2303del
c.4842_4845del (p.Ser1615ThrfsTer?)
c.*4354_*4357del (n.*4354_*4357del)
c.4878_4881del (p.Ser1627ThrfsTer?)
n.2910_2913del
c.1369_1372del
n.2302_2305del
c.5241_5244del (p.Ser1748ThrfsTer?)
c.5238_5241del (p.Ser1747ThrfsTer?)
c.5130_5133del (p.Ser1711ThrfsTer?)
c.5109_5112del (p.Ser1704ThrfsTer?)
c.4455_4458del (p.Ser1486ThrfsTer?)
c.5403_5406del (p.Ser1802ThrfsTer?)
c.5151_5154del (p.Ser1718ThrfsTer?)
c.3897_3900del (p.Ser1300ThrfsTer?)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2088254_2088260delCA973770608TSC2c.*3537_*3543del (n.*3537_*3543del)
c.5035_5041del (p.Ser1679ProfsTer?)
c.5185_5191del (p.Ser1729ProfsTer?)
c.*5701_*5707del (n.*5701_*5707del)
c.*7937_*7943del (n.*7937_*7943del)
c.5188_5194del (p.Ser1730ProfsTer?)
c.5119_5125del (p.Ser1707ProfsTer?)
c.4987_4993del (p.Ser1663ProfsTer?)
c.5020_5026del (p.Ser1674ProfsTer?)
c.1411_1417del
n.3070_3076del
c.3842_3848del
c.5047_5053del (p.Ser1683ProfsTer?)
n.785_791del
c.4990_4996del (p.Ser1664ProfsTer?)
c.5056_5062del (p.Ser1686ProfsTer?)
c.4981_4987del (p.Ser1661ProfsTer?)
n.2836_2842del
c.5113_5119del (p.Ser1705ProfsTer?)
c.5059_5065del (p.Ser1687ProfsTer?)
c.5074_5080del (p.Ser1692ProfsTer?)
c.4984_4990del (p.Ser1662ProfsTer?)
c.5109_5115del
n.3272_3278del
c.5182_5188del (p.Ser1728ProfsTer?)
n.4003_4009del
n.2440_2446del
n.2411_2417del
n.2301_2307del
c.4843_4849del (p.Ser1615ProfsTer?)
c.*4355_*4361del (n.*4355_*4361del)
c.4879_4885del (p.Ser1627ProfsTer?)
n.2911_2917del
c.1370_1376del
n.2303_2309del
c.5242_5248del (p.Ser1748ProfsTer?)
c.5239_5245del (p.Ser1747ProfsTer?)
c.5131_5137del (p.Ser1711ProfsTer?)
c.5110_5116del (p.Ser1704ProfsTer?)
c.4456_4462del (p.Ser1486ProfsTer?)
c.5404_5410del (p.Ser1802ProfsTer?)
c.5152_5158del (p.Ser1718ProfsTer?)
c.3898_3904del (p.Ser1300ProfsTer?)
 dbSNP gnomAD v3 gnomAD v4
16g.2088254T>ACA394314134TSC2c.*3537T>A (n.*3537T>A)
c.5035T>A (p.Ser1679Thr)
c.5185T>A (p.Ser1729Thr)
c.*5701T>A (n.*5701T>A)
c.*7937T>A (n.*7937T>A)
c.5188T>A (p.Ser1730Thr)
c.5119T>A (p.Ser1707Thr)
c.4987T>A (p.Ser1663Thr)
c.5020T>A (p.Ser1674Thr)
c.1411T>A
n.3070T>A
c.3842T>A
c.5047T>A (p.Ser1683Thr)
n.785T>A
c.4990T>A (p.Ser1664Thr)
c.5056T>A (p.Ser1686Thr)
c.4981T>A (p.Ser1661Thr)
n.2836T>A
c.5113T>A (p.Ser1705Thr)
c.5059T>A (p.Ser1687Thr)
c.5074T>A (p.Ser1692Thr)
c.4984T>A (p.Ser1662Thr)
c.5109T>A
n.3272T>A
c.5182T>A (p.Ser1728Thr)
n.4003T>A
n.2440T>A
n.2411T>A
n.2301T>A
c.4843T>A (p.Ser1615Thr)
c.*4355T>A (n.*4355T>A)
c.4879T>A (p.Ser1627Thr)
n.2911T>A
c.1370T>A
n.2303T>A
c.5242T>A (p.Ser1748Thr)
c.5239T>A (p.Ser1747Thr)
c.5131T>A (p.Ser1711Thr)
c.5110T>A (p.Ser1704Thr)
c.4456T>A (p.Ser1486Thr)
c.5404T>A (p.Ser1802Thr)
c.5152T>A (p.Ser1718Thr)
c.3898T>A (p.Ser1300Thr)
16g.2088254T>CCA394314140TSC2c.*3537T>C (n.*3537T>C)
c.5035T>C (p.Ser1679Pro)
c.5185T>C (p.Ser1729Pro)
c.*5701T>C (n.*5701T>C)
c.*7937T>C (n.*7937T>C)
c.5188T>C (p.Ser1730Pro)
c.5119T>C (p.Ser1707Pro)
c.4987T>C (p.Ser1663Pro)
c.5020T>C (p.Ser1674Pro)
c.1411T>C
n.3070T>C
c.3842T>C
c.5047T>C (p.Ser1683Pro)
n.785T>C
c.4990T>C (p.Ser1664Pro)
c.5056T>C (p.Ser1686Pro)
c.4981T>C (p.Ser1661Pro)
n.2836T>C
c.5113T>C (p.Ser1705Pro)
c.5059T>C (p.Ser1687Pro)
c.5074T>C (p.Ser1692Pro)
c.4984T>C (p.Ser1662Pro)
c.5109T>C
n.3272T>C
c.5182T>C (p.Ser1728Pro)
n.4003T>C
n.2440T>C
n.2411T>C
n.2301T>C
c.4843T>C (p.Ser1615Pro)
c.*4355T>C (n.*4355T>C)
c.4879T>C (p.Ser1627Pro)
n.2911T>C
c.1370T>C
n.2303T>C
c.5242T>C (p.Ser1748Pro)
c.5239T>C (p.Ser1747Pro)
c.5131T>C (p.Ser1711Pro)
c.5110T>C (p.Ser1704Pro)
c.4456T>C (p.Ser1486Pro)
c.5404T>C (p.Ser1802Pro)
c.5152T>C (p.Ser1718Pro)
c.3898T>C (p.Ser1300Pro)
 ClinVar dbSNP gnomAD v4
16g.2088254T>GCA394314147TSC2c.*3537T>G (n.*3537T>G)
c.5035T>G (p.Ser1679Ala)
c.5185T>G (p.Ser1729Ala)
c.*5701T>G (n.*5701T>G)
c.*7937T>G (n.*7937T>G)
c.5188T>G (p.Ser1730Ala)
c.5119T>G (p.Ser1707Ala)
c.4987T>G (p.Ser1663Ala)
c.5020T>G (p.Ser1674Ala)
c.1411T>G
n.3070T>G
c.3842T>G
c.5047T>G (p.Ser1683Ala)
n.785T>G
c.4990T>G (p.Ser1664Ala)
c.5056T>G (p.Ser1686Ala)
c.4981T>G (p.Ser1661Ala)
n.2836T>G
c.5113T>G (p.Ser1705Ala)
c.5059T>G (p.Ser1687Ala)
c.5074T>G (p.Ser1692Ala)
c.4984T>G (p.Ser1662Ala)
c.5109T>G
n.3272T>G
c.5182T>G (p.Ser1728Ala)
n.4003T>G
n.2440T>G
n.2411T>G
n.2301T>G
c.4843T>G (p.Ser1615Ala)
c.*4355T>G (n.*4355T>G)
c.4879T>G (p.Ser1627Ala)
n.2911T>G
c.1370T>G
n.2303T>G
c.5242T>G (p.Ser1748Ala)
c.5239T>G (p.Ser1747Ala)
c.5131T>G (p.Ser1711Ala)
c.5110T>G (p.Ser1704Ala)
c.4456T>G (p.Ser1486Ala)
c.5404T>G (p.Ser1802Ala)
c.5152T>G (p.Ser1718Ala)
c.3898T>G (p.Ser1300Ala)
 gnomAD v3 gnomAD v4
16g.2088255C>ACA394314148TSC2c.*3538C>A (n.*3538C>A)
c.5036C>A (p.Ser1679Tyr)
c.5186C>A (p.Ser1729Tyr)
c.*5702C>A (n.*5702C>A)
c.*7938C>A (n.*7938C>A)
c.5189C>A (p.Ser1730Tyr)
c.5120C>A (p.Ser1707Tyr)
c.4988C>A (p.Ser1663Tyr)
c.5021C>A (p.Ser1674Tyr)
c.1412C>A
n.3071C>A
c.3843C>A
c.5048C>A (p.Ser1683Tyr)
n.786C>A
c.4991C>A (p.Ser1664Tyr)
c.5057C>A (p.Ser1686Tyr)
c.4982C>A (p.Ser1661Tyr)
n.2837C>A
c.5114C>A (p.Ser1705Tyr)
c.5060C>A (p.Ser1687Tyr)
c.5075C>A (p.Ser1692Tyr)
c.4985C>A (p.Ser1662Tyr)
c.5110C>A
n.3273C>A
c.5183C>A (p.Ser1728Tyr)
n.4004C>A
n.2441C>A
n.2412C>A
n.2302C>A
c.4844C>A (p.Ser1615Tyr)
c.*4356C>A (n.*4356C>A)
c.4880C>A (p.Ser1627Tyr)
n.2912C>A
c.1371C>A
n.2304C>A
c.5243C>A (p.Ser1748Tyr)
c.5240C>A (p.Ser1747Tyr)
c.5132C>A (p.Ser1711Tyr)
c.5111C>A (p.Ser1704Tyr)
c.4457C>A (p.Ser1486Tyr)
c.5405C>A (p.Ser1802Tyr)
c.5153C>A (p.Ser1718Tyr)
c.3899C>A (p.Ser1300Tyr)
16g.2088255C=CA2202031789TSC2c.*3538C= (n.*3538C=)
c.5036C= (p.Ser1679=)
c.5186C= (p.Ser1729=)
c.*5702C= (n.*5702C=)
c.*7938C= (n.*7938C=)
c.5189C= (p.Ser1730=)
c.5120C= (p.Ser1707=)
c.4988C= (p.Ser1663=)
c.5021C= (p.Ser1674=)
c.1412C=
n.3071C=
c.3843C=
c.5048C= (p.Ser1683=)
n.786C=
c.4991C= (p.Ser1664=)
c.5057C= (p.Ser1686=)
c.4982C= (p.Ser1661=)
n.2837C=
c.5114C= (p.Ser1705=)
c.5060C= (p.Ser1687=)
c.5075C= (p.Ser1692=)
c.4985C= (p.Ser1662=)
c.5110C=
n.3273C=
c.5183C= (p.Ser1728=)
n.4004C=
n.2441C=
n.2412C=
n.2302C=
c.4844C= (p.Ser1615=)
c.*4356C= (n.*4356C=)
c.4880C= (p.Ser1627=)
n.2912C=
c.1371C=
n.2304C=
c.5243C= (p.Ser1748=)
c.5240C= (p.Ser1747=)
c.5132C= (p.Ser1711=)
c.5111C= (p.Ser1704=)
c.4457C= (p.Ser1486=)
c.5405C= (p.Ser1802=)
c.5153C= (p.Ser1718=)
c.3899C= (p.Ser1300=)
16g.2088255C>GCA394314149TSC2c.*3538C>G (n.*3538C>G)
c.5036C>G (p.Ser1679Cys)
c.5186C>G (p.Ser1729Cys)
c.*5702C>G (n.*5702C>G)
c.*7938C>G (n.*7938C>G)
c.5189C>G (p.Ser1730Cys)
c.5120C>G (p.Ser1707Cys)
c.4988C>G (p.Ser1663Cys)
c.5021C>G (p.Ser1674Cys)
c.1412C>G
n.3071C>G
c.3843C>G
c.5048C>G (p.Ser1683Cys)
n.786C>G
c.4991C>G (p.Ser1664Cys)
c.5057C>G (p.Ser1686Cys)
c.4982C>G (p.Ser1661Cys)
n.2837C>G
c.5114C>G (p.Ser1705Cys)
c.5060C>G (p.Ser1687Cys)
c.5075C>G (p.Ser1692Cys)
c.4985C>G (p.Ser1662Cys)
c.5110C>G
n.3273C>G
c.5183C>G (p.Ser1728Cys)
n.4004C>G
n.2441C>G
n.2412C>G
n.2302C>G
c.4844C>G (p.Ser1615Cys)
c.*4356C>G (n.*4356C>G)
c.4880C>G (p.Ser1627Cys)
n.2912C>G
c.1371C>G
n.2304C>G
c.5243C>G (p.Ser1748Cys)
c.5240C>G (p.Ser1747Cys)
c.5132C>G (p.Ser1711Cys)
c.5111C>G (p.Ser1704Cys)
c.4457C>G (p.Ser1486Cys)
c.5405C>G (p.Ser1802Cys)
c.5153C>G (p.Ser1718Cys)
c.3899C>G (p.Ser1300Cys)
 ClinVar dbSNP gnomAD v4
16g.2088255C>TCA394314151TSC2c.*3538C>T (n.*3538C>T)
c.5036C>T (p.Ser1679Phe)
c.5186C>T (p.Ser1729Phe)
c.*5702C>T (n.*5702C>T)
c.*7938C>T (n.*7938C>T)
c.5189C>T (p.Ser1730Phe)
c.5120C>T (p.Ser1707Phe)
c.4988C>T (p.Ser1663Phe)
c.5021C>T (p.Ser1674Phe)
c.1412C>T
n.3071C>T
c.3843C>T
c.5048C>T (p.Ser1683Phe)
n.786C>T
c.4991C>T (p.Ser1664Phe)
c.5057C>T (p.Ser1686Phe)
c.4982C>T (p.Ser1661Phe)
n.2837C>T
c.5114C>T (p.Ser1705Phe)
c.5060C>T (p.Ser1687Phe)
c.5075C>T (p.Ser1692Phe)
c.4985C>T (p.Ser1662Phe)
c.5110C>T
n.3273C>T
c.5183C>T (p.Ser1728Phe)
n.4004C>T
n.2441C>T
n.2412C>T
n.2302C>T
c.4844C>T (p.Ser1615Phe)
c.*4356C>T (n.*4356C>T)
c.4880C>T (p.Ser1627Phe)
n.2912C>T
c.1371C>T
n.2304C>T
c.5243C>T (p.Ser1748Phe)
c.5240C>T (p.Ser1747Phe)
c.5132C>T (p.Ser1711Phe)
c.5111C>T (p.Ser1704Phe)
c.4457C>T (p.Ser1486Phe)
c.5405C>T (p.Ser1802Phe)
c.5153C>T (p.Ser1718Phe)
c.3899C>T (p.Ser1300Phe)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.2088256C>ACA493043755TSC2c.*3539C>A (n.*3539C>A)
c.5037C>A (p.Ser1679=)
c.5187C>A (p.Ser1729=)
c.*5703C>A (n.*5703C>A)
c.*7939C>A (n.*7939C>A)
c.5190C>A (p.Ser1730=)
c.5121C>A (p.Ser1707=)
c.4989C>A (p.Ser1663=)
c.5022C>A (p.Ser1674=)
c.1413C>A
n.3072C>A
c.3844C>A
c.5049C>A (p.Ser1683=)
n.787C>A
c.4992C>A (p.Ser1664=)
c.5058C>A (p.Ser1686=)
c.4983C>A (p.Ser1661=)
n.2838C>A
c.5115C>A (p.Ser1705=)
c.5061C>A (p.Ser1687=)
c.5076C>A (p.Ser1692=)
c.4986C>A (p.Ser1662=)
c.5111C>A
n.3274C>A
c.5184C>A (p.Ser1728=)
n.4005C>A
n.2442C>A
n.2413C>A
n.2303C>A
c.4845C>A (p.Ser1615=)
c.*4357C>A (n.*4357C>A)
c.4881C>A (p.Ser1627=)
n.2913C>A
c.1372C>A
n.2305C>A
c.5244C>A (p.Ser1748=)
c.5241C>A (p.Ser1747=)
c.5133C>A (p.Ser1711=)
c.5112C>A (p.Ser1704=)
c.4458C>A (p.Ser1486=)
c.5406C>A (p.Ser1802=)
c.5154C>A (p.Ser1718=)
c.3900C>A (p.Ser1300=)
 ClinVar dbSNP
16g.2088256C=CA2202031799TSC2c.*3539C= (n.*3539C=)
c.5037C= (p.Ser1679=)
c.5187C= (p.Ser1729=)
c.*5703C= (n.*5703C=)
c.*7939C= (n.*7939C=)
c.5190C= (p.Ser1730=)
c.5121C= (p.Ser1707=)
c.4989C= (p.Ser1663=)
c.5022C= (p.Ser1674=)
c.1413C=
n.3072C=
c.3844C=
c.5049C= (p.Ser1683=)
n.787C=
c.4992C= (p.Ser1664=)
c.5058C= (p.Ser1686=)
c.4983C= (p.Ser1661=)
n.2838C=
c.5115C= (p.Ser1705=)
c.5061C= (p.Ser1687=)
c.5076C= (p.Ser1692=)
c.4986C= (p.Ser1662=)
c.5111C=
n.3274C=
c.5184C= (p.Ser1728=)
n.4005C=
n.2442C=
n.2413C=
n.2303C=
c.4845C= (p.Ser1615=)
c.*4357C= (n.*4357C=)
c.4881C= (p.Ser1627=)
n.2913C=
c.1372C=
n.2305C=
c.5244C= (p.Ser1748=)
c.5241C= (p.Ser1747=)
c.5133C= (p.Ser1711=)
c.5112C= (p.Ser1704=)
c.4458C= (p.Ser1486=)
c.5406C= (p.Ser1802=)
c.5154C= (p.Ser1718=)
c.3900C= (p.Ser1300=)
16g.2088256C>GCA493043754TSC2c.*3539C>G (n.*3539C>G)
c.5037C>G (p.Ser1679=)
c.5187C>G (p.Ser1729=)
c.*5703C>G (n.*5703C>G)
c.*7939C>G (n.*7939C>G)
c.5190C>G (p.Ser1730=)
c.5121C>G (p.Ser1707=)
c.4989C>G (p.Ser1663=)
c.5022C>G (p.Ser1674=)
c.1413C>G
n.3072C>G
c.3844C>G
c.5049C>G (p.Ser1683=)
n.787C>G
c.4992C>G (p.Ser1664=)
c.5058C>G (p.Ser1686=)
c.4983C>G (p.Ser1661=)
n.2838C>G
c.5115C>G (p.Ser1705=)
c.5061C>G (p.Ser1687=)
c.5076C>G (p.Ser1692=)
c.4986C>G (p.Ser1662=)
c.5111C>G
n.3274C>G
c.5184C>G (p.Ser1728=)
n.4005C>G
n.2442C>G
n.2413C>G
n.2303C>G
c.4845C>G (p.Ser1615=)
c.*4357C>G (n.*4357C>G)
c.4881C>G (p.Ser1627=)
n.2913C>G
c.1372C>G
n.2305C>G
c.5244C>G (p.Ser1748=)
c.5241C>G (p.Ser1747=)
c.5133C>G (p.Ser1711=)
c.5112C>G (p.Ser1704=)
c.4458C>G (p.Ser1486=)
c.5406C>G (p.Ser1802=)
c.5154C>G (p.Ser1718=)
c.3900C>G (p.Ser1300=)
 dbSNP
16g.2088256C>TCA493043753TSC2c.*3539C>T (n.*3539C>T)
c.5037C>T (p.Ser1679=)
c.5187C>T (p.Ser1729=)
c.*5703C>T (n.*5703C>T)
c.*7939C>T (n.*7939C>T)
c.5190C>T (p.Ser1730=)
c.5121C>T (p.Ser1707=)
c.4989C>T (p.Ser1663=)
c.5022C>T (p.Ser1674=)
c.1413C>T
n.3072C>T
c.3844C>T
c.5049C>T (p.Ser1683=)
n.787C>T
c.4992C>T (p.Ser1664=)
c.5058C>T (p.Ser1686=)
c.4983C>T (p.Ser1661=)
n.2838C>T
c.5115C>T (p.Ser1705=)
c.5061C>T (p.Ser1687=)
c.5076C>T (p.Ser1692=)
c.4986C>T (p.Ser1662=)
c.5111C>T
n.3274C>T
c.5184C>T (p.Ser1728=)
n.4005C>T
n.2442C>T
n.2413C>T
n.2303C>T
c.4845C>T (p.Ser1615=)
c.*4357C>T (n.*4357C>T)
c.4881C>T (p.Ser1627=)
n.2913C>T
c.1372C>T
n.2305C>T
c.5244C>T (p.Ser1748=)
c.5241C>T (p.Ser1747=)
c.5133C>T (p.Ser1711=)
c.5112C>T (p.Ser1704=)
c.4458C>T (p.Ser1486=)
c.5406C>T (p.Ser1802=)
c.5154C>T (p.Ser1718=)
c.3900C>T (p.Ser1300=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
16g.2088256_2088257delinsCACA2202031802TSC2c.*3539_*3540delinsCA (n.*3539_*3540delinsCA)
c.5037_5038delinsCA (p.Ser1679=)
c.5187_5188delinsCA (p.Ser1729=)
c.*5703_*5704delinsCA (n.*5703_*5704delinsCA)
c.*7939_*7940delinsCA (n.*7939_*7940delinsCA)
c.5190_5191delinsCA (p.Ser1730=)
c.5121_5122delinsCA (p.Ser1707=)
c.4989_4990delinsCA (p.Ser1663=)
c.5022_5023delinsCA (p.Ser1674=)
c.1413_1414delinsCA
n.3072_3073delinsCA
c.3844_3845delinsCA
c.5049_5050delinsCA (p.Ser1683=)
n.787_788delinsCA
c.4992_4993delinsCA (p.Ser1664=)
c.5058_5059delinsCA (p.Ser1686=)
c.4983_4984delinsCA (p.Ser1661=)
n.2838_2839delinsCA
c.5115_5116delinsCA (p.Ser1705=)
c.5061_5062delinsCA (p.Ser1687=)
c.5076_5077delinsCA (p.Ser1692=)
c.4986_4987delinsCA (p.Ser1662=)
c.5111_5112delinsCA
n.3274_3275delinsCA
c.5184_5185delinsCA (p.Ser1728=)
n.4005_4006delinsCA
n.2442_2443delinsCA
n.2413_2414delinsCA
n.2303_2304delinsCA
c.4845_4846delinsCA (p.Ser1615=)
c.*4357_*4358delinsCA (n.*4357_*4358delinsCA)
c.4881_4882delinsCA (p.Ser1627=)
n.2913_2914delinsCA
c.1372_1373delinsCA
n.2305_2306delinsCA
c.5244_5245delinsCA (p.Ser1748=)
c.5241_5242delinsCA (p.Ser1747=)
c.5133_5134delinsCA (p.Ser1711=)
c.5112_5113delinsCA (p.Ser1704=)
c.4458_4459delinsCA (p.Ser1486=)
c.5406_5407delinsCA (p.Ser1802=)
c.5154_5155delinsCA (p.Ser1718=)
c.3900_3901delinsCA (p.Ser1300=)
16g.2088257A=CA2202031811TSC2c.*3540A= (n.*3540A=)
c.5038A= (p.Asn1680=)
c.5188A= (p.Asn1730=)
c.*5704A= (n.*5704A=)
c.*7940A= (n.*7940A=)
c.5191A= (p.Asn1731=)
c.5122A= (p.Asn1708=)
c.4990A= (p.Asn1664=)
c.5023A= (p.Asn1675=)
c.1414A=
n.3073A=
c.3845A=
c.5050A= (p.Asn1684=)
n.788A=
c.4993A= (p.Asn1665=)
c.5059A= (p.Asn1687=)
c.4984A= (p.Asn1662=)
n.2839A=
c.5116A= (p.Asn1706=)
c.5062A= (p.Asn1688=)
c.5077A= (p.Asn1693=)
c.4987A= (p.Asn1663=)
c.5112A=
n.3275A=
c.5185A= (p.Asn1729=)
n.4006A=
n.2443A=
n.2414A=
n.2304A=
c.4846A= (p.Asn1616=)
c.*4358A= (n.*4358A=)
c.4882A= (p.Asn1628=)
n.2914A=
c.1373A=
n.2306A=
c.5245A= (p.Asn1749=)
c.5242A= (p.Asn1748=)
c.5134A= (p.Asn1712=)
c.5113A= (p.Asn1705=)
c.4459A= (p.Asn1487=)
c.5407A= (p.Asn1803=)
c.5155A= (p.Asn1719=)
c.3901A= (p.Asn1301=)
16g.2088257A>CCA394314161TSC2c.*3540A>C (n.*3540A>C)
c.5038A>C (p.Asn1680His)
c.5188A>C (p.Asn1730His)
c.*5704A>C (n.*5704A>C)
c.*7940A>C (n.*7940A>C)
c.5191A>C (p.Asn1731His)
c.5122A>C (p.Asn1708His)
c.4990A>C (p.Asn1664His)
c.5023A>C (p.Asn1675His)
c.1414A>C
n.3073A>C
c.3845A>C
c.5050A>C (p.Asn1684His)
n.788A>C
c.4993A>C (p.Asn1665His)
c.5059A>C (p.Asn1687His)
c.4984A>C (p.Asn1662His)
n.2839A>C
c.5116A>C (p.Asn1706His)
c.5062A>C (p.Asn1688His)
c.5077A>C (p.Asn1693His)
c.4987A>C (p.Asn1663His)
c.5112A>C
n.3275A>C
c.5185A>C (p.Asn1729His)
n.4006A>C
n.2443A>C
n.2414A>C
n.2304A>C
c.4846A>C (p.Asn1616His)
c.*4358A>C (n.*4358A>C)
c.4882A>C (p.Asn1628His)
n.2914A>C
c.1373A>C
n.2306A>C
c.5245A>C (p.Asn1749His)
c.5242A>C (p.Asn1748His)
c.5134A>C (p.Asn1712His)
c.5113A>C (p.Asn1705His)
c.4459A>C (p.Asn1487His)
c.5407A>C (p.Asn1803His)
c.5155A>C (p.Asn1719His)
c.3901A>C (p.Asn1301His)
 ClinVar dbSNP gnomAD v4
16g.2088257A>GCA394314156TSC2c.*3540A>G (n.*3540A>G)
c.5038A>G (p.Asn1680Asp)
c.5188A>G (p.Asn1730Asp)
c.*5704A>G (n.*5704A>G)
c.*7940A>G (n.*7940A>G)
c.5191A>G (p.Asn1731Asp)
c.5122A>G (p.Asn1708Asp)
c.4990A>G (p.Asn1664Asp)
c.5023A>G (p.Asn1675Asp)
c.1414A>G
n.3073A>G
c.3845A>G
c.5050A>G (p.Asn1684Asp)
n.788A>G
c.4993A>G (p.Asn1665Asp)
c.5059A>G (p.Asn1687Asp)
c.4984A>G (p.Asn1662Asp)
n.2839A>G
c.5116A>G (p.Asn1706Asp)
c.5062A>G (p.Asn1688Asp)
c.5077A>G (p.Asn1693Asp)
c.4987A>G (p.Asn1663Asp)
c.5112A>G
n.3275A>G
c.5185A>G (p.Asn1729Asp)
n.4006A>G
n.2443A>G
n.2414A>G
n.2304A>G
c.4846A>G (p.Asn1616Asp)
c.*4358A>G (n.*4358A>G)
c.4882A>G (p.Asn1628Asp)
n.2914A>G
c.1373A>G
n.2306A>G
c.5245A>G (p.Asn1749Asp)
c.5242A>G (p.Asn1748Asp)
c.5134A>G (p.Asn1712Asp)
c.5113A>G (p.Asn1705Asp)
c.4459A>G (p.Asn1487Asp)
c.5407A>G (p.Asn1803Asp)
c.5155A>G (p.Asn1719Asp)
c.3901A>G (p.Asn1301Asp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.2088257A>TCA394314159TSC2c.*3540A>T (n.*3540A>T)
c.5038A>T (p.Asn1680Tyr)
c.5188A>T (p.Asn1730Tyr)
c.*5704A>T (n.*5704A>T)
c.*7940A>T (n.*7940A>T)
c.5191A>T (p.Asn1731Tyr)
c.5122A>T (p.Asn1708Tyr)
c.4990A>T (p.Asn1664Tyr)
c.5023A>T (p.Asn1675Tyr)
c.1414A>T
n.3073A>T
c.3845A>T
c.5050A>T (p.Asn1684Tyr)
n.788A>T
c.4993A>T (p.Asn1665Tyr)
c.5059A>T (p.Asn1687Tyr)
c.4984A>T (p.Asn1662Tyr)
n.2839A>T
c.5116A>T (p.Asn1706Tyr)
c.5062A>T (p.Asn1688Tyr)
c.5077A>T (p.Asn1693Tyr)
c.4987A>T (p.Asn1663Tyr)
c.5112A>T
n.3275A>T
c.5185A>T (p.Asn1729Tyr)
n.4006A>T
n.2443A>T
n.2414A>T
n.2304A>T
c.4846A>T (p.Asn1616Tyr)
c.*4358A>T (n.*4358A>T)
c.4882A>T (p.Asn1628Tyr)
n.2914A>T
c.1373A>T
n.2306A>T
c.5245A>T (p.Asn1749Tyr)
c.5242A>T (p.Asn1748Tyr)
c.5134A>T (p.Asn1712Tyr)
c.5113A>T (p.Asn1705Tyr)
c.4459A>T (p.Asn1487Tyr)
c.5407A>T (p.Asn1803Tyr)
c.5155A>T (p.Asn1719Tyr)
c.3901A>T (p.Asn1301Tyr)
16g.2088258dupCA2695221754TSC2c.*3541dup (n.*3541dup)
c.5039dup (p.Asn1680LysfsTer?)
c.5189dup (p.Asn1730LysfsTer?)
c.*5705dup (n.*5705dup)
c.*7941dup (n.*7941dup)
c.5192dup (p.Asn1731LysfsTer?)
c.5123dup (p.Asn1708LysfsTer?)
c.4991dup (p.Asn1664LysfsTer?)
c.5024dup (p.Asn1675LysfsTer?)
c.1415dup
n.3074dup
c.3846dup
c.5051dup (p.Asn1684LysfsTer?)
n.789dup
c.4994dup (p.Asn1665LysfsTer?)
c.5060dup (p.Asn1687LysfsTer?)
c.4985dup (p.Asn1662LysfsTer?)
n.2840dup
c.5117dup (p.Asn1706LysfsTer?)
c.5063dup (p.Asn1688LysfsTer?)
c.5078dup (p.Asn1693LysfsTer?)
c.4988dup (p.Asn1663LysfsTer?)
c.5113dup
n.3276dup
c.5186dup (p.Asn1729LysfsTer?)
n.4007dup
n.2444dup
n.2415dup
n.2305dup
c.4847dup (p.Asn1616LysfsTer?)
c.*4359dup (n.*4359dup)
c.4883dup (p.Asn1628LysfsTer?)
n.2915dup
c.1374dup
n.2307dup
c.5246dup (p.Asn1749LysfsTer?)
c.5243dup (p.Asn1748LysfsTer?)
c.5135dup (p.Asn1712LysfsTer?)
c.5114dup (p.Asn1705LysfsTer?)
c.4460dup (p.Asn1487LysfsTer?)
c.5408dup (p.Asn1803LysfsTer?)
c.5156dup (p.Asn1719LysfsTer?)
c.3902dup (p.Asn1301LysfsTer?)
16g.2088258delCA022102TSC2c.*3541del (n.*3541del)
c.5039del (p.Asn1680ThrfsTer?)
c.5189del (p.Asn1730ThrfsTer?)
c.*5705del (n.*5705del)
c.*7941del (n.*7941del)
c.5192del (p.Asn1731ThrfsTer?)
c.5123del (p.Asn1708ThrfsTer?)
c.4991del (p.Asn1664ThrfsTer?)
c.5024del (p.Asn1675ThrfsTer?)
c.1415del
n.3074del
c.3846del
c.5051del (p.Asn1684ThrfsTer?)
n.789del
c.4994del (p.Asn1665ThrfsTer?)
c.5060del (p.Asn1687ThrfsTer?)
c.4985del (p.Asn1662ThrfsTer?)
n.2840del
c.5117del (p.Asn1706ThrfsTer?)
c.5063del (p.Asn1688ThrfsTer?)
c.5078del (p.Asn1693ThrfsTer?)
c.4988del (p.Asn1663ThrfsTer?)
c.5113del
n.3276del
c.5186del (p.Asn1729ThrfsTer?)
n.4007del
n.2444del
n.2415del
n.2305del
c.4847del (p.Asn1616ThrfsTer?)
c.*4359del (n.*4359del)
c.4883del (p.Asn1628ThrfsTer?)
n.2915del
c.1374del
n.2307del
c.5246del (p.Asn1749ThrfsTer?)
c.5243del (p.Asn1748ThrfsTer?)
c.5135del (p.Asn1712ThrfsTer?)
c.5114del (p.Asn1705ThrfsTer?)
c.4460del (p.Asn1487ThrfsTer?)
c.5408del (p.Asn1803ThrfsTer?)
c.5156del (p.Asn1719ThrfsTer?)
c.3902del (p.Asn1301ThrfsTer?)
 ClinVar dbSNP
16g.2088257_2088260delinsAACCCA2202031808TSC2c.*3540_*3543delinsAACC (n.*3540_*3543delinsAACC)
c.5038_5041delinsAACC (p.Asn1680=)
c.5188_5191delinsAACC (p.Asn1730=)
c.*5704_*5707delinsAACC (n.*5704_*5707delinsAACC)
c.*7940_*7943delinsAACC (n.*7940_*7943delinsAACC)
c.5191_5194delinsAACC (p.Asn1731=)
c.5122_5125delinsAACC (p.Asn1708=)
c.4990_4993delinsAACC (p.Asn1664=)
c.5023_5026delinsAACC (p.Asn1675=)
c.1414_1417delinsAACC
n.3073_3076delinsAACC
c.3845_3848delinsAACC
c.5050_5053delinsAACC (p.Asn1684=)
n.788_791delinsAACC
c.4993_4996delinsAACC (p.Asn1665=)
c.5059_5062delinsAACC (p.Asn1687=)
c.4984_4987delinsAACC (p.Asn1662=)
n.2839_2842delinsAACC
c.5116_5119delinsAACC (p.Asn1706=)
c.5062_5065delinsAACC (p.Asn1688=)
c.5077_5080delinsAACC (p.Asn1693=)
c.4987_4990delinsAACC (p.Asn1663=)
c.5112_5115delinsAACC
n.3275_3278delinsAACC
c.5185_5188delinsAACC (p.Asn1729=)
n.4006_4009delinsAACC
n.2443_2446delinsAACC
n.2414_2417delinsAACC
n.2304_2307delinsAACC
c.4846_4849delinsAACC (p.Asn1616=)
c.*4358_*4361delinsAACC (n.*4358_*4361delinsAACC)
c.4882_4885delinsAACC (p.Asn1628=)
n.2914_2917delinsAACC
c.1373_1376delinsAACC
n.2306_2309delinsAACC
c.5245_5248delinsAACC (p.Asn1749=)
c.5242_5245delinsAACC (p.Asn1748=)
c.5134_5137delinsAACC (p.Asn1712=)
c.5113_5116delinsAACC (p.Asn1705=)
c.4459_4462delinsAACC (p.Asn1487=)
c.5407_5410delinsAACC (p.Asn1803=)
c.5155_5158delinsAACC (p.Asn1719=)
c.3901_3904delinsAACC (p.Asn1301=)
16g.2088257_2088272delinsAACCCCACCGATATCTCA2202031818TSC2c.*3540_*3555delinsAACCCCACCGATATCT (n.*3540_*3555delinsAACCCCACCGATATCT)
c.5038_5053delinsAACCCCACCGATATCT (p.Asn1680=)
c.5188_5203delinsAACCCCACCGATATCT (p.Asn1730=)
c.*5704_*5719delinsAACCCCACCGATATCT (n.*5704_*5719delinsAACCCCACCGATATCT)
c.*7940_*7955delinsAACCCCACCGATATCT (n.*7940_*7955delinsAACCCCACCGATATCT)
c.5191_5206delinsAACCCCACCGATATCT (p.Asn1731=)
c.5122_5137delinsAACCCCACCGATATCT (p.Asn1708=)
c.4990_5005delinsAACCCCACCGATATCT (p.Asn1664=)
c.5023_5038delinsAACCCCACCGATATCT (p.Asn1675=)
c.1414_1429delinsAACCCCACCGATATCT
n.3073_3088delinsAACCCCACCGATATCT
c.3845_3860delinsAACCCCACCGATATCT
c.5050_5065delinsAACCCCACCGATATCT (p.Asn1684=)
n.788_803delinsAACCCCACCGATATCT
c.4993_5008delinsAACCCCACCGATATCT (p.Asn1665=)
c.5059_5074delinsAACCCCACCGATATCT (p.Asn1687=)
c.4984_4999delinsAACCCCACCGATATCT (p.Asn1662=)
n.2839_2854delinsAACCCCACCGATATCT
c.5116_5131delinsAACCCCACCGATATCT (p.Asn1706=)
c.5062_5077delinsAACCCCACCGATATCT (p.Asn1688=)
c.5077_5092delinsAACCCCACCGATATCT (p.Asn1693=)
c.4987_5002delinsAACCCCACCGATATCT (p.Asn1663=)
c.5112_5127delinsAACCCCACCGATATCT
n.3275_3290delinsAACCCCACCGATATCT
c.5185_5200delinsAACCCCACCGATATCT (p.Asn1729=)
n.4006_4021delinsAACCCCACCGATATCT
n.2443_2458delinsAACCCCACCGATATCT
n.2414_2429delinsAACCCCACCGATATCT
n.2304_2319delinsAACCCCACCGATATCT
c.4846_4861delinsAACCCCACCGATATCT (p.Asn1616=)
c.*4358_*4373delinsAACCCCACCGATATCT (n.*4358_*4373delinsAACCCCACCGATATCT)
c.4882_4897delinsAACCCCACCGATATCT (p.Asn1628=)
n.2914_2929delinsAACCCCACCGATATCT
c.1373_1388delinsAACCCCACCGATATCT
n.2306_2321delinsAACCCCACCGATATCT
c.5245_5260delinsAACCCCACCGATATCT (p.Asn1749=)
c.5242_5257delinsAACCCCACCGATATCT (p.Asn1748=)
c.5134_5149delinsAACCCCACCGATATCT (p.Asn1712=)
c.5113_5128delinsAACCCCACCGATATCT (p.Asn1705=)
c.4459_4474delinsAACCCCACCGATATCT (p.Asn1487=)
c.5407_5422delinsAACCCCACCGATATCT (p.Asn1803=)
c.5155_5170delinsAACCCCACCGATATCT (p.Asn1719=)
c.3901_3916delinsAACCCCACCGATATCT (p.Asn1301=)
16g.2088258A=CA2202031830TSC2c.*3541A= (n.*3541A=)
c.5039A= (p.Asn1680=)
c.5189A= (p.Asn1730=)
c.*5705A= (n.*5705A=)
c.*7941A= (n.*7941A=)
c.5192A= (p.Asn1731=)
c.5123A= (p.Asn1708=)
c.4991A= (p.Asn1664=)
c.5024A= (p.Asn1675=)
c.1415A=
n.3074A=
c.3846A=
c.5051A= (p.Asn1684=)
n.789A=
c.4994A= (p.Asn1665=)
c.5060A= (p.Asn1687=)
c.4985A= (p.Asn1662=)
n.2840A=
c.5117A= (p.Asn1706=)
c.5063A= (p.Asn1688=)
c.5078A= (p.Asn1693=)
c.4988A= (p.Asn1663=)
c.5113A=
n.3276A=
c.5186A= (p.Asn1729=)
n.4007A=
n.2444A=
n.2415A=
n.2305A=
c.4847A= (p.Asn1616=)
c.*4359A= (n.*4359A=)
c.4883A= (p.Asn1628=)
n.2915A=
c.1374A=
n.2307A=
c.5246A= (p.Asn1749=)
c.5243A= (p.Asn1748=)
c.5135A= (p.Asn1712=)
c.5114A= (p.Asn1705=)
c.4460A= (p.Asn1487=)
c.5408A= (p.Asn1803=)
c.5156A= (p.Asn1719=)
c.3902A= (p.Asn1301=)
16g.2088258A>CCA394314166TSC2c.*3541A>C (n.*3541A>C)
c.5039A>C (p.Asn1680Thr)
c.5189A>C (p.Asn1730Thr)
c.*5705A>C (n.*5705A>C)
c.*7941A>C (n.*7941A>C)
c.5192A>C (p.Asn1731Thr)
c.5123A>C (p.Asn1708Thr)
c.4991A>C (p.Asn1664Thr)
c.5024A>C (p.Asn1675Thr)
c.1415A>C
n.3074A>C
c.3846A>C
c.5051A>C (p.Asn1684Thr)
n.789A>C
c.4994A>C (p.Asn1665Thr)
c.5060A>C (p.Asn1687Thr)
c.4985A>C (p.Asn1662Thr)
n.2840A>C
c.5117A>C (p.Asn1706Thr)
c.5063A>C (p.Asn1688Thr)
c.5078A>C (p.Asn1693Thr)
c.4988A>C (p.Asn1663Thr)
c.5113A>C
n.3276A>C
c.5186A>C (p.Asn1729Thr)
n.4007A>C
n.2444A>C
n.2415A>C
n.2305A>C
c.4847A>C (p.Asn1616Thr)
c.*4359A>C (n.*4359A>C)
c.4883A>C (p.Asn1628Thr)
n.2915A>C
c.1374A>C
n.2307A>C
c.5246A>C (p.Asn1749Thr)
c.5243A>C (p.Asn1748Thr)
c.5135A>C (p.Asn1712Thr)
c.5114A>C (p.Asn1705Thr)
c.4460A>C (p.Asn1487Thr)
c.5408A>C (p.Asn1803Thr)
c.5156A>C (p.Asn1719Thr)
c.3902A>C (p.Asn1301Thr)
 dbSNP gnomAD v3 gnomAD v4
16g.2088258A>GCA054360TSC2c.*3541A>G (n.*3541A>G)
c.5039A>G (p.Asn1680Ser)
c.5189A>G (p.Asn1730Ser)
c.*5705A>G (n.*5705A>G)
c.*7941A>G (n.*7941A>G)
c.5192A>G (p.Asn1731Ser)
c.5123A>G (p.Asn1708Ser)
c.4991A>G (p.Asn1664Ser)
c.5024A>G (p.Asn1675Ser)
c.1415A>G
n.3074A>G
c.3846A>G
c.5051A>G (p.Asn1684Ser)
n.789A>G
c.4994A>G (p.Asn1665Ser)
c.5060A>G (p.Asn1687Ser)
c.4985A>G (p.Asn1662Ser)
n.2840A>G
c.5117A>G (p.Asn1706Ser)
c.5063A>G (p.Asn1688Ser)
c.5078A>G (p.Asn1693Ser)
c.4988A>G (p.Asn1663Ser)
c.5113A>G
n.3276A>G
c.5186A>G (p.Asn1729Ser)
n.4007A>G
n.2444A>G
n.2415A>G
n.2305A>G
c.4847A>G (p.Asn1616Ser)
c.*4359A>G (n.*4359A>G)
c.4883A>G (p.Asn1628Ser)
n.2915A>G
c.1374A>G
n.2307A>G
c.5246A>G (p.Asn1749Ser)
c.5243A>G (p.Asn1748Ser)
c.5135A>G (p.Asn1712Ser)
c.5114A>G (p.Asn1705Ser)
c.4460A>G (p.Asn1487Ser)
c.5408A>G (p.Asn1803Ser)
c.5156A>G (p.Asn1719Ser)
c.3902A>G (p.Asn1301Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2088258A>TCA394314171TSC2c.*3541A>T (n.*3541A>T)
c.5039A>T (p.Asn1680Ile)
c.5189A>T (p.Asn1730Ile)
c.*5705A>T (n.*5705A>T)
c.*7941A>T (n.*7941A>T)
c.5192A>T (p.Asn1731Ile)
c.5123A>T (p.Asn1708Ile)
c.4991A>T (p.Asn1664Ile)
c.5024A>T (p.Asn1675Ile)
c.1415A>T
n.3074A>T
c.3846A>T
c.5051A>T (p.Asn1684Ile)
n.789A>T
c.4994A>T (p.Asn1665Ile)
c.5060A>T (p.Asn1687Ile)
c.4985A>T (p.Asn1662Ile)
n.2840A>T
c.5117A>T (p.Asn1706Ile)
c.5063A>T (p.Asn1688Ile)
c.5078A>T (p.Asn1693Ile)
c.4988A>T (p.Asn1663Ile)
c.5113A>T
n.3276A>T
c.5186A>T (p.Asn1729Ile)
n.4007A>T
n.2444A>T
n.2415A>T
n.2305A>T
c.4847A>T (p.Asn1616Ile)
c.*4359A>T (n.*4359A>T)
c.4883A>T (p.Asn1628Ile)
n.2915A>T
c.1374A>T
n.2307A>T
c.5246A>T (p.Asn1749Ile)
c.5243A>T (p.Asn1748Ile)
c.5135A>T (p.Asn1712Ile)
c.5114A>T (p.Asn1705Ile)
c.4460A>T (p.Asn1487Ile)
c.5408A>T (p.Asn1803Ile)
c.5156A>T (p.Asn1719Ile)
c.3902A>T (p.Asn1301Ile)
16g.2088258_2088260delCA620705068TSC2c.*3541_*3543del (n.*3541_*3543del)
c.5039_5041del (p.Asn1680_Pro1681delinsThr)
c.5189_5191del (p.Asn1730_Pro1731delinsThr)
c.*5705_*5707del (n.*5705_*5707del)
c.*7941_*7943del (n.*7941_*7943del)
c.5192_5194del (p.Asn1731_Pro1732delinsThr)
c.5123_5125del (p.Asn1708_Pro1709delinsThr)
c.4991_4993del (p.Asn1664_Pro1665delinsThr)
c.5024_5026del (p.Asn1675_Pro1676delinsThr)
c.1415_1417del
n.3074_3076del
c.3846_3848del
c.5051_5053del (p.Asn1684_Pro1685delinsThr)
n.789_791del
c.4994_4996del (p.Asn1665_Pro1666delinsThr)
c.5060_5062del (p.Asn1687_Pro1688delinsThr)
c.4985_4987del (p.Asn1662_Pro1663delinsThr)
n.2840_2842del
c.5117_5119del (p.Asn1706_Pro1707delinsThr)
c.5063_5065del (p.Asn1688_Pro1689delinsThr)
c.5078_5080del (p.Asn1693_Pro1694delinsThr)
c.4988_4990del (p.Asn1663_Pro1664delinsThr)
c.5113_5115del
n.3276_3278del
c.5186_5188del (p.Asn1729_Pro1730delinsThr)
n.4007_4009del
n.2444_2446del
n.2415_2417del
n.2305_2307del
c.4847_4849del (p.Asn1616_Pro1617delinsThr)
c.*4359_*4361del (n.*4359_*4361del)
c.4883_4885del (p.Asn1628_Pro1629delinsThr)
n.2915_2917del
c.1374_1376del
n.2307_2309del
c.5246_5248del (p.Asn1749_Pro1750delinsThr)
c.5243_5245del (p.Asn1748_Pro1749delinsThr)
c.5135_5137del (p.Asn1712_Pro1713delinsThr)
c.5114_5116del (p.Asn1705_Pro1706delinsThr)
c.4460_4462del (p.Asn1487_Pro1488delinsThr)
c.5408_5410del (p.Asn1803_Pro1804delinsThr)
c.5156_5158del (p.Asn1719_Pro1720delinsThr)
c.3902_3904del (p.Asn1301_Pro1302delinsThr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2088263_2088277delCA658656652TSC2c.*3546_*3560del (n.*3546_*3560del)
c.5044_5058del (p.Thr1682_Pro1686del)
c.5194_5208del (p.Thr1732_Pro1736del)
c.*5710_*5724del (n.*5710_*5724del)
c.*7946_*7960del (n.*7946_*7960del)
c.5197_5211del (p.Thr1733_Pro1737del)
c.5128_5142del (p.Thr1710_Pro1714del)
c.4996_5010del (p.Thr1666_Pro1670del)
c.5029_5043del (p.Thr1677_Pro1681del)
c.1420_1434del
n.3079_3093del
c.3851_3865del
c.5056_5070del (p.Thr1686_Pro1690del)
n.794_808del
c.4999_5013del (p.Thr1667_Pro1671del)
c.5065_5079del (p.Thr1689_Pro1693del)
c.4990_5004del (p.Thr1664_Pro1668del)
n.2845_2859del
c.5122_5136del (p.Thr1708_Pro1712del)
c.5068_5082del (p.Thr1690_Pro1694del)
c.5083_5097del (p.Thr1695_Pro1699del)
c.4993_5007del (p.Thr1665_Pro1669del)
c.5118_5132del
n.3281_3295del
c.5191_5205del (p.Thr1731_Pro1735del)
n.4012_4026del
n.2449_2463del
n.2420_2434del
n.2310_2324del
c.4852_4866del (p.Thr1618_Pro1622del)
c.*4364_*4378del (n.*4364_*4378del)
c.4888_4902del (p.Thr1630_Pro1634del)
n.2920_2934del
c.1379_1393del
n.2312_2326del
c.5251_5265del (p.Thr1751_Pro1755del)
c.5248_5262del (p.Thr1750_Pro1754del)
c.5140_5154del (p.Thr1714_Pro1718del)
c.5119_5133del (p.Thr1707_Pro1711del)
c.4465_4479del (p.Thr1489_Pro1493del)
c.5413_5427del (p.Thr1805_Pro1809del)
c.5161_5175del (p.Thr1721_Pro1725del)
c.3907_3921del (p.Thr1303_Pro1307del)
 ClinVar dbSNP
16g.2088259C>ACA394314174TSC2c.*3542C>A (n.*3542C>A)
c.5040C>A (p.Asn1680Lys)
c.5190C>A (p.Asn1730Lys)
c.*5706C>A (n.*5706C>A)
c.*7942C>A (n.*7942C>A)
c.5193C>A (p.Asn1731Lys)
c.5124C>A (p.Asn1708Lys)
c.4992C>A (p.Asn1664Lys)
c.5025C>A (p.Asn1675Lys)
c.1416C>A
n.3075C>A
c.3847C>A
c.5052C>A (p.Asn1684Lys)
n.790C>A
c.4995C>A (p.Asn1665Lys)
c.5061C>A (p.Asn1687Lys)
c.4986C>A (p.Asn1662Lys)
n.2841C>A
c.5118C>A (p.Asn1706Lys)
c.5064C>A (p.Asn1688Lys)
c.5079C>A (p.Asn1693Lys)
c.4989C>A (p.Asn1663Lys)
c.5114C>A
n.3277C>A
c.5187C>A (p.Asn1729Lys)
n.4008C>A
n.2445C>A
n.2416C>A
n.2306C>A
c.4848C>A (p.Asn1616Lys)
c.*4360C>A (n.*4360C>A)
c.4884C>A (p.Asn1628Lys)
n.2916C>A
c.1375C>A
n.2308C>A
c.5247C>A (p.Asn1749Lys)
c.5244C>A (p.Asn1748Lys)
c.5136C>A (p.Asn1712Lys)
c.5115C>A (p.Asn1705Lys)
c.4461C>A (p.Asn1487Lys)
c.5409C>A (p.Asn1803Lys)
c.5157C>A (p.Asn1719Lys)
c.3903C>A (p.Asn1301Lys)
 ClinVar dbSNP gnomAD v4
16g.2088259C=CA2202031842TSC2c.*3542C= (n.*3542C=)
c.5040C= (p.Asn1680=)
c.5190C= (p.Asn1730=)
c.*5706C= (n.*5706C=)
c.*7942C= (n.*7942C=)
c.5193C= (p.Asn1731=)
c.5124C= (p.Asn1708=)
c.4992C= (p.Asn1664=)
c.5025C= (p.Asn1675=)
c.1416C=
n.3075C=
c.3847C=
c.5052C= (p.Asn1684=)
n.790C=
c.4995C= (p.Asn1665=)
c.5061C= (p.Asn1687=)
c.4986C= (p.Asn1662=)
n.2841C=
c.5118C= (p.Asn1706=)
c.5064C= (p.Asn1688=)
c.5079C= (p.Asn1693=)
c.4989C= (p.Asn1663=)
c.5114C=
n.3277C=
c.5187C= (p.Asn1729=)
n.4008C=
n.2445C=
n.2416C=
n.2306C=
c.4848C= (p.Asn1616=)
c.*4360C= (n.*4360C=)
c.4884C= (p.Asn1628=)
n.2916C=
c.1375C=
n.2308C=
c.5247C= (p.Asn1749=)
c.5244C= (p.Asn1748=)
c.5136C= (p.Asn1712=)
c.5115C= (p.Asn1705=)
c.4461C= (p.Asn1487=)
c.5409C= (p.Asn1803=)
c.5157C= (p.Asn1719=)
c.3903C= (p.Asn1301=)
16g.2088259C>GCA394314180TSC2c.*3542C>G (n.*3542C>G)
c.5040C>G (p.Asn1680Lys)
c.5190C>G (p.Asn1730Lys)
c.*5706C>G (n.*5706C>G)
c.*7942C>G (n.*7942C>G)
c.5193C>G (p.Asn1731Lys)
c.5124C>G (p.Asn1708Lys)
c.4992C>G (p.Asn1664Lys)
c.5025C>G (p.Asn1675Lys)
c.1416C>G
n.3075C>G
c.3847C>G
c.5052C>G (p.Asn1684Lys)
n.790C>G
c.4995C>G (p.Asn1665Lys)
c.5061C>G (p.Asn1687Lys)
c.4986C>G (p.Asn1662Lys)
n.2841C>G
c.5118C>G (p.Asn1706Lys)
c.5064C>G (p.Asn1688Lys)
c.5079C>G (p.Asn1693Lys)
c.4989C>G (p.Asn1663Lys)
c.5114C>G
n.3277C>G
c.5187C>G (p.Asn1729Lys)
n.4008C>G
n.2445C>G
n.2416C>G
n.2306C>G
c.4848C>G (p.Asn1616Lys)
c.*4360C>G (n.*4360C>G)
c.4884C>G (p.Asn1628Lys)
n.2916C>G
c.1375C>G
n.2308C>G
c.5247C>G (p.Asn1749Lys)
c.5244C>G (p.Asn1748Lys)
c.5136C>G (p.Asn1712Lys)
c.5115C>G (p.Asn1705Lys)
c.4461C>G (p.Asn1487Lys)
c.5409C>G (p.Asn1803Lys)
c.5157C>G (p.Asn1719Lys)
c.3903C>G (p.Asn1301Lys)
 dbSNP
16g.2088259C>TCA054368TSC2c.*3542C>T (n.*3542C>T)
c.5040C>T (p.Asn1680=)
c.5190C>T (p.Asn1730=)
c.*5706C>T (n.*5706C>T)
c.*7942C>T (n.*7942C>T)
c.5193C>T (p.Asn1731=)
c.5124C>T (p.Asn1708=)
c.4992C>T (p.Asn1664=)
c.5025C>T (p.Asn1675=)
c.1416C>T
n.3075C>T
c.3847C>T
c.5052C>T (p.Asn1684=)
n.790C>T
c.4995C>T (p.Asn1665=)
c.5061C>T (p.Asn1687=)
c.4986C>T (p.Asn1662=)
n.2841C>T
c.5118C>T (p.Asn1706=)
c.5064C>T (p.Asn1688=)
c.5079C>T (p.Asn1693=)
c.4989C>T (p.Asn1663=)
c.5114C>T
n.3277C>T
c.5187C>T (p.Asn1729=)
n.4008C>T
n.2445C>T
n.2416C>T
n.2306C>T
c.4848C>T (p.Asn1616=)
c.*4360C>T (n.*4360C>T)
c.4884C>T (p.Asn1628=)
n.2916C>T
c.1375C>T
n.2308C>T
c.5247C>T (p.Asn1749=)
c.5244C>T (p.Asn1748=)
c.5136C>T (p.Asn1712=)
c.5115C>T (p.Asn1705=)
c.4461C>T (p.Asn1487=)
c.5409C>T (p.Asn1803=)
c.5157C>T (p.Asn1719=)
c.3903C>T (p.Asn1301=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2088260C>ACA394314187TSC2c.*3543C>A (n.*3543C>A)
c.5041C>A (p.Pro1681Thr)
c.5191C>A (p.Pro1731Thr)
c.*5707C>A (n.*5707C>A)
c.*7943C>A (n.*7943C>A)
c.5194C>A (p.Pro1732Thr)
c.5125C>A (p.Pro1709Thr)
c.4993C>A (p.Pro1665Thr)
c.5026C>A (p.Pro1676Thr)
c.1417C>A
n.3076C>A
c.3848C>A
c.5053C>A (p.Pro1685Thr)
n.791C>A
c.4996C>A (p.Pro1666Thr)
c.5062C>A (p.Pro1688Thr)
c.4987C>A (p.Pro1663Thr)
n.2842C>A
c.5119C>A (p.Pro1707Thr)
c.5065C>A (p.Pro1689Thr)
c.5080C>A (p.Pro1694Thr)
c.4990C>A (p.Pro1664Thr)
c.5115C>A
n.3278C>A
c.5188C>A (p.Pro1730Thr)
n.4009C>A
n.2446C>A
n.2417C>A
n.2307C>A
c.4849C>A (p.Pro1617Thr)
c.*4361C>A (n.*4361C>A)
c.4885C>A (p.Pro1629Thr)
n.2917C>A
c.1376C>A
n.2309C>A
c.5248C>A (p.Pro1750Thr)
c.5245C>A (p.Pro1749Thr)
c.5137C>A (p.Pro1713Thr)
c.5116C>A (p.Pro1706Thr)
c.4462C>A (p.Pro1488Thr)
c.5410C>A (p.Pro1804Thr)
c.5158C>A (p.Pro1720Thr)
c.3904C>A (p.Pro1302Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2088260C=CA2202031855TSC2c.*3543C= (n.*3543C=)
c.5041C= (p.Pro1681=)
c.5191C= (p.Pro1731=)
c.*5707C= (n.*5707C=)
c.*7943C= (n.*7943C=)
c.5194C= (p.Pro1732=)
c.5125C= (p.Pro1709=)
c.4993C= (p.Pro1665=)
c.5026C= (p.Pro1676=)
c.1417C=
n.3076C=
c.3848C=
c.5053C= (p.Pro1685=)
n.791C=
c.4996C= (p.Pro1666=)
c.5062C= (p.Pro1688=)
c.4987C= (p.Pro1663=)
n.2842C=
c.5119C= (p.Pro1707=)
c.5065C= (p.Pro1689=)
c.5080C= (p.Pro1694=)
c.4990C= (p.Pro1664=)
c.5115C=
n.3278C=
c.5188C= (p.Pro1730=)
n.4009C=
n.2446C=
n.2417C=
n.2307C=
c.4849C= (p.Pro1617=)
c.*4361C= (n.*4361C=)
c.4885C= (p.Pro1629=)
n.2917C=
c.1376C=
n.2309C=
c.5248C= (p.Pro1750=)
c.5245C= (p.Pro1749=)
c.5137C= (p.Pro1713=)
c.5116C= (p.Pro1706=)
c.4462C= (p.Pro1488=)
c.5410C= (p.Pro1804=)
c.5158C= (p.Pro1720=)
c.3904C= (p.Pro1302=)
16g.2088260C>GCA394314192TSC2c.*3543C>G (n.*3543C>G)
c.5041C>G (p.Pro1681Ala)
c.5191C>G (p.Pro1731Ala)
c.*5707C>G (n.*5707C>G)
c.*7943C>G (n.*7943C>G)
c.5194C>G (p.Pro1732Ala)
c.5125C>G (p.Pro1709Ala)
c.4993C>G (p.Pro1665Ala)
c.5026C>G (p.Pro1676Ala)
c.1417C>G
n.3076C>G
c.3848C>G
c.5053C>G (p.Pro1685Ala)
n.791C>G
c.4996C>G (p.Pro1666Ala)
c.5062C>G (p.Pro1688Ala)
c.4987C>G (p.Pro1663Ala)
n.2842C>G
c.5119C>G (p.Pro1707Ala)
c.5065C>G (p.Pro1689Ala)
c.5080C>G (p.Pro1694Ala)
c.4990C>G (p.Pro1664Ala)
c.5115C>G
n.3278C>G
c.5188C>G (p.Pro1730Ala)
n.4009C>G
n.2446C>G
n.2417C>G
n.2307C>G
c.4849C>G (p.Pro1617Ala)
c.*4361C>G (n.*4361C>G)
c.4885C>G (p.Pro1629Ala)
n.2917C>G
c.1376C>G
n.2309C>G
c.5248C>G (p.Pro1750Ala)
c.5245C>G (p.Pro1749Ala)
c.5137C>G (p.Pro1713Ala)
c.5116C>G (p.Pro1706Ala)
c.4462C>G (p.Pro1488Ala)
c.5410C>G (p.Pro1804Ala)
c.5158C>G (p.Pro1720Ala)
c.3904C>G (p.Pro1302Ala)
 ClinVar dbSNP
16g.2088260C>TCA054379TSC2c.*3543C>T (n.*3543C>T)
c.5041C>T (p.Pro1681Ser)
c.5191C>T (p.Pro1731Ser)
c.*5707C>T (n.*5707C>T)
c.*7943C>T (n.*7943C>T)
c.5194C>T (p.Pro1732Ser)
c.5125C>T (p.Pro1709Ser)
c.4993C>T (p.Pro1665Ser)
c.5026C>T (p.Pro1676Ser)
c.1417C>T
n.3076C>T
c.3848C>T
c.5053C>T (p.Pro1685Ser)
n.791C>T
c.4996C>T (p.Pro1666Ser)
c.5062C>T (p.Pro1688Ser)
c.4987C>T (p.Pro1663Ser)
n.2842C>T
c.5119C>T (p.Pro1707Ser)
c.5065C>T (p.Pro1689Ser)
c.5080C>T (p.Pro1694Ser)
c.4990C>T (p.Pro1664Ser)
c.5115C>T
n.3278C>T
c.5188C>T (p.Pro1730Ser)
n.4009C>T
n.2446C>T
n.2417C>T
n.2307C>T
c.4849C>T (p.Pro1617Ser)
c.*4361C>T (n.*4361C>T)
c.4885C>T (p.Pro1629Ser)
n.2917C>T
c.1376C>T
n.2309C>T
c.5248C>T (p.Pro1750Ser)
c.5245C>T (p.Pro1749Ser)
c.5137C>T (p.Pro1713Ser)
c.5116C>T (p.Pro1706Ser)
c.4462C>T (p.Pro1488Ser)
c.5410C>T (p.Pro1804Ser)
c.5158C>T (p.Pro1720Ser)
c.3904C>T (p.Pro1302Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2088262_2088265delCA2580091162TSC2c.*3545_*3548del (n.*3545_*3548del)
c.5043_5046del (p.Thr1682IlefsTer?)
c.5193_5196del (p.Thr1732IlefsTer?)
c.*5709_*5712del (n.*5709_*5712del)
c.*7945_*7948del (n.*7945_*7948del)
c.5196_5199del (p.Thr1733IlefsTer?)
c.5127_5130del (p.Thr1710IlefsTer?)
c.4995_4998del (p.Thr1666IlefsTer?)
c.5028_5031del (p.Thr1677IlefsTer?)
c.1419_1422del
n.3078_3081del
c.3850_3853del
c.5055_5058del (p.Thr1686IlefsTer?)
n.793_796del
c.4998_5001del (p.Thr1667IlefsTer?)
c.5064_5067del (p.Thr1689IlefsTer?)
c.4989_4992del (p.Thr1664IlefsTer?)
n.2844_2847del
c.5121_5124del (p.Thr1708IlefsTer?)
c.5067_5070del (p.Thr1690IlefsTer?)
c.5082_5085del (p.Thr1695IlefsTer?)
c.4992_4995del (p.Thr1665IlefsTer?)
c.5117_5120del
n.3280_3283del
c.5190_5193del (p.Thr1731IlefsTer?)
n.4011_4014del
n.2448_2451del
n.2419_2422del
n.2309_2312del
c.4851_4854del (p.Thr1618IlefsTer?)
c.*4363_*4366del (n.*4363_*4366del)
c.4887_4890del (p.Thr1630IlefsTer?)
n.2919_2922del
c.1378_1381del
n.2311_2314del
c.5250_5253del (p.Thr1751IlefsTer?)
c.5247_5250del (p.Thr1750IlefsTer?)
c.5139_5142del (p.Thr1714IlefsTer?)
c.5118_5121del (p.Thr1707IlefsTer?)
c.4464_4467del (p.Thr1489IlefsTer?)
c.5412_5415del (p.Thr1805IlefsTer?)
c.5160_5163del (p.Thr1721IlefsTer?)
c.3906_3909del (p.Thr1303IlefsTer?)
 ClinVar
16g.2088261C>ACA394314211TSC2c.*3544C>A (n.*3544C>A)
c.5042C>A (p.Pro1681His)
c.5192C>A (p.Pro1731His)
c.*5708C>A (n.*5708C>A)
c.*7944C>A (n.*7944C>A)
c.5195C>A (p.Pro1732His)
c.5126C>A (p.Pro1709His)
c.4994C>A (p.Pro1665His)
c.5027C>A (p.Pro1676His)
c.1418C>A
n.3077C>A
c.3849C>A
c.5054C>A (p.Pro1685His)
n.792C>A
c.4997C>A (p.Pro1666His)
c.5063C>A (p.Pro1688His)
c.4988C>A (p.Pro1663His)
n.2843C>A
c.5120C>A (p.Pro1707His)
c.5066C>A (p.Pro1689His)
c.5081C>A (p.Pro1694His)
c.4991C>A (p.Pro1664His)
c.5116C>A
n.3279C>A
c.5189C>A (p.Pro1730His)
n.4010C>A
n.2447C>A
n.2418C>A
n.2308C>A
c.4850C>A (p.Pro1617His)
c.*4362C>A (n.*4362C>A)
c.4886C>A (p.Pro1629His)
n.2918C>A
c.1377C>A
n.2310C>A
c.5249C>A (p.Pro1750His)
c.5246C>A (p.Pro1749His)
c.5138C>A (p.Pro1713His)
c.5117C>A (p.Pro1706His)
c.4463C>A (p.Pro1488His)
c.5411C>A (p.Pro1804His)
c.5159C>A (p.Pro1720His)
c.3905C>A (p.Pro1302His)
 dbSNP
16g.2088261C=CA2202031864TSC2c.*3544C= (n.*3544C=)
c.5042C= (p.Pro1681=)
c.5192C= (p.Pro1731=)
c.*5708C= (n.*5708C=)
c.*7944C= (n.*7944C=)
c.5195C= (p.Pro1732=)
c.5126C= (p.Pro1709=)
c.4994C= (p.Pro1665=)
c.5027C= (p.Pro1676=)
c.1418C=
n.3077C=
c.3849C=
c.5054C= (p.Pro1685=)
n.792C=
c.4997C= (p.Pro1666=)
c.5063C= (p.Pro1688=)
c.4988C= (p.Pro1663=)
n.2843C=
c.5120C= (p.Pro1707=)
c.5066C= (p.Pro1689=)
c.5081C= (p.Pro1694=)
c.4991C= (p.Pro1664=)
c.5116C=
n.3279C=
c.5189C= (p.Pro1730=)
n.4010C=
n.2447C=
n.2418C=
n.2308C=
c.4850C= (p.Pro1617=)
c.*4362C= (n.*4362C=)
c.4886C= (p.Pro1629=)
n.2918C=
c.1377C=
n.2310C=
c.5249C= (p.Pro1750=)
c.5246C= (p.Pro1749=)
c.5138C= (p.Pro1713=)
c.5117C= (p.Pro1706=)
c.4463C= (p.Pro1488=)
c.5411C= (p.Pro1804=)
c.5159C= (p.Pro1720=)
c.3905C= (p.Pro1302=)
16g.2088261C>GCA394314209TSC2c.*3544C>G (n.*3544C>G)
c.5042C>G (p.Pro1681Arg)
c.5192C>G (p.Pro1731Arg)
c.*5708C>G (n.*5708C>G)
c.*7944C>G (n.*7944C>G)
c.5195C>G (p.Pro1732Arg)
c.5126C>G (p.Pro1709Arg)
c.4994C>G (p.Pro1665Arg)
c.5027C>G (p.Pro1676Arg)
c.1418C>G
n.3077C>G
c.3849C>G
c.5054C>G (p.Pro1685Arg)
n.792C>G
c.4997C>G (p.Pro1666Arg)
c.5063C>G (p.Pro1688Arg)
c.4988C>G (p.Pro1663Arg)
n.2843C>G
c.5120C>G (p.Pro1707Arg)
c.5066C>G (p.Pro1689Arg)
c.5081C>G (p.Pro1694Arg)
c.4991C>G (p.Pro1664Arg)
c.5116C>G
n.3279C>G
c.5189C>G (p.Pro1730Arg)
n.4010C>G
n.2447C>G
n.2418C>G
n.2308C>G
c.4850C>G (p.Pro1617Arg)
c.*4362C>G (n.*4362C>G)
c.4886C>G (p.Pro1629Arg)
n.2918C>G
c.1377C>G
n.2310C>G
c.5249C>G (p.Pro1750Arg)
c.5246C>G (p.Pro1749Arg)
c.5138C>G (p.Pro1713Arg)
c.5117C>G (p.Pro1706Arg)
c.4463C>G (p.Pro1488Arg)
c.5411C>G (p.Pro1804Arg)
c.5159C>G (p.Pro1720Arg)
c.3905C>G (p.Pro1302Arg)
 ClinVar dbSNP
16g.2088261C>TCA394314204TSC2c.*3544C>T (n.*3544C>T)
c.5042C>T (p.Pro1681Leu)
c.5192C>T (p.Pro1731Leu)
c.*5708C>T (n.*5708C>T)
c.*7944C>T (n.*7944C>T)
c.5195C>T (p.Pro1732Leu)
c.5126C>T (p.Pro1709Leu)
c.4994C>T (p.Pro1665Leu)
c.5027C>T (p.Pro1676Leu)
c.1418C>T
n.3077C>T
c.3849C>T
c.5054C>T (p.Pro1685Leu)
n.792C>T
c.4997C>T (p.Pro1666Leu)
c.5063C>T (p.Pro1688Leu)
c.4988C>T (p.Pro1663Leu)
n.2843C>T
c.5120C>T (p.Pro1707Leu)
c.5066C>T (p.Pro1689Leu)
c.5081C>T (p.Pro1694Leu)
c.4991C>T (p.Pro1664Leu)
c.5116C>T
n.3279C>T
c.5189C>T (p.Pro1730Leu)
n.4010C>T
n.2447C>T
n.2418C>T
n.2308C>T
c.4850C>T (p.Pro1617Leu)
c.*4362C>T (n.*4362C>T)
c.4886C>T (p.Pro1629Leu)
n.2918C>T
c.1377C>T
n.2310C>T
c.5249C>T (p.Pro1750Leu)
c.5246C>T (p.Pro1749Leu)
c.5138C>T (p.Pro1713Leu)
c.5117C>T (p.Pro1706Leu)
c.4463C>T (p.Pro1488Leu)
c.5411C>T (p.Pro1804Leu)
c.5159C>T (p.Pro1720Leu)
c.3905C>T (p.Pro1302Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2088263_2088265delCA2575877453TSC2c.*3546_*3548del (n.*3546_*3548del)
c.5044_5046del (p.Thr1682del)
c.5194_5196del (p.Thr1732del)
c.*5710_*5712del (n.*5710_*5712del)
c.*7946_*7948del (n.*7946_*7948del)
c.5197_5199del (p.Thr1733del)
c.5128_5130del (p.Thr1710del)
c.4996_4998del (p.Thr1666del)
c.5029_5031del (p.Thr1677del)
c.1420_1422del
n.3079_3081del
c.3851_3853del
c.5056_5058del (p.Thr1686del)
n.794_796del
c.4999_5001del (p.Thr1667del)
c.5065_5067del (p.Thr1689del)
c.4990_4992del (p.Thr1664del)
n.2845_2847del
c.5122_5124del (p.Thr1708del)
c.5068_5070del (p.Thr1690del)
c.5083_5085del (p.Thr1695del)
c.4993_4995del (p.Thr1665del)
c.5118_5120del
n.3281_3283del
c.5191_5193del (p.Thr1731del)
n.4012_4014del
n.2449_2451del
n.2420_2422del
n.2310_2312del
c.4852_4854del (p.Thr1618del)
c.*4364_*4366del (n.*4364_*4366del)
c.4888_4890del (p.Thr1630del)
n.2920_2922del
c.1379_1381del
n.2312_2314del
c.5251_5253del (p.Thr1751del)
c.5248_5250del (p.Thr1750del)
c.5140_5142del (p.Thr1714del)
c.5119_5121del (p.Thr1707del)
c.4465_4467del (p.Thr1489del)
c.5413_5415del (p.Thr1805del)
c.5161_5163del (p.Thr1721del)
c.3907_3909del (p.Thr1303del)
16g.2088261_2088262insTGCACA022105TSC2c.*3544_*3545insTGCA (n.*3544_*3545insTGCA)
c.5042_5043insTGCA (p.Thr1682AlafsTer?)
c.5192_5193insTGCA (p.Thr1732AlafsTer?)
c.*5708_*5709insTGCA (n.*5708_*5709insTGCA)
c.*7944_*7945insTGCA (n.*7944_*7945insTGCA)
c.5195_5196insTGCA (p.Thr1733AlafsTer?)
c.5126_5127insTGCA (p.Thr1710AlafsTer?)
c.4994_4995insTGCA (p.Thr1666AlafsTer?)
c.5027_5028insTGCA (p.Thr1677AlafsTer?)
c.1418_1419insTGCA
n.3077_3078insTGCA
c.3849_3850insTGCA
c.5054_5055insTGCA (p.Thr1686AlafsTer?)
n.792_793insTGCA
c.4997_4998insTGCA (p.Thr1667AlafsTer?)
c.5063_5064insTGCA (p.Thr1689AlafsTer?)
c.4988_4989insTGCA (p.Thr1664AlafsTer?)
n.2843_2844insTGCA
c.5120_5121insTGCA (p.Thr1708AlafsTer?)
c.5066_5067insTGCA (p.Thr1690AlafsTer?)
c.5081_5082insTGCA (p.Thr1695AlafsTer?)
c.4991_4992insTGCA (p.Thr1665AlafsTer?)
c.5116_5117insTGCA
n.3279_3280insTGCA
c.5189_5190insTGCA (p.Thr1731AlafsTer?)
n.4010_4011insTGCA
n.2447_2448insTGCA
n.2418_2419insTGCA
n.2308_2309insTGCA
c.4850_4851insTGCA (p.Thr1618AlafsTer?)
c.*4362_*4363insTGCA (n.*4362_*4363insTGCA)
c.4886_4887insTGCA (p.Thr1630AlafsTer?)
n.2918_2919insTGCA
c.1377_1378insTGCA
n.2310_2311insTGCA
c.5249_5250insTGCA (p.Thr1751AlafsTer?)
c.5246_5247insTGCA (p.Thr1750AlafsTer?)
c.5138_5139insTGCA (p.Thr1714AlafsTer?)
c.5117_5118insTGCA (p.Thr1707AlafsTer?)
c.4463_4464insTGCA (p.Thr1489AlafsTer?)
c.5411_5412insTGCA (p.Thr1805AlafsTer?)
c.5159_5160insTGCA (p.Thr1721AlafsTer?)
c.3905_3906insTGCA (p.Thr1303AlafsTer?)
 ClinVar dbSNP
16g.2088262C>ACA493043764TSC2c.*3545C>A (n.*3545C>A)
c.5043C>A (p.Pro1681=)
c.5193C>A (p.Pro1731=)
c.*5709C>A (n.*5709C>A)
c.*7945C>A (n.*7945C>A)
c.5196C>A (p.Pro1732=)
c.5127C>A (p.Pro1709=)
c.4995C>A (p.Pro1665=)
c.5028C>A (p.Pro1676=)
c.1419C>A
n.3078C>A
c.3850C>A
c.5055C>A (p.Pro1685=)
n.793C>A
c.4998C>A (p.Pro1666=)
c.5064C>A (p.Pro1688=)
c.4989C>A (p.Pro1663=)
n.2844C>A
c.5121C>A (p.Pro1707=)
c.5067C>A (p.Pro1689=)
c.5082C>A (p.Pro1694=)
c.4992C>A (p.Pro1664=)
c.5117C>A
n.3280C>A
c.5190C>A (p.Pro1730=)
n.4011C>A
n.2448C>A
n.2419C>A
n.2309C>A
c.4851C>A (p.Pro1617=)
c.*4363C>A (n.*4363C>A)
c.4887C>A (p.Pro1629=)
n.2919C>A
c.1378C>A
n.2311C>A
c.5250C>A (p.Pro1750=)
c.5247C>A (p.Pro1749=)
c.5139C>A (p.Pro1713=)
c.5118C>A (p.Pro1706=)
c.4464C>A (p.Pro1488=)
c.5412C>A (p.Pro1804=)
c.5160C>A (p.Pro1720=)
c.3906C>A (p.Pro1302=)
 dbSNP
16g.2088262C=CA2202031881TSC2c.*3545C= (n.*3545C=)
c.5043C= (p.Pro1681=)
c.5193C= (p.Pro1731=)
c.*5709C= (n.*5709C=)
c.*7945C= (n.*7945C=)
c.5196C= (p.Pro1732=)
c.5127C= (p.Pro1709=)
c.4995C= (p.Pro1665=)
c.5028C= (p.Pro1676=)
c.1419C=
n.3078C=
c.3850C=
c.5055C= (p.Pro1685=)
n.793C=
c.4998C= (p.Pro1666=)
c.5064C= (p.Pro1688=)
c.4989C= (p.Pro1663=)
n.2844C=
c.5121C= (p.Pro1707=)
c.5067C= (p.Pro1689=)
c.5082C= (p.Pro1694=)
c.4992C= (p.Pro1664=)
c.5117C=
n.3280C=
c.5190C= (p.Pro1730=)
n.4011C=
n.2448C=
n.2419C=
n.2309C=
c.4851C= (p.Pro1617=)
c.*4363C= (n.*4363C=)
c.4887C= (p.Pro1629=)
n.2919C=
c.1378C=
n.2311C=
c.5250C= (p.Pro1750=)
c.5247C= (p.Pro1749=)
c.5139C= (p.Pro1713=)
c.5118C= (p.Pro1706=)
c.4464C= (p.Pro1488=)
c.5412C= (p.Pro1804=)
c.5160C= (p.Pro1720=)
c.3906C= (p.Pro1302=)
16g.2088262C>GCA493043768TSC2c.*3545C>G (n.*3545C>G)
c.5043C>G (p.Pro1681=)
c.5193C>G (p.Pro1731=)
c.*5709C>G (n.*5709C>G)
c.*7945C>G (n.*7945C>G)
c.5196C>G (p.Pro1732=)
c.5127C>G (p.Pro1709=)
c.4995C>G (p.Pro1665=)
c.5028C>G (p.Pro1676=)
c.1419C>G
n.3078C>G
c.3850C>G
c.5055C>G (p.Pro1685=)
n.793C>G
c.4998C>G (p.Pro1666=)
c.5064C>G (p.Pro1688=)
c.4989C>G (p.Pro1663=)
n.2844C>G
c.5121C>G (p.Pro1707=)
c.5067C>G (p.Pro1689=)
c.5082C>G (p.Pro1694=)
c.4992C>G (p.Pro1664=)
c.5117C>G
n.3280C>G
c.5190C>G (p.Pro1730=)
n.4011C>G
n.2448C>G
n.2419C>G
n.2309C>G
c.4851C>G (p.Pro1617=)
c.*4363C>G (n.*4363C>G)
c.4887C>G (p.Pro1629=)
n.2919C>G
c.1378C>G
n.2311C>G
c.5250C>G (p.Pro1750=)
c.5247C>G (p.Pro1749=)
c.5139C>G (p.Pro1713=)
c.5118C>G (p.Pro1706=)
c.4464C>G (p.Pro1488=)
c.5412C>G (p.Pro1804=)
c.5160C>G (p.Pro1720=)
c.3906C>G (p.Pro1302=)
 dbSNP
16g.2088262C>TCA276759343TSC2c.*3545C>T (n.*3545C>T)
c.5043C>T (p.Pro1681=)
c.5193C>T (p.Pro1731=)
c.*5709C>T (n.*5709C>T)
c.*7945C>T (n.*7945C>T)
c.5196C>T (p.Pro1732=)
c.5127C>T (p.Pro1709=)
c.4995C>T (p.Pro1665=)
c.5028C>T (p.Pro1676=)
c.1419C>T
n.3078C>T
c.3850C>T
c.5055C>T (p.Pro1685=)
n.793C>T
c.4998C>T (p.Pro1666=)
c.5064C>T (p.Pro1688=)
c.4989C>T (p.Pro1663=)
n.2844C>T
c.5121C>T (p.Pro1707=)
c.5067C>T (p.Pro1689=)
c.5082C>T (p.Pro1694=)
c.4992C>T (p.Pro1664=)
c.5117C>T
n.3280C>T
c.5190C>T (p.Pro1730=)
n.4011C>T
n.2448C>T
n.2419C>T
n.2309C>T
c.4851C>T (p.Pro1617=)
c.*4363C>T (n.*4363C>T)
c.4887C>T (p.Pro1629=)
n.2919C>T
c.1378C>T
n.2311C>T
c.5250C>T (p.Pro1750=)
c.5247C>T (p.Pro1749=)
c.5139C>T (p.Pro1713=)
c.5118C>T (p.Pro1706=)
c.4464C>T (p.Pro1488=)
c.5412C>T (p.Pro1804=)
c.5160C>T (p.Pro1720=)
c.3906C>T (p.Pro1302=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.2088262_2088268delinsCACCGATCA2202031884TSC2c.*3545_*3551delinsCACCGAT (n.*3545_*3551delinsCACCGAT)
c.5043_5049delinsCACCGAT (p.Pro1681=)
c.5193_5199delinsCACCGAT (p.Pro1731=)
c.*5709_*5715delinsCACCGAT (n.*5709_*5715delinsCACCGAT)
c.*7945_*7951delinsCACCGAT (n.*7945_*7951delinsCACCGAT)
c.5196_5202delinsCACCGAT (p.Pro1732=)
c.5127_5133delinsCACCGAT (p.Pro1709=)
c.4995_5001delinsCACCGAT (p.Pro1665=)
c.5028_5034delinsCACCGAT (p.Pro1676=)
c.1419_1425delinsCACCGAT
n.3078_3084delinsCACCGAT
c.3850_3856delinsCACCGAT
c.5055_5061delinsCACCGAT (p.Pro1685=)
n.793_799delinsCACCGAT
c.4998_5004delinsCACCGAT (p.Pro1666=)
c.5064_5070delinsCACCGAT (p.Pro1688=)
c.4989_4995delinsCACCGAT (p.Pro1663=)
n.2844_2850delinsCACCGAT
c.5121_5127delinsCACCGAT (p.Pro1707=)
c.5067_5073delinsCACCGAT (p.Pro1689=)
c.5082_5088delinsCACCGAT (p.Pro1694=)
c.4992_4998delinsCACCGAT (p.Pro1664=)
c.5117_5123delinsCACCGAT
n.3280_3286delinsCACCGAT
c.5190_5196delinsCACCGAT (p.Pro1730=)
n.4011_4017delinsCACCGAT
n.2448_2454delinsCACCGAT
n.2419_2425delinsCACCGAT
n.2309_2315delinsCACCGAT
c.4851_4857delinsCACCGAT (p.Pro1617=)
c.*4363_*4369delinsCACCGAT (n.*4363_*4369delinsCACCGAT)
c.4887_4893delinsCACCGAT (p.Pro1629=)
n.2919_2925delinsCACCGAT
c.1378_1384delinsCACCGAT
n.2311_2317delinsCACCGAT
c.5250_5256delinsCACCGAT (p.Pro1750=)
c.5247_5253delinsCACCGAT (p.Pro1749=)
c.5139_5145delinsCACCGAT (p.Pro1713=)
c.5118_5124delinsCACCGAT (p.Pro1706=)
c.4464_4470delinsCACCGAT (p.Pro1488=)
c.5412_5418delinsCACCGAT (p.Pro1804=)
c.5160_5166delinsCACCGAT (p.Pro1720=)
c.3906_3912delinsCACCGAT (p.Pro1302=)
16g.2088262_2088278delinsCACCGATATCTACCCCTCA2202031879TSC2c.*3545_*3561delinsCACCGATATCTACCCCT (n.*3545_*3561delinsCACCGATATCTACCCCT)
c.5043_5059delinsCACCGATATCTACCCCT (p.Pro1681=)
c.5193_5209delinsCACCGATATCTACCCCT (p.Pro1731=)
c.*5709_*5725delinsCACCGATATCTACCCCT (n.*5709_*5725delinsCACCGATATCTACCCCT)
c.*7945_*7961delinsCACCGATATCTACCCCT (n.*7945_*7961delinsCACCGATATCTACCCCT)
c.5196_5212delinsCACCGATATCTACCCCT (p.Pro1732=)
c.5127_5143delinsCACCGATATCTACCCCT (p.Pro1709=)
c.4995_5011delinsCACCGATATCTACCCCT (p.Pro1665=)
c.5028_5044delinsCACCGATATCTACCCCT (p.Pro1676=)
c.1419_1435delinsCACCGATATCTACCCCT
n.3078_3094delinsCACCGATATCTACCCCT
c.3850_3866delinsCACCGATATCTACCCCT
c.5055_5071delinsCACCGATATCTACCCCT (p.Pro1685=)
n.793_809delinsCACCGATATCTACCCCT
c.4998_5014delinsCACCGATATCTACCCCT (p.Pro1666=)
c.5064_5080delinsCACCGATATCTACCCCT (p.Pro1688=)
c.4989_5005delinsCACCGATATCTACCCCT (p.Pro1663=)
n.2844_2860delinsCACCGATATCTACCCCT
c.5121_5137delinsCACCGATATCTACCCCT (p.Pro1707=)
c.5067_5083delinsCACCGATATCTACCCCT (p.Pro1689=)
c.5082_5098delinsCACCGATATCTACCCCT (p.Pro1694=)
c.4992_5008delinsCACCGATATCTACCCCT (p.Pro1664=)
c.5117_5133delinsCACCGATATCTACCCCT
n.3280_3296delinsCACCGATATCTACCCCT
c.5190_5206delinsCACCGATATCTACCCCT (p.Pro1730=)
n.4011_4027delinsCACCGATATCTACCCCT
n.2448_2464delinsCACCGATATCTACCCCT
n.2419_2435delinsCACCGATATCTACCCCT
n.2309_2325delinsCACCGATATCTACCCCT
c.4851_4867delinsCACCGATATCTACCCCT (p.Pro1617=)
c.*4363_*4379delinsCACCGATATCTACCCCT (n.*4363_*4379delinsCACCGATATCTACCCCT)
c.4887_4903delinsCACCGATATCTACCCCT (p.Pro1629=)
n.2919_2935delinsCACCGATATCTACCCCT
c.1378_1394delinsCACCGATATCTACCCCT
n.2311_2327delinsCACCGATATCTACCCCT
c.5250_5266delinsCACCGATATCTACCCCT (p.Pro1750=)
c.5247_5263delinsCACCGATATCTACCCCT (p.Pro1749=)
c.5139_5155delinsCACCGATATCTACCCCT (p.Pro1713=)
c.5118_5134delinsCACCGATATCTACCCCT (p.Pro1706=)
c.4464_4480delinsCACCGATATCTACCCCT (p.Pro1488=)
c.5412_5428delinsCACCGATATCTACCCCT (p.Pro1804=)
c.5160_5176delinsCACCGATATCTACCCCT (p.Pro1720=)
c.3906_3922delinsCACCGATATCTACCCCT (p.Pro1302=)
16g.2088263A=CA2202031901TSC2c.*3546A= (n.*3546A=)
c.5044A= (p.Thr1682=)
c.5194A= (p.Thr1732=)
c.*5710A= (n.*5710A=)
c.*7946A= (n.*7946A=)
c.5197A= (p.Thr1733=)
c.5128A= (p.Thr1710=)
c.4996A= (p.Thr1666=)
c.5029A= (p.Thr1677=)
c.1420A=
n.3079A=
c.3851A=
c.5056A= (p.Thr1686=)
n.794A=
c.4999A= (p.Thr1667=)
c.5065A= (p.Thr1689=)
c.4990A= (p.Thr1664=)
n.2845A=
c.5122A= (p.Thr1708=)
c.5068A= (p.Thr1690=)
c.5083A= (p.Thr1695=)
c.4993A= (p.Thr1665=)
c.5118A=
n.3281A=
c.5191A= (p.Thr1731=)
n.4012A=
n.2449A=
n.2420A=
n.2310A=
c.4852A= (p.Thr1618=)
c.*4364A= (n.*4364A=)
c.4888A= (p.Thr1630=)
n.2920A=
c.1379A=
n.2312A=
c.5251A= (p.Thr1751=)
c.5248A= (p.Thr1750=)
c.5140A= (p.Thr1714=)
c.5119A= (p.Thr1707=)
c.4465A= (p.Thr1489=)
c.5413A= (p.Thr1805=)
c.5161A= (p.Thr1721=)
c.3907A= (p.Thr1303=)
16g.2088263A>CCA394314222TSC2c.*3546A>C (n.*3546A>C)
c.5044A>C (p.Thr1682Pro)
c.5194A>C (p.Thr1732Pro)
c.*5710A>C (n.*5710A>C)
c.*7946A>C (n.*7946A>C)
c.5197A>C (p.Thr1733Pro)
c.5128A>C (p.Thr1710Pro)
c.4996A>C (p.Thr1666Pro)
c.5029A>C (p.Thr1677Pro)
c.1420A>C
n.3079A>C
c.3851A>C
c.5056A>C (p.Thr1686Pro)
n.794A>C
c.4999A>C (p.Thr1667Pro)
c.5065A>C (p.Thr1689Pro)
c.4990A>C (p.Thr1664Pro)
n.2845A>C
c.5122A>C (p.Thr1708Pro)
c.5068A>C (p.Thr1690Pro)
c.5083A>C (p.Thr1695Pro)
c.4993A>C (p.Thr1665Pro)
c.5118A>C
n.3281A>C
c.5191A>C (p.Thr1731Pro)
n.4012A>C
n.2449A>C
n.2420A>C
n.2310A>C
c.4852A>C (p.Thr1618Pro)
c.*4364A>C (n.*4364A>C)
c.4888A>C (p.Thr1630Pro)
n.2920A>C
c.1379A>C
n.2312A>C
c.5251A>C (p.Thr1751Pro)
c.5248A>C (p.Thr1750Pro)
c.5140A>C (p.Thr1714Pro)
c.5119A>C (p.Thr1707Pro)
c.4465A>C (p.Thr1489Pro)
c.5413A>C (p.Thr1805Pro)
c.5161A>C (p.Thr1721Pro)
c.3907A>C (p.Thr1303Pro)
 ClinVar dbSNP
16g.2088263A>GCA394314229TSC2c.*3546A>G (n.*3546A>G)
c.5044A>G (p.Thr1682Ala)
c.5194A>G (p.Thr1732Ala)
c.*5710A>G (n.*5710A>G)
c.*7946A>G (n.*7946A>G)
c.5197A>G (p.Thr1733Ala)
c.5128A>G (p.Thr1710Ala)
c.4996A>G (p.Thr1666Ala)
c.5029A>G (p.Thr1677Ala)
c.1420A>G
n.3079A>G
c.3851A>G
c.5056A>G (p.Thr1686Ala)
n.794A>G
c.4999A>G (p.Thr1667Ala)
c.5065A>G (p.Thr1689Ala)
c.4990A>G (p.Thr1664Ala)
n.2845A>G
c.5122A>G (p.Thr1708Ala)
c.5068A>G (p.Thr1690Ala)
c.5083A>G (p.Thr1695Ala)
c.4993A>G (p.Thr1665Ala)
c.5118A>G
n.3281A>G
c.5191A>G (p.Thr1731Ala)
n.4012A>G
n.2449A>G
n.2420A>G
n.2310A>G
c.4852A>G (p.Thr1618Ala)
c.*4364A>G (n.*4364A>G)
c.4888A>G (p.Thr1630Ala)
n.2920A>G
c.1379A>G
n.2312A>G
c.5251A>G (p.Thr1751Ala)
c.5248A>G (p.Thr1750Ala)
c.5140A>G (p.Thr1714Ala)
c.5119A>G (p.Thr1707Ala)
c.4465A>G (p.Thr1489Ala)
c.5413A>G (p.Thr1805Ala)
c.5161A>G (p.Thr1721Ala)
c.3907A>G (p.Thr1303Ala)
 ClinVar dbSNP gnomAD v4
16g.2088263A>TCA394314230TSC2c.*3546A>T (n.*3546A>T)
c.5044A>T (p.Thr1682Ser)
c.5194A>T (p.Thr1732Ser)
c.*5710A>T (n.*5710A>T)
c.*7946A>T (n.*7946A>T)
c.5197A>T (p.Thr1733Ser)
c.5128A>T (p.Thr1710Ser)
c.4996A>T (p.Thr1666Ser)
c.5029A>T (p.Thr1677Ser)
c.1420A>T
n.3079A>T
c.3851A>T
c.5056A>T (p.Thr1686Ser)
n.794A>T
c.4999A>T (p.Thr1667Ser)
c.5065A>T (p.Thr1689Ser)
c.4990A>T (p.Thr1664Ser)
n.2845A>T
c.5122A>T (p.Thr1708Ser)
c.5068A>T (p.Thr1690Ser)
c.5083A>T (p.Thr1695Ser)
c.4993A>T (p.Thr1665Ser)
c.5118A>T
n.3281A>T
c.5191A>T (p.Thr1731Ser)
n.4012A>T
n.2449A>T
n.2420A>T
n.2310A>T
c.4852A>T (p.Thr1618Ser)
c.*4364A>T (n.*4364A>T)
c.4888A>T (p.Thr1630Ser)
n.2920A>T
c.1379A>T
n.2312A>T
c.5251A>T (p.Thr1751Ser)
c.5248A>T (p.Thr1750Ser)
c.5140A>T (p.Thr1714Ser)
c.5119A>T (p.Thr1707Ser)
c.4465A>T (p.Thr1489Ser)
c.5413A>T (p.Thr1805Ser)
c.5161A>T (p.Thr1721Ser)
c.3907A>T (p.Thr1303Ser)
 dbSNP
16g.2088263dupCA022111TSC2c.*3546dup (n.*3546dup)
c.5044dup (p.Thr1682AsnfsTer?)
c.5194dup (p.Thr1732AsnfsTer?)
c.*5710dup (n.*5710dup)
c.*7946dup (n.*7946dup)
c.5197dup (p.Thr1733AsnfsTer?)
c.5128dup (p.Thr1710AsnfsTer?)
c.4996dup (p.Thr1666AsnfsTer?)
c.5029dup (p.Thr1677AsnfsTer?)
c.1420dup
n.3079dup
c.3851dup
c.5056dup (p.Thr1686AsnfsTer?)
n.794dup
c.4999dup (p.Thr1667AsnfsTer?)
c.5065dup (p.Thr1689AsnfsTer?)
c.4990dup (p.Thr1664AsnfsTer?)
n.2845dup
c.5122dup (p.Thr1708AsnfsTer?)
c.5068dup (p.Thr1690AsnfsTer?)
c.5083dup (p.Thr1695AsnfsTer?)
c.4993dup (p.Thr1665AsnfsTer?)
c.5118dup
n.3281dup
c.5191dup (p.Thr1731AsnfsTer?)
n.4012dup
n.2449dup
n.2420dup
n.2310dup
c.4852dup (p.Thr1618AsnfsTer?)
c.*4364dup (n.*4364dup)
c.4888dup (p.Thr1630AsnfsTer?)
n.2920dup
c.1379dup
n.2312dup
c.5251dup (p.Thr1751AsnfsTer?)
c.5248dup (p.Thr1750AsnfsTer?)
c.5140dup (p.Thr1714AsnfsTer?)
c.5119dup (p.Thr1707AsnfsTer?)
c.4465dup (p.Thr1489AsnfsTer?)
c.5413dup (p.Thr1805AsnfsTer?)
c.5161dup (p.Thr1721AsnfsTer?)
c.3907dup (p.Thr1303AsnfsTer?)
 ClinVar dbSNP
16g.2088263_2088268delinsGACCA16615195TSC2c.*3546_*3551delinsGAC (n.*3546_*3551delinsGAC)
c.5044_5049delinsGAC (p.Thr1682del)
c.5194_5199delinsGAC (p.Thr1732del)
c.*5710_*5715delinsGAC (n.*5710_*5715delinsGAC)
c.*7946_*7951delinsGAC (n.*7946_*7951delinsGAC)
c.5197_5202delinsGAC (p.Thr1733del)
c.5128_5133delinsGAC (p.Thr1710del)
c.4996_5001delinsGAC (p.Thr1666del)
c.5029_5034delinsGAC (p.Thr1677del)
c.1420_1425delinsGAC
n.3079_3084delinsGAC
c.3851_3856delinsGAC
c.5056_5061delinsGAC (p.Thr1686del)
n.794_799delinsGAC
c.4999_5004delinsGAC (p.Thr1667del)
c.5065_5070delinsGAC (p.Thr1689del)
c.4990_4995delinsGAC (p.Thr1664del)
n.2845_2850delinsGAC
c.5122_5127delinsGAC (p.Thr1708del)
c.5068_5073delinsGAC (p.Thr1690del)
c.5083_5088delinsGAC (p.Thr1695del)
c.4993_4998delinsGAC (p.Thr1665del)
c.5118_5123delinsGAC
n.3281_3286delinsGAC
c.5191_5196delinsGAC (p.Thr1731del)
n.4012_4017delinsGAC
n.2449_2454delinsGAC
n.2420_2425delinsGAC
n.2310_2315delinsGAC
c.4852_4857delinsGAC (p.Thr1618del)
c.*4364_*4369delinsGAC (n.*4364_*4369delinsGAC)
c.4888_4893delinsGAC (p.Thr1630del)
n.2920_2925delinsGAC
c.1379_1384delinsGAC
n.2312_2317delinsGAC
c.5251_5256delinsGAC (p.Thr1751del)
c.5248_5253delinsGAC (p.Thr1750del)
c.5140_5145delinsGAC (p.Thr1714del)
c.5119_5124delinsGAC (p.Thr1707del)
c.4465_4470delinsGAC (p.Thr1489del)
c.5413_5418delinsGAC (p.Thr1805del)
c.5161_5166delinsGAC (p.Thr1721del)
c.3907_3912delinsGAC (p.Thr1303del)
 ClinVar dbSNP
16g.2088263_2088278delCA022116TSC2c.*3546_*3561del (n.*3546_*3561del)
c.5044_5059del (p.Thr1682ProfsTer?)
c.5194_5209del (p.Thr1732ProfsTer?)
c.*5710_*5725del (n.*5710_*5725del)
c.*7946_*7961del (n.*7946_*7961del)
c.5197_5212del (p.Thr1733ProfsTer?)
c.5128_5143del (p.Thr1710ProfsTer?)
c.4996_5011del (p.Thr1666ProfsTer?)
c.5029_5044del (p.Thr1677ProfsTer?)
c.1420_1435del
n.3079_3094del
c.3851_3866del
c.5056_5071del (p.Thr1686ProfsTer?)
n.794_809del
c.4999_5014del (p.Thr1667ProfsTer?)
c.5065_5080del (p.Thr1689ProfsTer?)
c.4990_5005del (p.Thr1664ProfsTer?)
n.2845_2860del
c.5122_5137del (p.Thr1708ProfsTer?)
c.5068_5083del (p.Thr1690ProfsTer?)
c.5083_5098del (p.Thr1695ProfsTer?)
c.4993_5008del (p.Thr1665ProfsTer?)
c.5118_5133del
n.3281_3296del
c.5191_5206del (p.Thr1731ProfsTer?)
n.4012_4027del
n.2449_2464del
n.2420_2435del
n.2310_2325del
c.4852_4867del (p.Thr1618ProfsTer?)
c.*4364_*4379del (n.*4364_*4379del)
c.4888_4903del (p.Thr1630ProfsTer?)
n.2920_2935del
c.1379_1394del
n.2312_2327del
c.5251_5266del (p.Thr1751ProfsTer?)
c.5248_5263del (p.Thr1750ProfsTer?)
c.5140_5155del (p.Thr1714ProfsTer?)
c.5119_5134del (p.Thr1707ProfsTer?)
c.4465_4480del (p.Thr1489ProfsTer?)
c.5413_5428del (p.Thr1805ProfsTer?)
c.5161_5176del (p.Thr1721ProfsTer?)
c.3907_3922del (p.Thr1303ProfsTer?)
 ClinVar dbSNP
16g.2088264C>ACA394314234TSC2c.*3547C>A (n.*3547C>A)
c.5045C>A (p.Thr1682Asn)
c.5195C>A (p.Thr1732Asn)
c.*5711C>A (n.*5711C>A)
c.*7947C>A (n.*7947C>A)
c.5198C>A (p.Thr1733Asn)
c.5129C>A (p.Thr1710Asn)
c.4997C>A (p.Thr1666Asn)
c.5030C>A (p.Thr1677Asn)
c.1421C>A
n.3080C>A
c.3852C>A
c.5057C>A (p.Thr1686Asn)
n.795C>A
c.5000C>A (p.Thr1667Asn)
c.5066C>A (p.Thr1689Asn)
c.4991C>A (p.Thr1664Asn)
n.2846C>A
c.5123C>A (p.Thr1708Asn)
c.5069C>A (p.Thr1690Asn)
c.5084C>A (p.Thr1695Asn)
c.4994C>A (p.Thr1665Asn)
c.5119C>A
n.3282C>A
c.5192C>A (p.Thr1731Asn)
n.4013C>A
n.2450C>A
n.2421C>A
n.2311C>A
c.4853C>A (p.Thr1618Asn)
c.*4365C>A (n.*4365C>A)
c.4889C>A (p.Thr1630Asn)
n.2921C>A
c.1380C>A
n.2313C>A
c.5252C>A (p.Thr1751Asn)
c.5249C>A (p.Thr1750Asn)
c.5141C>A (p.Thr1714Asn)
c.5120C>A (p.Thr1707Asn)
c.4466C>A (p.Thr1489Asn)
c.5414C>A (p.Thr1805Asn)
c.5162C>A (p.Thr1721Asn)
c.3908C>A (p.Thr1303Asn)
 dbSNP
16g.2088264C=CA2202031914TSC2c.*3547C= (n.*3547C=)
c.5045C= (p.Thr1682=)
c.5195C= (p.Thr1732=)
c.*5711C= (n.*5711C=)
c.*7947C= (n.*7947C=)
c.5198C= (p.Thr1733=)
c.5129C= (p.Thr1710=)
c.4997C= (p.Thr1666=)
c.5030C= (p.Thr1677=)
c.1421C=
n.3080C=
c.3852C=
c.5057C= (p.Thr1686=)
n.795C=
c.5000C= (p.Thr1667=)
c.5066C= (p.Thr1689=)
c.4991C= (p.Thr1664=)
n.2846C=
c.5123C= (p.Thr1708=)
c.5069C= (p.Thr1690=)
c.5084C= (p.Thr1695=)
c.4994C= (p.Thr1665=)
c.5119C=
n.3282C=
c.5192C= (p.Thr1731=)
n.4013C=
n.2450C=
n.2421C=
n.2311C=
c.4853C= (p.Thr1618=)
c.*4365C= (n.*4365C=)
c.4889C= (p.Thr1630=)
n.2921C=
c.1380C=
n.2313C=
c.5252C= (p.Thr1751=)
c.5249C= (p.Thr1750=)
c.5141C= (p.Thr1714=)
c.5120C= (p.Thr1707=)
c.4466C= (p.Thr1489=)
c.5414C= (p.Thr1805=)
c.5162C= (p.Thr1721=)
c.3908C= (p.Thr1303=)
16g.2088264C>GCA394314244TSC2c.*3547C>G (n.*3547C>G)
c.5045C>G (p.Thr1682Ser)
c.5195C>G (p.Thr1732Ser)
c.*5711C>G (n.*5711C>G)
c.*7947C>G (n.*7947C>G)
c.5198C>G (p.Thr1733Ser)
c.5129C>G (p.Thr1710Ser)
c.4997C>G (p.Thr1666Ser)
c.5030C>G (p.Thr1677Ser)
c.1421C>G
n.3080C>G
c.3852C>G
c.5057C>G (p.Thr1686Ser)
n.795C>G
c.5000C>G (p.Thr1667Ser)
c.5066C>G (p.Thr1689Ser)
c.4991C>G (p.Thr1664Ser)
n.2846C>G
c.5123C>G (p.Thr1708Ser)
c.5069C>G (p.Thr1690Ser)
c.5084C>G (p.Thr1695Ser)
c.4994C>G (p.Thr1665Ser)
c.5119C>G
n.3282C>G
c.5192C>G (p.Thr1731Ser)
n.4013C>G
n.2450C>G
n.2421C>G
n.2311C>G
c.4853C>G (p.Thr1618Ser)
c.*4365C>G (n.*4365C>G)
c.4889C>G (p.Thr1630Ser)
n.2921C>G
c.1380C>G
n.2313C>G
c.5252C>G (p.Thr1751Ser)
c.5249C>G (p.Thr1750Ser)
c.5141C>G (p.Thr1714Ser)
c.5120C>G (p.Thr1707Ser)
c.4466C>G (p.Thr1489Ser)
c.5414C>G (p.Thr1805Ser)
c.5162C>G (p.Thr1721Ser)
c.3908C>G (p.Thr1303Ser)
 dbSNP gnomAD v2 gnomAD v4
16g.2088264C>TCA394314253TSC2c.*3547C>T (n.*3547C>T)
c.5045C>T (p.Thr1682Ile)
c.5195C>T (p.Thr1732Ile)
c.*5711C>T (n.*5711C>T)
c.*7947C>T (n.*7947C>T)
c.5198C>T (p.Thr1733Ile)
c.5129C>T (p.Thr1710Ile)
c.4997C>T (p.Thr1666Ile)
c.5030C>T (p.Thr1677Ile)
c.1421C>T
n.3080C>T
c.3852C>T
c.5057C>T (p.Thr1686Ile)
n.795C>T
c.5000C>T (p.Thr1667Ile)
c.5066C>T (p.Thr1689Ile)
c.4991C>T (p.Thr1664Ile)
n.2846C>T
c.5123C>T (p.Thr1708Ile)
c.5069C>T (p.Thr1690Ile)
c.5084C>T (p.Thr1695Ile)
c.4994C>T (p.Thr1665Ile)
c.5119C>T
n.3282C>T
c.5192C>T (p.Thr1731Ile)
n.4013C>T
n.2450C>T
n.2421C>T
n.2311C>T
c.4853C>T (p.Thr1618Ile)
c.*4365C>T (n.*4365C>T)
c.4889C>T (p.Thr1630Ile)
n.2921C>T
c.1380C>T
n.2313C>T
c.5252C>T (p.Thr1751Ile)
c.5249C>T (p.Thr1750Ile)
c.5141C>T (p.Thr1714Ile)
c.5120C>T (p.Thr1707Ile)
c.4466C>T (p.Thr1489Ile)
c.5414C>T (p.Thr1805Ile)
c.5162C>T (p.Thr1721Ile)
c.3908C>T (p.Thr1303Ile)
 dbSNP
16g.2088265C>ACA16614834TSC2c.*3548C>A (n.*3548C>A)
c.5046C>A (p.Thr1682=)
c.5196C>A (p.Thr1732=)
c.*5712C>A (n.*5712C>A)
c.*7948C>A (n.*7948C>A)
c.5199C>A (p.Thr1733=)
c.5130C>A (p.Thr1710=)
c.4998C>A (p.Thr1666=)
c.5031C>A (p.Thr1677=)
c.1422C>A
n.3081C>A
c.3853C>A
c.5058C>A (p.Thr1686=)
n.796C>A
c.5001C>A (p.Thr1667=)
c.5067C>A (p.Thr1689=)
c.4992C>A (p.Thr1664=)
n.2847C>A
c.5124C>A (p.Thr1708=)
c.5070C>A (p.Thr1690=)
c.5085C>A (p.Thr1695=)
c.4995C>A (p.Thr1665=)
c.5120C>A
n.3283C>A
c.5193C>A (p.Thr1731=)
n.4014C>A
n.2451C>A
n.2422C>A
n.2312C>A
c.4854C>A (p.Thr1618=)
c.*4366C>A (n.*4366C>A)
c.4890C>A (p.Thr1630=)
n.2922C>A
c.1381C>A
n.2314C>A
c.5253C>A (p.Thr1751=)
c.5250C>A (p.Thr1750=)
c.5142C>A (p.Thr1714=)
c.5121C>A (p.Thr1707=)
c.4467C>A (p.Thr1489=)
c.5415C>A (p.Thr1805=)
c.5163C>A (p.Thr1721=)
c.3909C>A (p.Thr1303=)
 ClinVar dbSNP
16g.2088265C=CA2202031923TSC2c.*3548C= (n.*3548C=)
c.5046C= (p.Thr1682=)
c.5196C= (p.Thr1732=)
c.*5712C= (n.*5712C=)
c.*7948C= (n.*7948C=)
c.5199C= (p.Thr1733=)
c.5130C= (p.Thr1710=)
c.4998C= (p.Thr1666=)
c.5031C= (p.Thr1677=)
c.1422C=
n.3081C=
c.3853C=
c.5058C= (p.Thr1686=)
n.796C=
c.5001C= (p.Thr1667=)
c.5067C= (p.Thr1689=)
c.4992C= (p.Thr1664=)
n.2847C=
c.5124C= (p.Thr1708=)
c.5070C= (p.Thr1690=)
c.5085C= (p.Thr1695=)
c.4995C= (p.Thr1665=)
c.5120C=
n.3283C=
c.5193C= (p.Thr1731=)
n.4014C=
n.2451C=
n.2422C=
n.2312C=
c.4854C= (p.Thr1618=)
c.*4366C= (n.*4366C=)
c.4890C= (p.Thr1630=)
n.2922C=
c.1381C=
n.2314C=
c.5253C= (p.Thr1751=)
c.5250C= (p.Thr1750=)
c.5142C= (p.Thr1714=)
c.5121C= (p.Thr1707=)
c.4467C= (p.Thr1489=)
c.5415C= (p.Thr1805=)
c.5163C= (p.Thr1721=)
c.3909C= (p.Thr1303=)
16g.2088265C>GCA493043773TSC2c.*3548C>G (n.*3548C>G)
c.5046C>G (p.Thr1682=)
c.5196C>G (p.Thr1732=)
c.*5712C>G (n.*5712C>G)
c.*7948C>G (n.*7948C>G)
c.5199C>G (p.Thr1733=)
c.5130C>G (p.Thr1710=)
c.4998C>G (p.Thr1666=)
c.5031C>G (p.Thr1677=)
c.1422C>G
n.3081C>G
c.3853C>G
c.5058C>G (p.Thr1686=)
n.796C>G
c.5001C>G (p.Thr1667=)
c.5067C>G (p.Thr1689=)
c.4992C>G (p.Thr1664=)
n.2847C>G
c.5124C>G (p.Thr1708=)
c.5070C>G (p.Thr1690=)
c.5085C>G (p.Thr1695=)
c.4995C>G (p.Thr1665=)
c.5120C>G
n.3283C>G
c.5193C>G (p.Thr1731=)
n.4014C>G
n.2451C>G
n.2422C>G
n.2312C>G
c.4854C>G (p.Thr1618=)
c.*4366C>G (n.*4366C>G)
c.4890C>G (p.Thr1630=)
n.2922C>G
c.1381C>G
n.2314C>G
c.5253C>G (p.Thr1751=)
c.5250C>G (p.Thr1750=)
c.5142C>G (p.Thr1714=)
c.5121C>G (p.Thr1707=)
c.4467C>G (p.Thr1489=)
c.5415C>G (p.Thr1805=)
c.5163C>G (p.Thr1721=)
c.3909C>G (p.Thr1303=)
 ClinVar dbSNP
16g.2088265C>TCA054385TSC2c.*3548C>T (n.*3548C>T)
c.5046C>T (p.Thr1682=)
c.5196C>T (p.Thr1732=)
c.*5712C>T (n.*5712C>T)
c.*7948C>T (n.*7948C>T)
c.5199C>T (p.Thr1733=)
c.5130C>T (p.Thr1710=)
c.4998C>T (p.Thr1666=)
c.5031C>T (p.Thr1677=)
c.1422C>T
n.3081C>T
c.3853C>T
c.5058C>T (p.Thr1686=)
n.796C>T
c.5001C>T (p.Thr1667=)
c.5067C>T (p.Thr1689=)
c.4992C>T (p.Thr1664=)
n.2847C>T
c.5124C>T (p.Thr1708=)
c.5070C>T (p.Thr1690=)
c.5085C>T (p.Thr1695=)
c.4995C>T (p.Thr1665=)
c.5120C>T
n.3283C>T
c.5193C>T (p.Thr1731=)
n.4014C>T
n.2451C>T
n.2422C>T
n.2312C>T
c.4854C>T (p.Thr1618=)
c.*4366C>T (n.*4366C>T)
c.4890C>T (p.Thr1630=)
n.2922C>T
c.1381C>T
n.2314C>T
c.5253C>T (p.Thr1751=)
c.5250C>T (p.Thr1750=)
c.5142C>T (p.Thr1714=)
c.5121C>T (p.Thr1707=)
c.4467C>T (p.Thr1489=)
c.5415C>T (p.Thr1805=)
c.5163C>T (p.Thr1721=)
c.3909C>T (p.Thr1303=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2088266G>ACA054398TSC2c.*3549G>A (n.*3549G>A)
c.5047G>A (p.Asp1683Asn)
c.5197G>A (p.Asp1733Asn)
c.*5713G>A (n.*5713G>A)
c.*7949G>A (n.*7949G>A)
c.5200G>A (p.Asp1734Asn)
c.5131G>A (p.Asp1711Asn)
c.4999G>A (p.Asp1667Asn)
c.5032G>A (p.Asp1678Asn)
c.1423G>A
n.3082G>A
c.3854G>A
c.5059G>A (p.Asp1687Asn)
n.797G>A
c.5002G>A (p.Asp1668Asn)
c.5068G>A (p.Asp1690Asn)
c.4993G>A (p.Asp1665Asn)
n.2848G>A
c.5125G>A (p.Asp1709Asn)
c.5071G>A (p.Asp1691Asn)
c.5086G>A (p.Asp1696Asn)
c.4996G>A (p.Asp1666Asn)
c.5121G>A
n.3284G>A
c.5194G>A (p.Asp1732Asn)
n.4015G>A
n.2452G>A
n.2423G>A
n.2313G>A
c.4855G>A (p.Asp1619Asn)
c.*4367G>A (n.*4367G>A)
c.4891G>A (p.Asp1631Asn)
n.2923G>A
c.1382G>A
n.2315G>A
c.5254G>A (p.Asp1752Asn)
c.5251G>A (p.Asp1751Asn)
c.5143G>A (p.Asp1715Asn)
c.5122G>A (p.Asp1708Asn)
c.4468G>A (p.Asp1490Asn)
c.5416G>A (p.Asp1806Asn)
c.5164G>A (p.Asp1722Asn)
c.3910G>A (p.Asp1304Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2088266G>CCA394314257TSC2c.*3549G>C (n.*3549G>C)
c.5047G>C (p.Asp1683His)
c.5197G>C (p.Asp1733His)
c.*5713G>C (n.*5713G>C)
c.*7949G>C (n.*7949G>C)
c.5200G>C (p.Asp1734His)
c.5131G>C (p.Asp1711His)
c.4999G>C (p.Asp1667His)
c.5032G>C (p.Asp1678His)
c.1423G>C
n.3082G>C
c.3854G>C
c.5059G>C (p.Asp1687His)
n.797G>C
c.5002G>C (p.Asp1668His)
c.5068G>C (p.Asp1690His)
c.4993G>C (p.Asp1665His)
n.2848G>C
c.5125G>C (p.Asp1709His)
c.5071G>C (p.Asp1691His)
c.5086G>C (p.Asp1696His)
c.4996G>C (p.Asp1666His)
c.5121G>C
n.3284G>C
c.5194G>C (p.Asp1732His)
n.4015G>C
n.2452G>C
n.2423G>C
n.2313G>C
c.4855G>C (p.Asp1619His)
c.*4367G>C (n.*4367G>C)
c.4891G>C (p.Asp1631His)
n.2923G>C
c.1382G>C
n.2315G>C
c.5254G>C (p.Asp1752His)
c.5251G>C (p.Asp1751His)
c.5143G>C (p.Asp1715His)
c.5122G>C (p.Asp1708His)
c.4468G>C (p.Asp1490His)
c.5416G>C (p.Asp1806His)
c.5164G>C (p.Asp1722His)
c.3910G>C (p.Asp1304His)
 dbSNP gnomAD v3 gnomAD v4
16g.2088266G=CA2202031937TSC2c.*3549G= (n.*3549G=)
c.5047G= (p.Asp1683=)
c.5197G= (p.Asp1733=)
c.*5713G= (n.*5713G=)
c.*7949G= (n.*7949G=)
c.5200G= (p.Asp1734=)
c.5131G= (p.Asp1711=)
c.4999G= (p.Asp1667=)
c.5032G= (p.Asp1678=)
c.1423G=
n.3082G=
c.3854G=
c.5059G= (p.Asp1687=)
n.797G=
c.5002G= (p.Asp1668=)
c.5068G= (p.Asp1690=)
c.4993G= (p.Asp1665=)
n.2848G=
c.5125G= (p.Asp1709=)
c.5071G= (p.Asp1691=)
c.5086G= (p.Asp1696=)
c.4996G= (p.Asp1666=)
c.5121G=
n.3284G=
c.5194G= (p.Asp1732=)
n.4015G=
n.2452G=
n.2423G=
n.2313G=
c.4855G= (p.Asp1619=)
c.*4367G= (n.*4367G=)
c.4891G= (p.Asp1631=)
n.2923G=
c.1382G=
n.2315G=
c.5254G= (p.Asp1752=)
c.5251G= (p.Asp1751=)
c.5143G= (p.Asp1715=)
c.5122G= (p.Asp1708=)
c.4468G= (p.Asp1490=)
c.5416G= (p.Asp1806=)
c.5164G= (p.Asp1722=)
c.3910G= (p.Asp1304=)
16g.2088266G>TCA394314254TSC2c.*3549G>T (n.*3549G>T)
c.5047G>T (p.Asp1683Tyr)
c.5197G>T (p.Asp1733Tyr)
c.*5713G>T (n.*5713G>T)
c.*7949G>T (n.*7949G>T)
c.5200G>T (p.Asp1734Tyr)
c.5131G>T (p.Asp1711Tyr)
c.4999G>T (p.Asp1667Tyr)
c.5032G>T (p.Asp1678Tyr)
c.1423G>T
n.3082G>T
c.3854G>T
c.5059G>T (p.Asp1687Tyr)
n.797G>T
c.5002G>T (p.Asp1668Tyr)
c.5068G>T (p.Asp1690Tyr)
c.4993G>T (p.Asp1665Tyr)
n.2848G>T
c.5125G>T (p.Asp1709Tyr)
c.5071G>T (p.Asp1691Tyr)
c.5086G>T (p.Asp1696Tyr)
c.4996G>T (p.Asp1666Tyr)
c.5121G>T
n.3284G>T
c.5194G>T (p.Asp1732Tyr)
n.4015G>T
n.2452G>T
n.2423G>T
n.2313G>T
c.4855G>T (p.Asp1619Tyr)
c.*4367G>T (n.*4367G>T)
c.4891G>T (p.Asp1631Tyr)
n.2923G>T
c.1382G>T
n.2315G>T
c.5254G>T (p.Asp1752Tyr)
c.5251G>T (p.Asp1751Tyr)
c.5143G>T (p.Asp1715Tyr)
c.5122G>T (p.Asp1708Tyr)
c.4468G>T (p.Asp1490Tyr)
c.5416G>T (p.Asp1806Tyr)
c.5164G>T (p.Asp1722Tyr)
c.3910G>T (p.Asp1304Tyr)
 dbSNP
16g.2088266_2088268delinsAACCA915946265TSC2c.*3549_*3551delinsAAC (n.*3549_*3551delinsAAC)
c.5047_5049delinsAAC (p.Asp1683Asn)
c.5197_5199delinsAAC (p.Asp1733Asn)
c.*5713_*5715delinsAAC (n.*5713_*5715delinsAAC)
c.*7949_*7951delinsAAC (n.*7949_*7951delinsAAC)
c.5200_5202delinsAAC (p.Asp1734Asn)
c.5131_5133delinsAAC (p.Asp1711Asn)
c.4999_5001delinsAAC (p.Asp1667Asn)
c.5032_5034delinsAAC (p.Asp1678Asn)
c.1423_1425delinsAAC
n.3082_3084delinsAAC
c.3854_3856delinsAAC
c.5059_5061delinsAAC (p.Asp1687Asn)
n.797_799delinsAAC
c.5002_5004delinsAAC (p.Asp1668Asn)
c.5068_5070delinsAAC (p.Asp1690Asn)
c.4993_4995delinsAAC (p.Asp1665Asn)
n.2848_2850delinsAAC
c.5125_5127delinsAAC (p.Asp1709Asn)
c.5071_5073delinsAAC (p.Asp1691Asn)
c.5086_5088delinsAAC (p.Asp1696Asn)
c.4996_4998delinsAAC (p.Asp1666Asn)
c.5121_5123delinsAAC
n.3284_3286delinsAAC
c.5194_5196delinsAAC (p.Asp1732Asn)
n.4015_4017delinsAAC
n.2452_2454delinsAAC
n.2423_2425delinsAAC
n.2313_2315delinsAAC
c.4855_4857delinsAAC (p.Asp1619Asn)
c.*4367_*4369delinsAAC (n.*4367_*4369delinsAAC)
c.4891_4893delinsAAC (p.Asp1631Asn)
n.2923_2925delinsAAC
c.1382_1384delinsAAC
n.2315_2317delinsAAC
c.5254_5256delinsAAC (p.Asp1752Asn)
c.5251_5253delinsAAC (p.Asp1751Asn)
c.5143_5145delinsAAC (p.Asp1715Asn)
c.5122_5124delinsAAC (p.Asp1708Asn)
c.4468_4470delinsAAC (p.Asp1490Asn)
c.5416_5418delinsAAC (p.Asp1806Asn)
c.5164_5166delinsAAC (p.Asp1722Asn)
c.3910_3912delinsAAC (p.Asp1304Asn)
 ClinVar dbSNP
16g.2088266_2088268delinsGATCA2202031942TSC2c.*3549_*3551delinsGAT (n.*3549_*3551delinsGAT)
c.5047_5049delinsGAT (p.Asp1683=)
c.5197_5199delinsGAT (p.Asp1733=)
c.*5713_*5715delinsGAT (n.*5713_*5715delinsGAT)
c.*7949_*7951delinsGAT (n.*7949_*7951delinsGAT)
c.5200_5202delinsGAT (p.Asp1734=)
c.5131_5133delinsGAT (p.Asp1711=)
c.4999_5001delinsGAT (p.Asp1667=)
c.5032_5034delinsGAT (p.Asp1678=)
c.1423_1425delinsGAT
n.3082_3084delinsGAT
c.3854_3856delinsGAT
c.5059_5061delinsGAT (p.Asp1687=)
n.797_799delinsGAT
c.5002_5004delinsGAT (p.Asp1668=)
c.5068_5070delinsGAT (p.Asp1690=)
c.4993_4995delinsGAT (p.Asp1665=)
n.2848_2850delinsGAT
c.5125_5127delinsGAT (p.Asp1709=)
c.5071_5073delinsGAT (p.Asp1691=)
c.5086_5088delinsGAT (p.Asp1696=)
c.4996_4998delinsGAT (p.Asp1666=)
c.5121_5123delinsGAT
n.3284_3286delinsGAT
c.5194_5196delinsGAT (p.Asp1732=)
n.4015_4017delinsGAT
n.2452_2454delinsGAT
n.2423_2425delinsGAT
n.2313_2315delinsGAT
c.4855_4857delinsGAT (p.Asp1619=)
c.*4367_*4369delinsGAT (n.*4367_*4369delinsGAT)
c.4891_4893delinsGAT (p.Asp1631=)
n.2923_2925delinsGAT
c.1382_1384delinsGAT
n.2315_2317delinsGAT
c.5254_5256delinsGAT (p.Asp1752=)
c.5251_5253delinsGAT (p.Asp1751=)
c.5143_5145delinsGAT (p.Asp1715=)
c.5122_5124delinsGAT (p.Asp1708=)
c.4468_4470delinsGAT (p.Asp1490=)
c.5416_5418delinsGAT (p.Asp1806=)
c.5164_5166delinsGAT (p.Asp1722=)
c.3910_3912delinsGAT (p.Asp1304=)
16g.2088267A=CA2202031948TSC2c.*3550A= (n.*3550A=)
c.5048A= (p.Asp1683=)
c.5198A= (p.Asp1733=)
c.*5714A= (n.*5714A=)
c.*7950A= (n.*7950A=)
c.5201A= (p.Asp1734=)
c.5132A= (p.Asp1711=)
c.5000A= (p.Asp1667=)
c.5033A= (p.Asp1678=)
c.1424A=
n.3083A=
c.3855A=
c.5060A= (p.Asp1687=)
n.798A=
c.5003A= (p.Asp1668=)
c.5069A= (p.Asp1690=)
c.4994A= (p.Asp1665=)
n.2849A=
c.5126A= (p.Asp1709=)
c.5072A= (p.Asp1691=)
c.5087A= (p.Asp1696=)
c.4997A= (p.Asp1666=)
c.5122A=
n.3285A=
c.5195A= (p.Asp1732=)
n.4016A=
n.2453A=
n.2424A=
n.2314A=
c.4856A= (p.Asp1619=)
c.*4368A= (n.*4368A=)
c.4892A= (p.Asp1631=)
n.2924A=
c.1383A=
n.2316A=
c.5255A= (p.Asp1752=)
c.5252A= (p.Asp1751=)
c.5144A= (p.Asp1715=)
c.5123A= (p.Asp1708=)
c.4469A= (p.Asp1490=)
c.5417A= (p.Asp1806=)
c.5165A= (p.Asp1722=)
c.3911A= (p.Asp1304=)
16g.2088267A>CCA394314276TSC2c.*3550A>C (n.*3550A>C)
c.5048A>C (p.Asp1683Ala)
c.5198A>C (p.Asp1733Ala)
c.*5714A>C (n.*5714A>C)
c.*7950A>C (n.*7950A>C)
c.5201A>C (p.Asp1734Ala)
c.5132A>C (p.Asp1711Ala)
c.5000A>C (p.Asp1667Ala)
c.5033A>C (p.Asp1678Ala)
c.1424A>C
n.3083A>C
c.3855A>C
c.5060A>C (p.Asp1687Ala)
n.798A>C
c.5003A>C (p.Asp1668Ala)
c.5069A>C (p.Asp1690Ala)
c.4994A>C (p.Asp1665Ala)
n.2849A>C
c.5126A>C (p.Asp1709Ala)
c.5072A>C (p.Asp1691Ala)
c.5087A>C (p.Asp1696Ala)
c.4997A>C (p.Asp1666Ala)
c.5122A>C
n.3285A>C
c.5195A>C (p.Asp1732Ala)
n.4016A>C
n.2453A>C
n.2424A>C
n.2314A>C
c.4856A>C (p.Asp1619Ala)
c.*4368A>C (n.*4368A>C)
c.4892A>C (p.Asp1631Ala)
n.2924A>C
c.1383A>C
n.2316A>C
c.5255A>C (p.Asp1752Ala)
c.5252A>C (p.Asp1751Ala)
c.5144A>C (p.Asp1715Ala)
c.5123A>C (p.Asp1708Ala)
c.4469A>C (p.Asp1490Ala)
c.5417A>C (p.Asp1806Ala)
c.5165A>C (p.Asp1722Ala)
c.3911A>C (p.Asp1304Ala)
 ClinVar dbSNP gnomAD v4
16g.2088267A>GCA16614798TSC2c.*3550A>G (n.*3550A>G)
c.5048A>G (p.Asp1683Gly)
c.5198A>G (p.Asp1733Gly)
c.*5714A>G (n.*5714A>G)
c.*7950A>G (n.*7950A>G)
c.5201A>G (p.Asp1734Gly)
c.5132A>G (p.Asp1711Gly)
c.5000A>G (p.Asp1667Gly)
c.5033A>G (p.Asp1678Gly)
c.1424A>G
n.3083A>G
c.3855A>G
c.5060A>G (p.Asp1687Gly)
n.798A>G
c.5003A>G (p.Asp1668Gly)
c.5069A>G (p.Asp1690Gly)
c.4994A>G (p.Asp1665Gly)
n.2849A>G
c.5126A>G (p.Asp1709Gly)
c.5072A>G (p.Asp1691Gly)
c.5087A>G (p.Asp1696Gly)
c.4997A>G (p.Asp1666Gly)
c.5122A>G
n.3285A>G
c.5195A>G (p.Asp1732Gly)
n.4016A>G
n.2453A>G
n.2424A>G
n.2314A>G
c.4856A>G (p.Asp1619Gly)
c.*4368A>G (n.*4368A>G)
c.4892A>G (p.Asp1631Gly)
n.2924A>G
c.1383A>G
n.2316A>G
c.5255A>G (p.Asp1752Gly)
c.5252A>G (p.Asp1751Gly)
c.5144A>G (p.Asp1715Gly)
c.5123A>G (p.Asp1708Gly)
c.4469A>G (p.Asp1490Gly)
c.5417A>G (p.Asp1806Gly)
c.5165A>G (p.Asp1722Gly)
c.3911A>G (p.Asp1304Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.2088267A>TCA10583344TSC2c.*3550A>T (n.*3550A>T)
c.5048A>T (p.Asp1683Val)
c.5198A>T (p.Asp1733Val)
c.*5714A>T (n.*5714A>T)
c.*7950A>T (n.*7950A>T)
c.5201A>T (p.Asp1734Val)
c.5132A>T (p.Asp1711Val)
c.5000A>T (p.Asp1667Val)
c.5033A>T (p.Asp1678Val)
c.1424A>T
n.3083A>T
c.3855A>T
c.5060A>T (p.Asp1687Val)
n.798A>T
c.5003A>T (p.Asp1668Val)
c.5069A>T (p.Asp1690Val)
c.4994A>T (p.Asp1665Val)
n.2849A>T
c.5126A>T (p.Asp1709Val)
c.5072A>T (p.Asp1691Val)
c.5087A>T (p.Asp1696Val)
c.4997A>T (p.Asp1666Val)
c.5122A>T
n.3285A>T
c.5195A>T (p.Asp1732Val)
n.4016A>T
n.2453A>T
n.2424A>T
n.2314A>T
c.4856A>T (p.Asp1619Val)
c.*4368A>T (n.*4368A>T)
c.4892A>T (p.Asp1631Val)
n.2924A>T
c.1383A>T
n.2316A>T
c.5255A>T (p.Asp1752Val)
c.5252A>T (p.Asp1751Val)
c.5144A>T (p.Asp1715Val)
c.5123A>T (p.Asp1708Val)
c.4469A>T (p.Asp1490Val)
c.5417A>T (p.Asp1806Val)
c.5165A>T (p.Asp1722Val)
c.3911A>T (p.Asp1304Val)
 ClinVar dbSNP gnomAD v4
16g.2088267_2088268insCACA2631118547TSC2c.*3550_*3551insCA (n.*3550_*3551insCA)
c.5048_5049insCA (p.Tyr1685SerfsTer?)
c.5198_5199insCA (p.Tyr1735SerfsTer?)
c.*5714_*5715insCA (n.*5714_*5715insCA)
c.*7950_*7951insCA (n.*7950_*7951insCA)
c.5201_5202insCA (p.Tyr1736SerfsTer?)
c.5132_5133insCA (p.Tyr1713SerfsTer?)
c.5000_5001insCA (p.Tyr1669SerfsTer?)
c.5033_5034insCA (p.Tyr1680SerfsTer?)
c.1424_1425insCA
n.3083_3084insCA
c.3855_3856insCA
c.5060_5061insCA (p.Tyr1689SerfsTer?)
n.798_799insCA
c.5003_5004insCA (p.Tyr1670SerfsTer?)
c.5069_5070insCA (p.Tyr1692SerfsTer?)
c.4994_4995insCA (p.Tyr1667SerfsTer?)
n.2849_2850insCA
c.5126_5127insCA (p.Tyr1711SerfsTer?)
c.5072_5073insCA (p.Tyr1693SerfsTer?)
c.5087_5088insCA (p.Tyr1698SerfsTer?)
c.4997_4998insCA (p.Tyr1668SerfsTer?)
c.5122_5123insCA
n.3285_3286insCA
c.5195_5196insCA (p.Tyr1734SerfsTer?)
n.4016_4017insCA
n.2453_2454insCA
n.2424_2425insCA
n.2314_2315insCA
c.4856_4857insCA (p.Tyr1621SerfsTer?)
c.*4368_*4369insCA (n.*4368_*4369insCA)
c.4892_4893insCA (p.Tyr1633SerfsTer?)
n.2924_2925insCA
c.1383_1384insCA
n.2316_2317insCA
c.5255_5256insCA (p.Tyr1754SerfsTer?)
c.5252_5253insCA (p.Tyr1753SerfsTer?)
c.5144_5145insCA (p.Tyr1717SerfsTer?)
c.5123_5124insCA (p.Tyr1710SerfsTer?)
c.4469_4470insCA (p.Tyr1492SerfsTer?)
c.5417_5418insCA (p.Tyr1808SerfsTer?)
c.5165_5166insCA (p.Tyr1724SerfsTer?)
c.3911_3912insCA (p.Tyr1306SerfsTer?)
 gnomAD v4
16g.2088268T>ACA022125TSC2c.*3551T>A (n.*3551T>A)
c.5049T>A (p.Asp1683Glu)
c.5199T>A (p.Asp1733Glu)
c.*5715T>A (n.*5715T>A)
c.*7951T>A (n.*7951T>A)
c.5202T>A (p.Asp1734Glu)
c.5133T>A (p.Asp1711Glu)
c.5001T>A (p.Asp1667Glu)
c.5034T>A (p.Asp1678Glu)
c.1425T>A
n.3084T>A
c.3856T>A
c.5061T>A (p.Asp1687Glu)
n.799T>A
c.5004T>A (p.Asp1668Glu)
c.5070T>A (p.Asp1690Glu)
c.4995T>A (p.Asp1665Glu)
n.2850T>A
c.5127T>A (p.Asp1709Glu)
c.5073T>A (p.Asp1691Glu)
c.5088T>A (p.Asp1696Glu)
c.4998T>A (p.Asp1666Glu)
c.5123T>A
n.3286T>A
c.5196T>A (p.Asp1732Glu)
n.4017T>A
n.2454T>A
n.2425T>A
n.2315T>A
c.4857T>A (p.Asp1619Glu)
c.*4369T>A (n.*4369T>A)
c.4893T>A (p.Asp1631Glu)
n.2925T>A
c.1384T>A
n.2317T>A
c.5256T>A (p.Asp1752Glu)
c.5253T>A (p.Asp1751Glu)
c.5145T>A (p.Asp1715Glu)
c.5124T>A (p.Asp1708Glu)
c.4470T>A (p.Asp1490Glu)
c.5418T>A (p.Asp1806Glu)
c.5166T>A (p.Asp1722Glu)
c.3912T>A (p.Asp1304Glu)
 ClinVar dbSNP
16g.2088268T>CCA022131TSC2c.*3551T>C (n.*3551T>C)
c.5049T>C (p.Asp1683=)
c.5199T>C (p.Asp1733=)
c.*5715T>C (n.*5715T>C)
c.*7951T>C (n.*7951T>C)
c.5202T>C (p.Asp1734=)
c.5133T>C (p.Asp1711=)
c.5001T>C (p.Asp1667=)
c.5034T>C (p.Asp1678=)
c.1425T>C
n.3084T>C
c.3856T>C
c.5061T>C (p.Asp1687=)
n.799T>C
c.5004T>C (p.Asp1668=)
c.5070T>C (p.Asp1690=)
c.4995T>C (p.Asp1665=)
n.2850T>C
c.5127T>C (p.Asp1709=)
c.5073T>C (p.Asp1691=)
c.5088T>C (p.Asp1696=)
c.4998T>C (p.Asp1666=)
c.5123T>C
n.3286T>C
c.5196T>C (p.Asp1732=)
n.4017T>C
n.2454T>C
n.2425T>C
n.2315T>C
c.4857T>C (p.Asp1619=)
c.*4369T>C (n.*4369T>C)
c.4893T>C (p.Asp1631=)
n.2925T>C
c.1384T>C
n.2317T>C
c.5256T>C (p.Asp1752=)
c.5253T>C (p.Asp1751=)
c.5145T>C (p.Asp1715=)
c.5124T>C (p.Asp1708=)
c.4470T>C (p.Asp1490=)
c.5418T>C (p.Asp1806=)
c.5166T>C (p.Asp1722=)
c.3912T>C (p.Asp1304=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2088268T>GCA276759437TSC2c.*3551T>G (n.*3551T>G)
c.5049T>G (p.Asp1683Glu)
c.5199T>G (p.Asp1733Glu)
c.*5715T>G (n.*5715T>G)
c.*7951T>G (n.*7951T>G)
c.5202T>G (p.Asp1734Glu)
c.5133T>G (p.Asp1711Glu)
c.5001T>G (p.Asp1667Glu)
c.5034T>G (p.Asp1678Glu)
c.1425T>G
n.3084T>G
c.3856T>G
c.5061T>G (p.Asp1687Glu)
n.799T>G
c.5004T>G (p.Asp1668Glu)
c.5070T>G (p.Asp1690Glu)
c.4995T>G (p.Asp1665Glu)
n.2850T>G
c.5127T>G (p.Asp1709Glu)
c.5073T>G (p.Asp1691Glu)
c.5088T>G (p.Asp1696Glu)
c.4998T>G (p.Asp1666Glu)
c.5123T>G
n.3286T>G
c.5196T>G (p.Asp1732Glu)
n.4017T>G
n.2454T>G
n.2425T>G
n.2315T>G
c.4857T>G (p.Asp1619Glu)
c.*4369T>G (n.*4369T>G)
c.4893T>G (p.Asp1631Glu)
n.2925T>G
c.1384T>G
n.2317T>G
c.5256T>G (p.Asp1752Glu)
c.5253T>G (p.Asp1751Glu)
c.5145T>G (p.Asp1715Glu)
c.5124T>G (p.Asp1708Glu)
c.4470T>G (p.Asp1490Glu)
c.5418T>G (p.Asp1806Glu)
c.5166T>G (p.Asp1722Glu)
c.3912T>G (p.Asp1304Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2088268T=CA2202031964TSC2c.*3551T= (n.*3551T=)
c.5049T= (p.Asp1683=)
c.5199T= (p.Asp1733=)
c.*5715T= (n.*5715T=)
c.*7951T= (n.*7951T=)
c.5202T= (p.Asp1734=)
c.5133T= (p.Asp1711=)
c.5001T= (p.Asp1667=)
c.5034T= (p.Asp1678=)
c.1425T=
n.3084T=
c.3856T=
c.5061T= (p.Asp1687=)
n.799T=
c.5004T= (p.Asp1668=)
c.5070T= (p.Asp1690=)
c.4995T= (p.Asp1665=)
n.2850T=
c.5127T= (p.Asp1709=)
c.5073T= (p.Asp1691=)
c.5088T= (p.Asp1696=)
c.4998T= (p.Asp1666=)
c.5123T=
n.3286T=
c.5196T= (p.Asp1732=)
n.4017T=
n.2454T=
n.2425T=
n.2315T=
c.4857T= (p.Asp1619=)
c.*4369T= (n.*4369T=)
c.4893T= (p.Asp1631=)
n.2925T=
c.1384T=
n.2317T=
c.5256T= (p.Asp1752=)
c.5253T= (p.Asp1751=)
c.5145T= (p.Asp1715=)
c.5124T= (p.Asp1708=)
c.4470T= (p.Asp1490=)
c.5418T= (p.Asp1806=)
c.5166T= (p.Asp1722=)
c.3912T= (p.Asp1304=)
16g.2088268delinsCCCA2731829118TSC2c.*3551delinsCC (n.*3551delinsCC)
c.5049delinsCC (p.Ile1684HisfsTer?)
c.5199delinsCC (p.Ile1734HisfsTer?)
c.*5715delinsCC (n.*5715delinsCC)
c.*7951delinsCC (n.*7951delinsCC)
c.5202delinsCC (p.Ile1735HisfsTer?)
c.5133delinsCC (p.Ile1712HisfsTer?)
c.5001delinsCC (p.Ile1668HisfsTer?)
c.5034delinsCC (p.Ile1679HisfsTer?)
c.1425delinsCC
n.3084delinsCC
c.3856delinsCC
c.5061delinsCC (p.Ile1688HisfsTer?)
n.799delinsCC
c.5004delinsCC (p.Ile1669HisfsTer?)
c.5070delinsCC (p.Ile1691HisfsTer?)
c.4995delinsCC (p.Ile1666HisfsTer?)
n.2850delinsCC
c.5127delinsCC (p.Ile1710HisfsTer?)
c.5073delinsCC (p.Ile1692HisfsTer?)
c.5088delinsCC (p.Ile1697HisfsTer?)
c.4998delinsCC (p.Ile1667HisfsTer?)
c.5123delinsCC
n.3286delinsCC
c.5196delinsCC (p.Ile1733HisfsTer?)
n.4017delinsCC
n.2454delinsCC
n.2425delinsCC
n.2315delinsCC
c.4857delinsCC (p.Ile1620HisfsTer?)
c.*4369delinsCC (n.*4369delinsCC)
c.4893delinsCC (p.Ile1632HisfsTer?)
n.2925delinsCC
c.1384delinsCC
n.2317delinsCC
c.5256delinsCC (p.Ile1753HisfsTer?)
c.5253delinsCC (p.Ile1752HisfsTer?)
c.5145delinsCC (p.Ile1716HisfsTer?)
c.5124delinsCC (p.Ile1709HisfsTer?)
c.4470delinsCC (p.Ile1491HisfsTer?)
c.5418delinsCC (p.Ile1807HisfsTer?)
c.5166delinsCC (p.Ile1723HisfsTer?)
c.3912delinsCC (p.Ile1305HisfsTer?)
 dbSNP
16g.2088268_2088269delinsCGCA2739269936TSC2c.*3551_*3552delinsCG (n.*3551_*3552delinsCG)
c.5049_5050delinsCG (p.Ile1684Val)
c.5199_5200delinsCG (p.Ile1734Val)
c.*5715_*5716delinsCG (n.*5715_*5716delinsCG)
c.*7951_*7952delinsCG (n.*7951_*7952delinsCG)
c.5202_5203delinsCG (p.Ile1735Val)
c.5133_5134delinsCG (p.Ile1712Val)
c.5001_5002delinsCG (p.Ile1668Val)
c.5034_5035delinsCG (p.Ile1679Val)
c.1425_1426delinsCG
n.3084_3085delinsCG
c.3856_3857delinsCG
c.5061_5062delinsCG (p.Ile1688Val)
n.799_800delinsCG
c.5004_5005delinsCG (p.Ile1669Val)
c.5070_5071delinsCG (p.Ile1691Val)
c.4995_4996delinsCG (p.Ile1666Val)
n.2850_2851delinsCG
c.5127_5128delinsCG (p.Ile1710Val)
c.5073_5074delinsCG (p.Ile1692Val)
c.5088_5089delinsCG (p.Ile1697Val)
c.4998_4999delinsCG (p.Ile1667Val)
c.5123_5124delinsCG
n.3286_3287delinsCG
c.5196_5197delinsCG (p.Ile1733Val)
n.4017_4018delinsCG
n.2454_2455delinsCG
n.2425_2426delinsCG
n.2315_2316delinsCG
c.4857_4858delinsCG (p.Ile1620Val)
c.*4369_*4370delinsCG (n.*4369_*4370delinsCG)
c.4893_4894delinsCG (p.Ile1632Val)
n.2925_2926delinsCG
c.1384_1385delinsCG
n.2317_2318delinsCG
c.5256_5257delinsCG (p.Ile1753Val)
c.5253_5254delinsCG (p.Ile1752Val)
c.5145_5146delinsCG (p.Ile1716Val)
c.5124_5125delinsCG (p.Ile1709Val)
c.4470_4471delinsCG (p.Ile1491Val)
c.5418_5419delinsCG (p.Ile1807Val)
c.5166_5167delinsCG (p.Ile1723Val)
c.3912_3913delinsCG (p.Ile1305Val)
 ClinVar
16g.2088270_2088273dupCA022142TSC2c.*3553_*3556dup (n.*3553_*3556dup)
c.5051_5054dup (p.Pro1686LeufsTer?)
c.5201_5204dup (p.Pro1736LeufsTer?)
c.*5717_*5720dup (n.*5717_*5720dup)
c.*7953_*7956dup (n.*7953_*7956dup)
c.5204_5207dup (p.Pro1737LeufsTer?)
c.5135_5138dup (p.Pro1714LeufsTer?)
c.5003_5006dup (p.Pro1670LeufsTer?)
c.5036_5039dup (p.Pro1681LeufsTer?)
c.1427_1430dup
n.3086_3089dup
c.3858_3861dup
c.5063_5066dup (p.Pro1690LeufsTer?)
n.801_804dup
c.5006_5009dup (p.Pro1671LeufsTer?)
c.5072_5075dup (p.Pro1693LeufsTer?)
c.4997_5000dup (p.Pro1668LeufsTer?)
n.2852_2855dup
c.5129_5132dup (p.Pro1712LeufsTer?)
c.5075_5078dup (p.Pro1694LeufsTer?)
c.5090_5093dup (p.Pro1699LeufsTer?)
c.5000_5003dup (p.Pro1669LeufsTer?)
c.5125_5128dup
n.3288_3291dup
c.5198_5201dup (p.Pro1735LeufsTer?)
n.4019_4022dup
n.2456_2459dup
n.2427_2430dup
n.2317_2320dup
c.4859_4862dup (p.Pro1622LeufsTer?)
c.*4371_*4374dup (n.*4371_*4374dup)
c.4895_4898dup (p.Pro1634LeufsTer?)
n.2927_2930dup
c.1386_1389dup
n.2319_2322dup
c.5258_5261dup (p.Pro1755LeufsTer?)
c.5255_5258dup (p.Pro1754LeufsTer?)
c.5147_5150dup (p.Pro1718LeufsTer?)
c.5126_5129dup (p.Pro1711LeufsTer?)
c.4472_4475dup (p.Pro1493LeufsTer?)
c.5420_5423dup (p.Pro1809LeufsTer?)
c.5168_5171dup (p.Pro1725LeufsTer?)
c.3914_3917dup (p.Pro1307LeufsTer?)
 ClinVar dbSNP
16g.2088270_2088273delCA2739269935TSC2c.*3553_*3556del (n.*3553_*3556del)
c.5051_5054del (p.Ile1684ThrfsTer?)
c.5201_5204del (p.Ile1734ThrfsTer?)
c.*5717_*5720del (n.*5717_*5720del)
c.*7953_*7956del (n.*7953_*7956del)
c.5204_5207del (p.Ile1735ThrfsTer?)
c.5135_5138del (p.Ile1712ThrfsTer?)
c.5003_5006del (p.Ile1668ThrfsTer?)
c.5036_5039del (p.Ile1679ThrfsTer?)
c.1427_1430del
n.3086_3089del
c.3858_3861del
c.5063_5066del (p.Ile1688ThrfsTer?)
n.801_804del
c.5006_5009del (p.Ile1669ThrfsTer?)
c.5072_5075del (p.Ile1691ThrfsTer?)
c.4997_5000del (p.Ile1666ThrfsTer?)
n.2852_2855del
c.5129_5132del (p.Ile1710ThrfsTer?)
c.5075_5078del (p.Ile1692ThrfsTer?)
c.5090_5093del (p.Ile1697ThrfsTer?)
c.5000_5003del (p.Ile1667ThrfsTer?)
c.5125_5128del
n.3288_3291del
c.5198_5201del (p.Ile1733ThrfsTer?)
n.4019_4022del
n.2456_2459del
n.2427_2430del
n.2317_2320del
c.4859_4862del (p.Ile1620ThrfsTer?)
c.*4371_*4374del (n.*4371_*4374del)
c.4895_4898del (p.Ile1632ThrfsTer?)
n.2927_2930del
c.1386_1389del
n.2319_2322del
c.5258_5261del (p.Ile1753ThrfsTer?)
c.5255_5258del (p.Ile1752ThrfsTer?)
c.5147_5150del (p.Ile1716ThrfsTer?)
c.5126_5129del (p.Ile1709ThrfsTer?)
c.4472_4475del (p.Ile1491ThrfsTer?)
c.5420_5423del (p.Ile1807ThrfsTer?)
c.5168_5171del (p.Ile1723ThrfsTer?)
c.3914_3917del (p.Ile1305ThrfsTer?)
 ClinVar
16g.2088268_2088269insCCA2631118554TSC2c.*3551_*3552insC (n.*3551_*3552insC)
c.5049_5050insC (p.Ile1684HisfsTer?)
c.5199_5200insC (p.Ile1734HisfsTer?)
c.*5715_*5716insC (n.*5715_*5716insC)
c.*7951_*7952insC (n.*7951_*7952insC)
c.5202_5203insC (p.Ile1735HisfsTer?)
c.5133_5134insC (p.Ile1712HisfsTer?)
c.5001_5002insC (p.Ile1668HisfsTer?)
c.5034_5035insC (p.Ile1679HisfsTer?)
c.1425_1426insC
n.3084_3085insC
c.3856_3857insC
c.5061_5062insC (p.Ile1688HisfsTer?)
n.799_800insC
c.5004_5005insC (p.Ile1669HisfsTer?)
c.5070_5071insC (p.Ile1691HisfsTer?)
c.4995_4996insC (p.Ile1666HisfsTer?)
n.2850_2851insC
c.5127_5128insC (p.Ile1710HisfsTer?)
c.5073_5074insC (p.Ile1692HisfsTer?)
c.5088_5089insC (p.Ile1697HisfsTer?)
c.4998_4999insC (p.Ile1667HisfsTer?)
c.5123_5124insC
n.3286_3287insC
c.5196_5197insC (p.Ile1733HisfsTer?)
n.4017_4018insC
n.2454_2455insC
n.2425_2426insC
n.2315_2316insC
c.4857_4858insC (p.Ile1620HisfsTer?)
c.*4369_*4370insC (n.*4369_*4370insC)
c.4893_4894insC (p.Ile1632HisfsTer?)
n.2925_2926insC
c.1384_1385insC
n.2317_2318insC
c.5256_5257insC (p.Ile1753HisfsTer?)
c.5253_5254insC (p.Ile1752HisfsTer?)
c.5145_5146insC (p.Ile1716HisfsTer?)
c.5124_5125insC (p.Ile1709HisfsTer?)
c.4470_4471insC (p.Ile1491HisfsTer?)
c.5418_5419insC (p.Ile1807HisfsTer?)
c.5166_5167insC (p.Ile1723HisfsTer?)
c.3912_3913insC (p.Ile1305HisfsTer?)
 gnomAD v4
16g.2088269A=CA2202031983TSC2c.*3552A= (n.*3552A=)
c.5050A= (p.Ile1684=)
c.5200A= (p.Ile1734=)
c.*5716A= (n.*5716A=)
c.*7952A= (n.*7952A=)
c.5203A= (p.Ile1735=)
c.5134A= (p.Ile1712=)
c.5002A= (p.Ile1668=)
c.5035A= (p.Ile1679=)
c.1426A=
n.3085A=
c.3857A=
c.5062A= (p.Ile1688=)
n.800A=
c.5005A= (p.Ile1669=)
c.5071A= (p.Ile1691=)
c.4996A= (p.Ile1666=)
n.2851A=
c.5128A= (p.Ile1710=)
c.5074A= (p.Ile1692=)
c.5089A= (p.Ile1697=)
c.4999A= (p.Ile1667=)
c.5124A=
n.3287A=
c.5197A= (p.Ile1733=)
n.4018A=
n.2455A=
n.2426A=
n.2316A=
c.4858A= (p.Ile1620=)
c.*4370A= (n.*4370A=)
c.4894A= (p.Ile1632=)
n.2926A=
c.1385A=
n.2318A=
c.5257A= (p.Ile1753=)
c.5254A= (p.Ile1752=)
c.5146A= (p.Ile1716=)
c.5125A= (p.Ile1709=)
c.4471A= (p.Ile1491=)
c.5419A= (p.Ile1807=)
c.5167A= (p.Ile1723=)
c.3913A= (p.Ile1305=)
16g.2088269A>CCA394314289TSC2c.*3552A>C (n.*3552A>C)
c.5050A>C (p.Ile1684Leu)
c.5200A>C (p.Ile1734Leu)
c.*5716A>C (n.*5716A>C)
c.*7952A>C (n.*7952A>C)
c.5203A>C (p.Ile1735Leu)
c.5134A>C (p.Ile1712Leu)
c.5002A>C (p.Ile1668Leu)
c.5035A>C (p.Ile1679Leu)
c.1426A>C
n.3085A>C
c.3857A>C
c.5062A>C (p.Ile1688Leu)
n.800A>C
c.5005A>C (p.Ile1669Leu)
c.5071A>C (p.Ile1691Leu)
c.4996A>C (p.Ile1666Leu)
n.2851A>C
c.5128A>C (p.Ile1710Leu)
c.5074A>C (p.Ile1692Leu)
c.5089A>C (p.Ile1697Leu)
c.4999A>C (p.Ile1667Leu)
c.5124A>C
n.3287A>C
c.5197A>C (p.Ile1733Leu)
n.4018A>C
n.2455A>C
n.2426A>C
n.2316A>C
c.4858A>C (p.Ile1620Leu)
c.*4370A>C (n.*4370A>C)
c.4894A>C (p.Ile1632Leu)
n.2926A>C
c.1385A>C
n.2318A>C
c.5257A>C (p.Ile1753Leu)
c.5254A>C (p.Ile1752Leu)
c.5146A>C (p.Ile1716Leu)
c.5125A>C (p.Ile1709Leu)
c.4471A>C (p.Ile1491Leu)
c.5419A>C (p.Ile1807Leu)
c.5167A>C (p.Ile1723Leu)
c.3913A>C (p.Ile1305Leu)
 dbSNP
16g.2088269A>GCA054409TSC2c.*3552A>G (n.*3552A>G)
c.5050A>G (p.Ile1684Val)
c.5200A>G (p.Ile1734Val)
c.*5716A>G (n.*5716A>G)
c.*7952A>G (n.*7952A>G)
c.5203A>G (p.Ile1735Val)
c.5134A>G (p.Ile1712Val)
c.5002A>G (p.Ile1668Val)
c.5035A>G (p.Ile1679Val)
c.1426A>G
n.3085A>G
c.3857A>G
c.5062A>G (p.Ile1688Val)
n.800A>G
c.5005A>G (p.Ile1669Val)
c.5071A>G (p.Ile1691Val)
c.4996A>G (p.Ile1666Val)
n.2851A>G
c.5128A>G (p.Ile1710Val)
c.5074A>G (p.Ile1692Val)
c.5089A>G (p.Ile1697Val)
c.4999A>G (p.Ile1667Val)
c.5124A>G
n.3287A>G
c.5197A>G (p.Ile1733Val)
n.4018A>G
n.2455A>G
n.2426A>G
n.2316A>G
c.4858A>G (p.Ile1620Val)
c.*4370A>G (n.*4370A>G)
c.4894A>G (p.Ile1632Val)
n.2926A>G
c.1385A>G
n.2318A>G
c.5257A>G (p.Ile1753Val)
c.5254A>G (p.Ile1752Val)
c.5146A>G (p.Ile1716Val)
c.5125A>G (p.Ile1709Val)
c.4471A>G (p.Ile1491Val)
c.5419A>G (p.Ile1807Val)
c.5167A>G (p.Ile1723Val)
c.3913A>G (p.Ile1305Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2088269A>TCA394314290TSC2c.*3552A>T (n.*3552A>T)
c.5050A>T (p.Ile1684Phe)
c.5200A>T (p.Ile1734Phe)
c.*5716A>T (n.*5716A>T)
c.*7952A>T (n.*7952A>T)
c.5203A>T (p.Ile1735Phe)
c.5134A>T (p.Ile1712Phe)
c.5002A>T (p.Ile1668Phe)
c.5035A>T (p.Ile1679Phe)
c.1426A>T
n.3085A>T
c.3857A>T
c.5062A>T (p.Ile1688Phe)
n.800A>T
c.5005A>T (p.Ile1669Phe)
c.5071A>T (p.Ile1691Phe)
c.4996A>T (p.Ile1666Phe)
n.2851A>T
c.5128A>T (p.Ile1710Phe)
c.5074A>T (p.Ile1692Phe)
c.5089A>T (p.Ile1697Phe)
c.4999A>T (p.Ile1667Phe)
c.5124A>T
n.3287A>T
c.5197A>T (p.Ile1733Phe)
n.4018A>T
n.2455A>T
n.2426A>T
n.2316A>T
c.4858A>T (p.Ile1620Phe)
c.*4370A>T (n.*4370A>T)
c.4894A>T (p.Ile1632Phe)
n.2926A>T
c.1385A>T
n.2318A>T
c.5257A>T (p.Ile1753Phe)
c.5254A>T (p.Ile1752Phe)
c.5146A>T (p.Ile1716Phe)
c.5125A>T (p.Ile1709Phe)
c.4471A>T (p.Ile1491Phe)
c.5419A>T (p.Ile1807Phe)
c.5167A>T (p.Ile1723Phe)
c.3913A>T (p.Ile1305Phe)
 dbSNP
16g.2088269dupCA10603258TSC2c.*3552dup (n.*3552dup)
c.5050dup (p.Ile1684AsnfsTer?)
c.5200dup (p.Ile1734AsnfsTer?)
c.*5716dup (n.*5716dup)
c.*7952dup (n.*7952dup)
c.5203dup (p.Ile1735AsnfsTer?)
c.5134dup (p.Ile1712AsnfsTer?)
c.5002dup (p.Ile1668AsnfsTer?)
c.5035dup (p.Ile1679AsnfsTer?)
c.1426dup
n.3085dup
c.3857dup
c.5062dup (p.Ile1688AsnfsTer?)
n.800dup
c.5005dup (p.Ile1669AsnfsTer?)
c.5071dup (p.Ile1691AsnfsTer?)
c.4996dup (p.Ile1666AsnfsTer?)
n.2851dup
c.5128dup (p.Ile1710AsnfsTer?)
c.5074dup (p.Ile1692AsnfsTer?)
c.5089dup (p.Ile1697AsnfsTer?)
c.4999dup (p.Ile1667AsnfsTer?)
c.5124dup
n.3287dup
c.5197dup (p.Ile1733AsnfsTer?)
n.4018dup
n.2455dup
n.2426dup
n.2316dup
c.4858dup (p.Ile1620AsnfsTer?)
c.*4370dup (n.*4370dup)
c.4894dup (p.Ile1632AsnfsTer?)
n.2926dup
c.1385dup
n.2318dup
c.5257dup (p.Ile1753AsnfsTer?)
c.5254dup (p.Ile1752AsnfsTer?)
c.5146dup (p.Ile1716AsnfsTer?)
c.5125dup (p.Ile1709AsnfsTer?)
c.4471dup (p.Ile1491AsnfsTer?)
c.5419dup (p.Ile1807AsnfsTer?)
c.5167dup (p.Ile1723AsnfsTer?)
c.3913dup (p.Ile1305AsnfsTer?)
 ClinVar dbSNP
16g.2088270T>ACA394314293TSC2c.*3553T>A (n.*3553T>A)
c.5051T>A (p.Ile1684Asn)
c.5201T>A (p.Ile1734Asn)
c.*5717T>A (n.*5717T>A)
c.*7953T>A (n.*7953T>A)
c.5204T>A (p.Ile1735Asn)
c.5135T>A (p.Ile1712Asn)
c.5003T>A (p.Ile1668Asn)
c.5036T>A (p.Ile1679Asn)
c.1427T>A
n.3086T>A
c.3858T>A
c.5063T>A (p.Ile1688Asn)
n.801T>A
c.5006T>A (p.Ile1669Asn)
c.5072T>A (p.Ile1691Asn)
c.4997T>A (p.Ile1666Asn)
n.2852T>A
c.5129T>A (p.Ile1710Asn)
c.5075T>A (p.Ile1692Asn)
c.5090T>A (p.Ile1697Asn)
c.5000T>A (p.Ile1667Asn)
c.5125T>A
n.3288T>A
c.5198T>A (p.Ile1733Asn)
n.4019T>A
n.2456T>A
n.2427T>A
n.2317T>A
c.4859T>A (p.Ile1620Asn)
c.*4371T>A (n.*4371T>A)
c.4895T>A (p.Ile1632Asn)
n.2927T>A
c.1386T>A
n.2319T>A
c.5258T>A (p.Ile1753Asn)
c.5255T>A (p.Ile1752Asn)
c.5147T>A (p.Ile1716Asn)
c.5126T>A (p.Ile1709Asn)
c.4472T>A (p.Ile1491Asn)
c.5420T>A (p.Ile1807Asn)
c.5168T>A (p.Ile1723Asn)
c.3914T>A (p.Ile1305Asn)
 dbSNP
16g.2088270T>CCA276759442TSC2c.*3553T>C (n.*3553T>C)
c.5051T>C (p.Ile1684Thr)
c.5201T>C (p.Ile1734Thr)
c.*5717T>C (n.*5717T>C)
c.*7953T>C (n.*7953T>C)
c.5204T>C (p.Ile1735Thr)
c.5135T>C (p.Ile1712Thr)
c.5003T>C (p.Ile1668Thr)
c.5036T>C (p.Ile1679Thr)
c.1427T>C
n.3086T>C
c.3858T>C
c.5063T>C (p.Ile1688Thr)
n.801T>C
c.5006T>C (p.Ile1669Thr)
c.5072T>C (p.Ile1691Thr)
c.4997T>C (p.Ile1666Thr)
n.2852T>C
c.5129T>C (p.Ile1710Thr)
c.5075T>C (p.Ile1692Thr)
c.5090T>C (p.Ile1697Thr)
c.5000T>C (p.Ile1667Thr)
c.5125T>C
n.3288T>C
c.5198T>C (p.Ile1733Thr)
n.4019T>C
n.2456T>C
n.2427T>C
n.2317T>C
c.4859T>C (p.Ile1620Thr)
c.*4371T>C (n.*4371T>C)
c.4895T>C (p.Ile1632Thr)
n.2927T>C
c.1386T>C
n.2319T>C
c.5258T>C (p.Ile1753Thr)
c.5255T>C (p.Ile1752Thr)
c.5147T>C (p.Ile1716Thr)
c.5126T>C (p.Ile1709Thr)
c.4472T>C (p.Ile1491Thr)
c.5420T>C (p.Ile1807Thr)
c.5168T>C (p.Ile1723Thr)
c.3914T>C (p.Ile1305Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2088270T>GCA022137TSC2c.*3553T>G (n.*3553T>G)
c.5051T>G (p.Ile1684Ser)
c.5201T>G (p.Ile1734Ser)
c.*5717T>G (n.*5717T>G)
c.*7953T>G (n.*7953T>G)
c.5204T>G (p.Ile1735Ser)
c.5135T>G (p.Ile1712Ser)
c.5003T>G (p.Ile1668Ser)
c.5036T>G (p.Ile1679Ser)
c.1427T>G
n.3086T>G
c.3858T>G
c.5063T>G (p.Ile1688Ser)
n.801T>G
c.5006T>G (p.Ile1669Ser)
c.5072T>G (p.Ile1691Ser)
c.4997T>G (p.Ile1666Ser)
n.2852T>G
c.5129T>G (p.Ile1710Ser)
c.5075T>G (p.Ile1692Ser)
c.5090T>G (p.Ile1697Ser)
c.5000T>G (p.Ile1667Ser)
c.5125T>G
n.3288T>G
c.5198T>G (p.Ile1733Ser)
n.4019T>G
n.2456T>G
n.2427T>G
n.2317T>G
c.4859T>G (p.Ile1620Ser)
c.*4371T>G (n.*4371T>G)
c.4895T>G (p.Ile1632Ser)
n.2927T>G
c.1386T>G
n.2319T>G
c.5258T>G (p.Ile1753Ser)
c.5255T>G (p.Ile1752Ser)
c.5147T>G (p.Ile1716Ser)
c.5126T>G (p.Ile1709Ser)
c.4472T>G (p.Ile1491Ser)
c.5420T>G (p.Ile1807Ser)
c.5168T>G (p.Ile1723Ser)
c.3914T>G (p.Ile1305Ser)
 ClinVar dbSNP
16g.2088270T=CA2202032003TSC2c.*3553T= (n.*3553T=)
c.5051T= (p.Ile1684=)
c.5201T= (p.Ile1734=)
c.*5717T= (n.*5717T=)
c.*7953T= (n.*7953T=)
c.5204T= (p.Ile1735=)
c.5135T= (p.Ile1712=)
c.5003T= (p.Ile1668=)
c.5036T= (p.Ile1679=)
c.1427T=
n.3086T=
c.3858T=
c.5063T= (p.Ile1688=)
n.801T=
c.5006T= (p.Ile1669=)
c.5072T= (p.Ile1691=)
c.4997T= (p.Ile1666=)
n.2852T=
c.5129T= (p.Ile1710=)
c.5075T= (p.Ile1692=)
c.5090T= (p.Ile1697=)
c.5000T= (p.Ile1667=)
c.5125T=
n.3288T=
c.5198T= (p.Ile1733=)
n.4019T=
n.2456T=
n.2427T=
n.2317T=
c.4859T= (p.Ile1620=)
c.*4371T= (n.*4371T=)
c.4895T= (p.Ile1632=)
n.2927T=
c.1386T=
n.2319T=
c.5258T= (p.Ile1753=)
c.5255T= (p.Ile1752=)
c.5147T= (p.Ile1716=)
c.5126T= (p.Ile1709=)
c.4472T= (p.Ile1491=)
c.5420T= (p.Ile1807=)
c.5168T= (p.Ile1723=)
c.3914T= (p.Ile1305=)
16g.2088271C>ACA493043779TSC2c.*3554C>A (n.*3554C>A)
c.5052C>A (p.Ile1684=)
c.5202C>A (p.Ile1734=)
c.*5718C>A (n.*5718C>A)
c.*7954C>A (n.*7954C>A)
c.5205C>A (p.Ile1735=)
c.5136C>A (p.Ile1712=)
c.5004C>A (p.Ile1668=)
c.5037C>A (p.Ile1679=)
c.1428C>A
n.3087C>A
c.3859C>A
c.5064C>A (p.Ile1688=)
n.802C>A
c.5007C>A (p.Ile1669=)
c.5073C>A (p.Ile1691=)
c.4998C>A (p.Ile1666=)
n.2853C>A
c.5130C>A (p.Ile1710=)
c.5076C>A (p.Ile1692=)
c.5091C>A (p.Ile1697=)
c.5001C>A (p.Ile1667=)
c.5126C>A
n.3289C>A
c.5199C>A (p.Ile1733=)
n.4020C>A
n.2457C>A
n.2428C>A
n.2318C>A
c.4860C>A (p.Ile1620=)
c.*4372C>A (n.*4372C>A)
c.4896C>A (p.Ile1632=)
n.2928C>A
c.1387C>A
n.2320C>A
c.5259C>A (p.Ile1753=)
c.5256C>A (p.Ile1752=)
c.5148C>A (p.Ile1716=)
c.5127C>A (p.Ile1709=)
c.4473C>A (p.Ile1491=)
c.5421C>A (p.Ile1807=)
c.5169C>A (p.Ile1723=)
c.3915C>A (p.Ile1305=)
16g.2088271C=CA2202032010TSC2c.*3554C= (n.*3554C=)
c.5052C= (p.Ile1684=)
c.5202C= (p.Ile1734=)
c.*5718C= (n.*5718C=)
c.*7954C= (n.*7954C=)
c.5205C= (p.Ile1735=)
c.5136C= (p.Ile1712=)
c.5004C= (p.Ile1668=)
c.5037C= (p.Ile1679=)
c.1428C=
n.3087C=
c.3859C=
c.5064C= (p.Ile1688=)
n.802C=
c.5007C= (p.Ile1669=)
c.5073C= (p.Ile1691=)
c.4998C= (p.Ile1666=)
n.2853C=
c.5130C= (p.Ile1710=)
c.5076C= (p.Ile1692=)
c.5091C= (p.Ile1697=)
c.5001C= (p.Ile1667=)
c.5126C=
n.3289C=
c.5199C= (p.Ile1733=)
n.4020C=
n.2457C=
n.2428C=
n.2318C=
c.4860C= (p.Ile1620=)
c.*4372C= (n.*4372C=)
c.4896C= (p.Ile1632=)
n.2928C=
c.1387C=
n.2320C=
c.5259C= (p.Ile1753=)
c.5256C= (p.Ile1752=)
c.5148C= (p.Ile1716=)
c.5127C= (p.Ile1709=)
c.4473C= (p.Ile1491=)
c.5421C= (p.Ile1807=)
c.5169C= (p.Ile1723=)
c.3915C= (p.Ile1305=)
16g.2088271C>GCA394314300TSC2c.*3554C>G (n.*3554C>G)
c.5052C>G (p.Ile1684Met)
c.5202C>G (p.Ile1734Met)
c.*5718C>G (n.*5718C>G)
c.*7954C>G (n.*7954C>G)
c.5205C>G (p.Ile1735Met)
c.5136C>G (p.Ile1712Met)
c.5004C>G (p.Ile1668Met)
c.5037C>G (p.Ile1679Met)
c.1428C>G
n.3087C>G
c.3859C>G
c.5064C>G (p.Ile1688Met)
n.802C>G
c.5007C>G (p.Ile1669Met)
c.5073C>G (p.Ile1691Met)
c.4998C>G (p.Ile1666Met)
n.2853C>G
c.5130C>G (p.Ile1710Met)
c.5076C>G (p.Ile1692Met)
c.5091C>G (p.Ile1697Met)
c.5001C>G (p.Ile1667Met)
c.5126C>G
n.3289C>G
c.5199C>G (p.Ile1733Met)
n.4020C>G
n.2457C>G
n.2428C>G
n.2318C>G
c.4860C>G (p.Ile1620Met)
c.*4372C>G (n.*4372C>G)
c.4896C>G (p.Ile1632Met)
n.2928C>G
c.1387C>G
n.2320C>G
c.5259C>G (p.Ile1753Met)
c.5256C>G (p.Ile1752Met)
c.5148C>G (p.Ile1716Met)
c.5127C>G (p.Ile1709Met)
c.4473C>G (p.Ile1491Met)
c.5421C>G (p.Ile1807Met)
c.5169C>G (p.Ile1723Met)
c.3915C>G (p.Ile1305Met)
 dbSNP
16g.2088271C>TCA493043780TSC2c.*3554C>T (n.*3554C>T)
c.5052C>T (p.Ile1684=)
c.5202C>T (p.Ile1734=)
c.*5718C>T (n.*5718C>T)
c.*7954C>T (n.*7954C>T)
c.5205C>T (p.Ile1735=)
c.5136C>T (p.Ile1712=)
c.5004C>T (p.Ile1668=)
c.5037C>T (p.Ile1679=)
c.1428C>T
n.3087C>T
c.3859C>T
c.5064C>T (p.Ile1688=)
n.802C>T
c.5007C>T (p.Ile1669=)
c.5073C>T (p.Ile1691=)
c.4998C>T (p.Ile1666=)
n.2853C>T
c.5130C>T (p.Ile1710=)
c.5076C>T (p.Ile1692=)
c.5091C>T (p.Ile1697=)
c.5001C>T (p.Ile1667=)
c.5126C>T
n.3289C>T
c.5199C>T (p.Ile1733=)
n.4020C>T
n.2457C>T
n.2428C>T
n.2318C>T
c.4860C>T (p.Ile1620=)
c.*4372C>T (n.*4372C>T)
c.4896C>T (p.Ile1632=)
n.2928C>T
c.1387C>T
n.2320C>T
c.5259C>T (p.Ile1753=)
c.5256C>T (p.Ile1752=)
c.5148C>T (p.Ile1716=)
c.5127C>T (p.Ile1709=)
c.4473C>T (p.Ile1491=)
c.5421C>T (p.Ile1807=)
c.5169C>T (p.Ile1723=)
c.3915C>T (p.Ile1305=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.2088272T>ACA394314301TSC2c.*3555T>A (n.*3555T>A)
c.5053T>A (p.Tyr1685Asn)
c.5203T>A (p.Tyr1735Asn)
c.*5719T>A (n.*5719T>A)
c.*7955T>A (n.*7955T>A)
c.5206T>A (p.Tyr1736Asn)
c.5137T>A (p.Tyr1713Asn)
c.5005T>A (p.Tyr1669Asn)
c.5038T>A (p.Tyr1680Asn)
c.1429T>A
n.3088T>A
c.3860T>A
c.5065T>A (p.Tyr1689Asn)
n.803T>A
c.5008T>A (p.Tyr1670Asn)
c.5074T>A (p.Tyr1692Asn)
c.4999T>A (p.Tyr1667Asn)
n.2854T>A
c.5131T>A (p.Tyr1711Asn)
c.5077T>A (p.Tyr1693Asn)
c.5092T>A (p.Tyr1698Asn)
c.5002T>A (p.Tyr1668Asn)
c.5127T>A
n.3290T>A
c.5200T>A (p.Tyr1734Asn)
n.4021T>A
n.2458T>A
n.2429T>A
n.2319T>A
c.4861T>A (p.Tyr1621Asn)
c.*4373T>A (n.*4373T>A)
c.4897T>A (p.Tyr1633Asn)
n.2929T>A
c.1388T>A
n.2321T>A
c.5260T>A (p.Tyr1754Asn)
c.5257T>A (p.Tyr1753Asn)
c.5149T>A (p.Tyr1717Asn)
c.5128T>A (p.Tyr1710Asn)
c.4474T>A (p.Tyr1492Asn)
c.5422T>A (p.Tyr1808Asn)
c.5170T>A (p.Tyr1724Asn)
c.3916T>A (p.Tyr1306Asn)
 dbSNP
16g.2088272T>CCA394314305TSC2c.*3555T>C (n.*3555T>C)
c.5053T>C (p.Tyr1685His)
c.5203T>C (p.Tyr1735His)
c.*5719T>C (n.*5719T>C)
c.*7955T>C (n.*7955T>C)
c.5206T>C (p.Tyr1736His)
c.5137T>C (p.Tyr1713His)
c.5005T>C (p.Tyr1669His)
c.5038T>C (p.Tyr1680His)
c.1429T>C
n.3088T>C
c.3860T>C
c.5065T>C (p.Tyr1689His)
n.803T>C
c.5008T>C (p.Tyr1670His)
c.5074T>C (p.Tyr1692His)
c.4999T>C (p.Tyr1667His)
n.2854T>C
c.5131T>C (p.Tyr1711His)
c.5077T>C (p.Tyr1693His)
c.5092T>C (p.Tyr1698His)
c.5002T>C (p.Tyr1668His)
c.5127T>C
n.3290T>C
c.5200T>C (p.Tyr1734His)
n.4021T>C
n.2458T>C
n.2429T>C
n.2319T>C
c.4861T>C (p.Tyr1621His)
c.*4373T>C (n.*4373T>C)
c.4897T>C (p.Tyr1633His)
n.2929T>C
c.1388T>C
n.2321T>C
c.5260T>C (p.Tyr1754His)
c.5257T>C (p.Tyr1753His)
c.5149T>C (p.Tyr1717His)
c.5128T>C (p.Tyr1710His)
c.4474T>C (p.Tyr1492His)
c.5422T>C (p.Tyr1808His)
c.5170T>C (p.Tyr1724His)
c.3916T>C (p.Tyr1306His)
 dbSNP
16g.2088272T>GCA394314302TSC2c.*3555T>G (n.*3555T>G)
c.5053T>G (p.Tyr1685Asp)
c.5203T>G (p.Tyr1735Asp)
c.*5719T>G (n.*5719T>G)
c.*7955T>G (n.*7955T>G)
c.5206T>G (p.Tyr1736Asp)
c.5137T>G (p.Tyr1713Asp)
c.5005T>G (p.Tyr1669Asp)
c.5038T>G (p.Tyr1680Asp)
c.1429T>G
n.3088T>G
c.3860T>G
c.5065T>G (p.Tyr1689Asp)
n.803T>G
c.5008T>G (p.Tyr1670Asp)
c.5074T>G (p.Tyr1692Asp)
c.4999T>G (p.Tyr1667Asp)
n.2854T>G
c.5131T>G (p.Tyr1711Asp)
c.5077T>G (p.Tyr1693Asp)
c.5092T>G (p.Tyr1698Asp)
c.5002T>G (p.Tyr1668Asp)
c.5127T>G
n.3290T>G
c.5200T>G (p.Tyr1734Asp)
n.4021T>G
n.2458T>G
n.2429T>G
n.2319T>G
c.4861T>G (p.Tyr1621Asp)
c.*4373T>G (n.*4373T>G)
c.4897T>G (p.Tyr1633Asp)
n.2929T>G
c.1388T>G
n.2321T>G
c.5260T>G (p.Tyr1754Asp)
c.5257T>G (p.Tyr1753Asp)
c.5149T>G (p.Tyr1717Asp)
c.5128T>G (p.Tyr1710Asp)
c.4474T>G (p.Tyr1492Asp)
c.5422T>G (p.Tyr1808Asp)
c.5170T>G (p.Tyr1724Asp)
c.3916T>G (p.Tyr1306Asp)
16g.2088273A=CA2202032016TSC2c.*3556A= (n.*3556A=)
c.5054A= (p.Tyr1685=)
c.5204A= (p.Tyr1735=)
c.*5720A= (n.*5720A=)
c.*7956A= (n.*7956A=)
c.5207A= (p.Tyr1736=)
c.5138A= (p.Tyr1713=)
c.5006A= (p.Tyr1669=)
c.5039A= (p.Tyr1680=)
c.1430A=
n.3089A=
c.3861A=
c.5066A= (p.Tyr1689=)
n.804A=
c.5009A= (p.Tyr1670=)
c.5075A= (p.Tyr1692=)
c.5000A= (p.Tyr1667=)
n.2855A=
c.5132A= (p.Tyr1711=)
c.5078A= (p.Tyr1693=)
c.5093A= (p.Tyr1698=)
c.5003A= (p.Tyr1668=)
c.5128A=
n.3291A=
c.5201A= (p.Tyr1734=)
n.4022A=
n.2459A=
n.2430A=
n.2320A=
c.4862A= (p.Tyr1621=)
c.*4374A= (n.*4374A=)
c.4898A= (p.Tyr1633=)
n.2930A=
c.1389A=
n.2322A=
c.5261A= (p.Tyr1754=)
c.5258A= (p.Tyr1753=)
c.5150A= (p.Tyr1717=)
c.5129A= (p.Tyr1710=)
c.4475A= (p.Tyr1492=)
c.5423A= (p.Tyr1808=)
c.5171A= (p.Tyr1724=)
c.3917A= (p.Tyr1306=)
16g.2088273A>CCA054421TSC2c.*3556A>C (n.*3556A>C)
c.5054A>C (p.Tyr1685Ser)
c.5204A>C (p.Tyr1735Ser)
c.*5720A>C (n.*5720A>C)
c.*7956A>C (n.*7956A>C)
c.5207A>C (p.Tyr1736Ser)
c.5138A>C (p.Tyr1713Ser)
c.5006A>C (p.Tyr1669Ser)
c.5039A>C (p.Tyr1680Ser)
c.1430A>C
n.3089A>C
c.3861A>C
c.5066A>C (p.Tyr1689Ser)
n.804A>C
c.5009A>C (p.Tyr1670Ser)
c.5075A>C (p.Tyr1692Ser)
c.5000A>C (p.Tyr1667Ser)
n.2855A>C
c.5132A>C (p.Tyr1711Ser)
c.5078A>C (p.Tyr1693Ser)
c.5093A>C (p.Tyr1698Ser)
c.5003A>C (p.Tyr1668Ser)
c.5128A>C
n.3291A>C
c.5201A>C (p.Tyr1734Ser)
n.4022A>C
n.2459A>C
n.2430A>C
n.2320A>C
c.4862A>C (p.Tyr1621Ser)
c.*4374A>C (n.*4374A>C)
c.4898A>C (p.Tyr1633Ser)
n.2930A>C
c.1389A>C
n.2322A>C
c.5261A>C (p.Tyr1754Ser)
c.5258A>C (p.Tyr1753Ser)
c.5150A>C (p.Tyr1717Ser)
c.5129A>C (p.Tyr1710Ser)
c.4475A>C (p.Tyr1492Ser)
c.5423A>C (p.Tyr1808Ser)
c.5171A>C (p.Tyr1724Ser)
c.3917A>C (p.Tyr1306Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2088273A>GCA394314314TSC2c.*3556A>G (n.*3556A>G)
c.5054A>G (p.Tyr1685Cys)
c.5204A>G (p.Tyr1735Cys)
c.*5720A>G (n.*5720A>G)
c.*7956A>G (n.*7956A>G)
c.5207A>G (p.Tyr1736Cys)
c.5138A>G (p.Tyr1713Cys)
c.5006A>G (p.Tyr1669Cys)
c.5039A>G (p.Tyr1680Cys)
c.1430A>G
n.3089A>G
c.3861A>G
c.5066A>G (p.Tyr1689Cys)
n.804A>G
c.5009A>G (p.Tyr1670Cys)
c.5075A>G (p.Tyr1692Cys)
c.5000A>G (p.Tyr1667Cys)
n.2855A>G
c.5132A>G (p.Tyr1711Cys)
c.5078A>G (p.Tyr1693Cys)
c.5093A>G (p.Tyr1698Cys)
c.5003A>G (p.Tyr1668Cys)
c.5128A>G
n.3291A>G
c.5201A>G (p.Tyr1734Cys)
n.4022A>G
n.2459A>G
n.2430A>G
n.2320A>G
c.4862A>G (p.Tyr1621Cys)
c.*4374A>G (n.*4374A>G)
c.4898A>G (p.Tyr1633Cys)
n.2930A>G
c.1389A>G
n.2322A>G
c.5261A>G (p.Tyr1754Cys)
c.5258A>G (p.Tyr1753Cys)
c.5150A>G (p.Tyr1717Cys)
c.5129A>G (p.Tyr1710Cys)
c.4475A>G (p.Tyr1492Cys)
c.5423A>G (p.Tyr1808Cys)
c.5171A>G (p.Tyr1724Cys)
c.3917A>G (p.Tyr1306Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2088273A>TCA394314317TSC2c.*3556A>T (n.*3556A>T)
c.5054A>T (p.Tyr1685Phe)
c.5204A>T (p.Tyr1735Phe)
c.*5720A>T (n.*5720A>T)
c.*7956A>T (n.*7956A>T)
c.5207A>T (p.Tyr1736Phe)
c.5138A>T (p.Tyr1713Phe)
c.5006A>T (p.Tyr1669Phe)
c.5039A>T (p.Tyr1680Phe)
c.1430A>T
n.3089A>T
c.3861A>T
c.5066A>T (p.Tyr1689Phe)
n.804A>T
c.5009A>T (p.Tyr1670Phe)
c.5075A>T (p.Tyr1692Phe)
c.5000A>T (p.Tyr1667Phe)
n.2855A>T
c.5132A>T (p.Tyr1711Phe)
c.5078A>T (p.Tyr1693Phe)
c.5093A>T (p.Tyr1698Phe)
c.5003A>T (p.Tyr1668Phe)
c.5128A>T
n.3291A>T
c.5201A>T (p.Tyr1734Phe)
n.4022A>T
n.2459A>T
n.2430A>T
n.2320A>T
c.4862A>T (p.Tyr1621Phe)
c.*4374A>T (n.*4374A>T)
c.4898A>T (p.Tyr1633Phe)
n.2930A>T
c.1389A>T
n.2322A>T
c.5261A>T (p.Tyr1754Phe)
c.5258A>T (p.Tyr1753Phe)
c.5150A>T (p.Tyr1717Phe)
c.5129A>T (p.Tyr1710Phe)
c.4475A>T (p.Tyr1492Phe)
c.5423A>T (p.Tyr1808Phe)
c.5171A>T (p.Tyr1724Phe)
c.3917A>T (p.Tyr1306Phe)
 dbSNP
16g.2088273_2088290delCA2695221755TSC2c.*3556_*3573del (n.*3556_*3573del)
c.5054_5071del (p.Tyr1685_Ala1691delinsSer)
c.5204_5221del (p.Tyr1735_Ala1741delinsSer)
c.*5720_*5737del (n.*5720_*5737del)
c.*7956_*7973del (n.*7956_*7973del)
c.5207_5224del (p.Tyr1736_Ala1742delinsSer)
c.5138_5155del (p.Tyr1713_Ala1719delinsSer)
c.5006_5023del (p.Tyr1669_Ala1675delinsSer)
c.5039_5056del (p.Tyr1680_Ala1686delinsSer)
c.1430_1447del
n.3089_3106del
c.3861_3878del
c.5066_5083del (p.Tyr1689_Ala1695delinsSer)
n.804_821del
c.5009_5026del (p.Tyr1670_Ala1676delinsSer)
c.5075_5092del (p.Tyr1692_Ala1698delinsSer)
c.5000_5017del (p.Tyr1667_Ala1673delinsSer)
n.2855_2872del
c.5132_5149del (p.Tyr1711_Ala1717delinsSer)
c.5078_5095del (p.Tyr1693_Ala1699delinsSer)
c.5093_5110del (p.Tyr1698_Ala1704delinsSer)
c.5003_5020del (p.Tyr1668_Ala1674delinsSer)
c.5128_5145del
n.3291_3308del
c.5201_5218del (p.Tyr1734_Ala1740delinsSer)
n.4022_4039del
n.2459_2476del
n.2430_2447del
n.2320_2337del
c.4862_4879del (p.Tyr1621_Ala1627delinsSer)
c.*4374_*4391del (n.*4374_*4391del)
c.4898_4915del (p.Tyr1633_Ala1639delinsSer)
n.2930_2947del
c.1389_1406del
n.2322_2339del
c.5261_5278del (p.Tyr1754_Ala1760delinsSer)
c.5258_5275del (p.Tyr1753_Ala1759delinsSer)
c.5150_5167del (p.Tyr1717_Ala1723delinsSer)
c.5129_5146del (p.Tyr1710_Ala1716delinsSer)
c.4475_4492del (p.Tyr1492_Ala1498delinsSer)
c.5423_5440del (p.Tyr1808_Ala1814delinsSer)
c.5171_5188del (p.Tyr1724_Ala1730delinsSer)
c.3917_3934del (p.Tyr1306_Ala1312delinsSer)
16g.2088274C>ACA022148TSC2c.*3557C>A (n.*3557C>A)
c.5055C>A (p.Tyr1685Ter)
c.5205C>A (p.Tyr1735Ter)
c.*5721C>A (n.*5721C>A)
c.*7957C>A (n.*7957C>A)
c.5208C>A (p.Tyr1736Ter)
c.5139C>A (p.Tyr1713Ter)
c.5007C>A (p.Tyr1669Ter)
c.5040C>A (p.Tyr1680Ter)
c.1431C>A
n.3090C>A
c.3862C>A
c.5067C>A (p.Tyr1689Ter)
n.805C>A
c.5010C>A (p.Tyr1670Ter)
c.5076C>A (p.Tyr1692Ter)
c.5001C>A (p.Tyr1667Ter)
n.2856C>A
c.5133C>A (p.Tyr1711Ter)
c.5079C>A (p.Tyr1693Ter)
c.5094C>A (p.Tyr1698Ter)
c.5004C>A (p.Tyr1668Ter)
c.5129C>A
n.3292C>A
c.5202C>A (p.Tyr1734Ter)
n.4023C>A
n.2460C>A
n.2431C>A
n.2321C>A
c.4863C>A (p.Tyr1621Ter)
c.*4375C>A (n.*4375C>A)
c.4899C>A (p.Tyr1633Ter)
n.2931C>A
c.1390C>A
n.2323C>A
c.5262C>A (p.Tyr1754Ter)
c.5259C>A (p.Tyr1753Ter)
c.5151C>A (p.Tyr1717Ter)
c.5130C>A (p.Tyr1710Ter)
c.4476C>A (p.Tyr1492Ter)
c.5424C>A (p.Tyr1808Ter)
c.5172C>A (p.Tyr1724Ter)
c.3918C>A (p.Tyr1306Ter)
 ClinVar dbSNP
16g.2088274C=CA2202032027TSC2c.*3557C= (n.*3557C=)
c.5055C= (p.Tyr1685=)
c.5205C= (p.Tyr1735=)
c.*5721C= (n.*5721C=)
c.*7957C= (n.*7957C=)
c.5208C= (p.Tyr1736=)
c.5139C= (p.Tyr1713=)
c.5007C= (p.Tyr1669=)
c.5040C= (p.Tyr1680=)
c.1431C=
n.3090C=
c.3862C=
c.5067C= (p.Tyr1689=)
n.805C=
c.5010C= (p.Tyr1670=)
c.5076C= (p.Tyr1692=)
c.5001C= (p.Tyr1667=)
n.2856C=
c.5133C= (p.Tyr1711=)
c.5079C= (p.Tyr1693=)
c.5094C= (p.Tyr1698=)
c.5004C= (p.Tyr1668=)
c.5129C=
n.3292C=
c.5202C= (p.Tyr1734=)
n.4023C=
n.2460C=
n.2431C=
n.2321C=
c.4863C= (p.Tyr1621=)
c.*4375C= (n.*4375C=)
c.4899C= (p.Tyr1633=)
n.2931C=
c.1390C=
n.2323C=
c.5262C= (p.Tyr1754=)
c.5259C= (p.Tyr1753=)
c.5151C= (p.Tyr1717=)
c.5130C= (p.Tyr1710=)
c.4476C= (p.Tyr1492=)
c.5424C= (p.Tyr1808=)
c.5172C= (p.Tyr1724=)
c.3918C= (p.Tyr1306=)
16g.2088274C>GCA394314318TSC2c.*3557C>G (n.*3557C>G)
c.5055C>G (p.Tyr1685Ter)
c.5205C>G (p.Tyr1735Ter)
c.*5721C>G (n.*5721C>G)
c.*7957C>G (n.*7957C>G)
c.5208C>G (p.Tyr1736Ter)
c.5139C>G (p.Tyr1713Ter)
c.5007C>G (p.Tyr1669Ter)
c.5040C>G (p.Tyr1680Ter)
c.1431C>G
n.3090C>G
c.3862C>G
c.5067C>G (p.Tyr1689Ter)
n.805C>G
c.5010C>G (p.Tyr1670Ter)
c.5076C>G (p.Tyr1692Ter)
c.5001C>G (p.Tyr1667Ter)
n.2856C>G
c.5133C>G (p.Tyr1711Ter)
c.5079C>G (p.Tyr1693Ter)
c.5094C>G (p.Tyr1698Ter)
c.5004C>G (p.Tyr1668Ter)
c.5129C>G
n.3292C>G
c.5202C>G (p.Tyr1734Ter)
n.4023C>G
n.2460C>G
n.2431C>G
n.2321C>G
c.4863C>G (p.Tyr1621Ter)
c.*4375C>G (n.*4375C>G)
c.4899C>G (p.Tyr1633Ter)
n.2931C>G
c.1390C>G
n.2323C>G
c.5262C>G (p.Tyr1754Ter)
c.5259C>G (p.Tyr1753Ter)
c.5151C>G (p.Tyr1717Ter)
c.5130C>G (p.Tyr1710Ter)
c.4476C>G (p.Tyr1492Ter)
c.5424C>G (p.Tyr1808Ter)
c.5172C>G (p.Tyr1724Ter)
c.3918C>G (p.Tyr1306Ter)
16g.2088274C>TCA054432TSC2c.*3557C>T (n.*3557C>T)
c.5055C>T (p.Tyr1685=)
c.5205C>T (p.Tyr1735=)
c.*5721C>T (n.*5721C>T)
c.*7957C>T (n.*7957C>T)
c.5208C>T (p.Tyr1736=)
c.5139C>T (p.Tyr1713=)
c.5007C>T (p.Tyr1669=)
c.5040C>T (p.Tyr1680=)
c.1431C>T
n.3090C>T
c.3862C>T
c.5067C>T (p.Tyr1689=)
n.805C>T
c.5010C>T (p.Tyr1670=)
c.5076C>T (p.Tyr1692=)
c.5001C>T (p.Tyr1667=)
n.2856C>T
c.5133C>T (p.Tyr1711=)
c.5079C>T (p.Tyr1693=)
c.5094C>T (p.Tyr1698=)
c.5004C>T (p.Tyr1668=)
c.5129C>T
n.3292C>T
c.5202C>T (p.Tyr1734=)
n.4023C>T
n.2460C>T
n.2431C>T
n.2321C>T
c.4863C>T (p.Tyr1621=)
c.*4375C>T (n.*4375C>T)
c.4899C>T (p.Tyr1633=)
n.2931C>T
c.1390C>T
n.2323C>T
c.5262C>T (p.Tyr1754=)
c.5259C>T (p.Tyr1753=)
c.5151C>T (p.Tyr1717=)
c.5130C>T (p.Tyr1710=)
c.4476C>T (p.Tyr1492=)
c.5424C>T (p.Tyr1808=)
c.5172C>T (p.Tyr1724=)
c.3918C>T (p.Tyr1306=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2088277dupCA2573151980TSC2c.*3560dup (n.*3560dup)
c.5058dup (p.Ser1687LeufsTer?)
c.5208dup (p.Ser1737LeufsTer?)
c.*5724dup (n.*5724dup)
c.*7960dup (n.*7960dup)
c.5211dup (p.Ser1738LeufsTer?)
c.5142dup (p.Ser1715LeufsTer?)
c.5010dup (p.Ser1671LeufsTer?)
c.5043dup (p.Ser1682LeufsTer?)
c.1434dup
n.3093dup
c.3865dup
c.5070dup (p.Ser1691LeufsTer?)
n.808dup
c.5013dup (p.Ser1672LeufsTer?)
c.5079dup (p.Ser1694LeufsTer?)
c.5004dup (p.Ser1669LeufsTer?)
n.2859dup
c.5136dup (p.Ser1713LeufsTer?)
c.5082dup (p.Ser1695LeufsTer?)
c.5097dup (p.Ser1700LeufsTer?)
c.5007dup (p.Ser1670LeufsTer?)
c.5132dup
n.3295dup
c.5205dup (p.Ser1736LeufsTer?)
n.4026dup
n.2463dup
n.2434dup
n.2324dup
c.4866dup (p.Ser1623LeufsTer?)
c.*4378dup (n.*4378dup)
c.4902dup (p.Ser1635LeufsTer?)
n.2934dup
c.1393dup
n.2326dup
c.5265dup (p.Ser1756LeufsTer?)
c.5262dup (p.Ser1755LeufsTer?)
c.5154dup (p.Ser1719LeufsTer?)
c.5133dup (p.Ser1712LeufsTer?)
c.4479dup (p.Ser1494LeufsTer?)
c.5427dup (p.Ser1810LeufsTer?)
c.5175dup (p.Ser1726LeufsTer?)
c.3921dup (p.Ser1308LeufsTer?)
 ClinVar dbSNP
16g.2088274_2088278delinsCCCCTCA2202032038TSC2c.*3557_*3561delinsCCCCT (n.*3557_*3561delinsCCCCT)
c.5055_5059delinsCCCCT (p.Tyr1685=)
c.5205_5209delinsCCCCT (p.Tyr1735=)
c.*5721_*5725delinsCCCCT (n.*5721_*5725delinsCCCCT)
c.*7957_*7961delinsCCCCT (n.*7957_*7961delinsCCCCT)
c.5208_5212delinsCCCCT (p.Tyr1736=)
c.5139_5143delinsCCCCT (p.Tyr1713=)
c.5007_5011delinsCCCCT (p.Tyr1669=)
c.5040_5044delinsCCCCT (p.Tyr1680=)
c.1431_1435delinsCCCCT
n.3090_3094delinsCCCCT
c.3862_3866delinsCCCCT
c.5067_5071delinsCCCCT (p.Tyr1689=)
n.805_809delinsCCCCT
c.5010_5014delinsCCCCT (p.Tyr1670=)
c.5076_5080delinsCCCCT (p.Tyr1692=)
c.5001_5005delinsCCCCT (p.Tyr1667=)
n.2856_2860delinsCCCCT
c.5133_5137delinsCCCCT (p.Tyr1711=)
c.5079_5083delinsCCCCT (p.Tyr1693=)
c.5094_5098delinsCCCCT (p.Tyr1698=)
c.5004_5008delinsCCCCT (p.Tyr1668=)
c.5129_5133delinsCCCCT
n.3292_3296delinsCCCCT
c.5202_5206delinsCCCCT (p.Tyr1734=)
n.4023_4027delinsCCCCT
n.2460_2464delinsCCCCT
n.2431_2435delinsCCCCT
n.2321_2325delinsCCCCT
c.4863_4867delinsCCCCT (p.Tyr1621=)
c.*4375_*4379delinsCCCCT (n.*4375_*4379delinsCCCCT)
c.4899_4903delinsCCCCT (p.Tyr1633=)
n.2931_2935delinsCCCCT
c.1390_1394delinsCCCCT
n.2323_2327delinsCCCCT
c.5262_5266delinsCCCCT (p.Tyr1754=)
c.5259_5263delinsCCCCT (p.Tyr1753=)
c.5151_5155delinsCCCCT (p.Tyr1717=)
c.5130_5134delinsCCCCT (p.Tyr1710=)
c.4476_4480delinsCCCCT (p.Tyr1492=)
c.5424_5428delinsCCCCT (p.Tyr1808=)
c.5172_5176delinsCCCCT (p.Tyr1724=)
c.3918_3922delinsCCCCT (p.Tyr1306=)
16g.2088275C>ACA394314327TSC2c.*3558C>A (n.*3558C>A)
c.5056C>A (p.Pro1686Thr)
c.5206C>A (p.Pro1736Thr)
c.*5722C>A (n.*5722C>A)
c.*7958C>A (n.*7958C>A)
c.5209C>A (p.Pro1737Thr)
c.5140C>A (p.Pro1714Thr)
c.5008C>A (p.Pro1670Thr)
c.5041C>A (p.Pro1681Thr)
c.1432C>A
n.3091C>A
c.3863C>A
c.5068C>A (p.Pro1690Thr)
n.806C>A
c.5011C>A (p.Pro1671Thr)
c.5077C>A (p.Pro1693Thr)
c.5002C>A (p.Pro1668Thr)
n.2857C>A
c.5134C>A (p.Pro1712Thr)
c.5080C>A (p.Pro1694Thr)
c.5095C>A (p.Pro1699Thr)
c.5005C>A (p.Pro1669Thr)
c.5130C>A
n.3293C>A
c.5203C>A (p.Pro1735Thr)
n.4024C>A
n.2461C>A
n.2432C>A
n.2322C>A
c.4864C>A (p.Pro1622Thr)
c.*4376C>A (n.*4376C>A)
c.4900C>A (p.Pro1634Thr)
n.2932C>A
c.1391C>A
n.2324C>A
c.5263C>A (p.Pro1755Thr)
c.5260C>A (p.Pro1754Thr)
c.5152C>A (p.Pro1718Thr)
c.5131C>A (p.Pro1711Thr)
c.4477C>A (p.Pro1493Thr)
c.5425C>A (p.Pro1809Thr)
c.5173C>A (p.Pro1725Thr)
c.3919C>A (p.Pro1307Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2088275C=CA2202032053TSC2c.*3558C= (n.*3558C=)
c.5056C= (p.Pro1686=)
c.5206C= (p.Pro1736=)
c.*5722C= (n.*5722C=)
c.*7958C= (n.*7958C=)
c.5209C= (p.Pro1737=)
c.5140C= (p.Pro1714=)
c.5008C= (p.Pro1670=)
c.5041C= (p.Pro1681=)
c.1432C=
n.3091C=
c.3863C=
c.5068C= (p.Pro1690=)
n.806C=
c.5011C= (p.Pro1671=)
c.5077C= (p.Pro1693=)
c.5002C= (p.Pro1668=)
n.2857C=
c.5134C= (p.Pro1712=)
c.5080C= (p.Pro1694=)
c.5095C= (p.Pro1699=)
c.5005C= (p.Pro1669=)
c.5130C=
n.3293C=
c.5203C= (p.Pro1735=)
n.4024C=
n.2461C=
n.2432C=
n.2322C=
c.4864C= (p.Pro1622=)
c.*4376C= (n.*4376C=)
c.4900C= (p.Pro1634=)
n.2932C=
c.1391C=
n.2324C=
c.5263C= (p.Pro1755=)
c.5260C= (p.Pro1754=)
c.5152C= (p.Pro1718=)
c.5131C= (p.Pro1711=)
c.4477C= (p.Pro1493=)
c.5425C= (p.Pro1809=)
c.5173C= (p.Pro1725=)
c.3919C= (p.Pro1307=)
16g.2088275C>GCA394314331TSC2c.*3558C>G (n.*3558C>G)
c.5056C>G (p.Pro1686Ala)
c.5206C>G (p.Pro1736Ala)
c.*5722C>G (n.*5722C>G)
c.*7958C>G (n.*7958C>G)
c.5209C>G (p.Pro1737Ala)
c.5140C>G (p.Pro1714Ala)
c.5008C>G (p.Pro1670Ala)
c.5041C>G (p.Pro1681Ala)
c.1432C>G
n.3091C>G
c.3863C>G
c.5068C>G (p.Pro1690Ala)
n.806C>G
c.5011C>G (p.Pro1671Ala)
c.5077C>G (p.Pro1693Ala)
c.5002C>G (p.Pro1668Ala)
n.2857C>G
c.5134C>G (p.Pro1712Ala)
c.5080C>G (p.Pro1694Ala)
c.5095C>G (p.Pro1699Ala)
c.5005C>G (p.Pro1669Ala)
c.5130C>G
n.3293C>G
c.5203C>G (p.Pro1735Ala)
n.4024C>G
n.2461C>G
n.2432C>G
n.2322C>G
c.4864C>G (p.Pro1622Ala)
c.*4376C>G (n.*4376C>G)
c.4900C>G (p.Pro1634Ala)
n.2932C>G
c.1391C>G
n.2324C>G
c.5263C>G (p.Pro1755Ala)
c.5260C>G (p.Pro1754Ala)
c.5152C>G (p.Pro1718Ala)
c.5131C>G (p.Pro1711Ala)
c.4477C>G (p.Pro1493Ala)
c.5425C>G (p.Pro1809Ala)
c.5173C>G (p.Pro1725Ala)
c.3919C>G (p.Pro1307Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2088275C>TCA054437TSC2c.*3558C>T (n.*3558C>T)
c.5056C>T (p.Pro1686Ser)
c.5206C>T (p.Pro1736Ser)
c.*5722C>T (n.*5722C>T)
c.*7958C>T (n.*7958C>T)
c.5209C>T (p.Pro1737Ser)
c.5140C>T (p.Pro1714Ser)
c.5008C>T (p.Pro1670Ser)
c.5041C>T (p.Pro1681Ser)
c.1432C>T
n.3091C>T
c.3863C>T
c.5068C>T (p.Pro1690Ser)
n.806C>T
c.5011C>T (p.Pro1671Ser)
c.5077C>T (p.Pro1693Ser)
c.5002C>T (p.Pro1668Ser)
n.2857C>T
c.5134C>T (p.Pro1712Ser)
c.5080C>T (p.Pro1694Ser)
c.5095C>T (p.Pro1699Ser)
c.5005C>T (p.Pro1669Ser)
c.5130C>T
n.3293C>T
c.5203C>T (p.Pro1735Ser)
n.4024C>T
n.2461C>T
n.2432C>T
n.2322C>T
c.4864C>T (p.Pro1622Ser)
c.*4376C>T (n.*4376C>T)
c.4900C>T (p.Pro1634Ser)
n.2932C>T
c.1391C>T
n.2324C>T
c.5263C>T (p.Pro1755Ser)
c.5260C>T (p.Pro1754Ser)
c.5152C>T (p.Pro1718Ser)
c.5131C>T (p.Pro1711Ser)
c.4477C>T (p.Pro1493Ser)
c.5425C>T (p.Pro1809Ser)
c.5173C>T (p.Pro1725Ser)
c.3919C>T (p.Pro1307Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2088277_2088280delCA022151TSC2c.*3560_*3563del (n.*3560_*3563del)
c.5058_5061del (p.Lys1688GlyfsTer?)
c.5208_5211del (p.Lys1738GlyfsTer?)
c.*5724_*5727del (n.*5724_*5727del)
c.*7960_*7963del (n.*7960_*7963del)
c.5211_5214del (p.Lys1739GlyfsTer?)
c.5142_5145del (p.Lys1716GlyfsTer?)
c.5010_5013del (p.Lys1672GlyfsTer?)
c.5043_5046del (p.Lys1683GlyfsTer?)
c.1434_1437del
n.3093_3096del
c.3865_3868del
c.5070_5073del (p.Lys1692GlyfsTer?)
n.808_811del
c.5013_5016del (p.Lys1673GlyfsTer?)
c.5079_5082del (p.Lys1695GlyfsTer?)
c.5004_5007del (p.Lys1670GlyfsTer?)
n.2859_2862del
c.5136_5139del (p.Lys1714GlyfsTer?)
c.5082_5085del (p.Lys1696GlyfsTer?)
c.5097_5100del (p.Lys1701GlyfsTer?)
c.5007_5010del (p.Lys1671GlyfsTer?)
c.5132_5135del
n.3295_3298del
c.5205_5208del (p.Lys1737GlyfsTer?)
n.4026_4029del
n.2463_2466del
n.2434_2437del
n.2324_2327del
c.4866_4869del (p.Lys1624GlyfsTer?)
c.*4378_*4381del (n.*4378_*4381del)
c.4902_4905del (p.Lys1636GlyfsTer?)
n.2934_2937del
c.1393_1396del
n.2326_2329del
c.5265_5268del (p.Lys1757GlyfsTer?)
c.5262_5265del (p.Lys1756GlyfsTer?)
c.5154_5157del (p.Lys1720GlyfsTer?)
c.5133_5136del (p.Lys1713GlyfsTer?)
c.4479_4482del (p.Lys1495GlyfsTer?)
c.5427_5430del (p.Lys1811GlyfsTer?)
c.5175_5178del (p.Lys1727GlyfsTer?)
c.3921_3924del (p.Lys1309GlyfsTer?)
 ClinVar dbSNP
16g.2088276C>ACA394314335TSC2c.*3559C>A (n.*3559C>A)
c.5057C>A (p.Pro1686His)
c.5207C>A (p.Pro1736His)
c.*5723C>A (n.*5723C>A)
c.*7959C>A (n.*7959C>A)
c.5210C>A (p.Pro1737His)
c.5141C>A (p.Pro1714His)
c.5009C>A (p.Pro1670His)
c.5042C>A (p.Pro1681His)
c.1433C>A
n.3092C>A
c.3864C>A
c.5069C>A (p.Pro1690His)
n.807C>A
c.5012C>A (p.Pro1671His)
c.5078C>A (p.Pro1693His)
c.5003C>A (p.Pro1668His)
n.2858C>A
c.5135C>A (p.Pro1712His)
c.5081C>A (p.Pro1694His)
c.5096C>A (p.Pro1699His)
c.5006C>A (p.Pro1669His)
c.5131C>A
n.3294C>A
c.5204C>A (p.Pro1735His)
n.4025C>A
n.2462C>A
n.2433C>A
n.2323C>A
c.4865C>A (p.Pro1622His)
c.*4377C>A (n.*4377C>A)
c.4901C>A (p.Pro1634His)
n.2933C>A
c.1392C>A
n.2325C>A
c.5264C>A (p.Pro1755His)
c.5261C>A (p.Pro1754His)
c.5153C>A (p.Pro1718His)
c.5132C>A (p.Pro1711His)
c.4478C>A (p.Pro1493His)
c.5426C>A (p.Pro1809His)
c.5174C>A (p.Pro1725His)
c.3920C>A (p.Pro1307His)
 dbSNP
16g.2088276C=CA2202032066TSC2c.*3559C= (n.*3559C=)
c.5057C= (p.Pro1686=)
c.5207C= (p.Pro1736=)
c.*5723C= (n.*5723C=)
c.*7959C= (n.*7959C=)
c.5210C= (p.Pro1737=)
c.5141C= (p.Pro1714=)
c.5009C= (p.Pro1670=)
c.5042C= (p.Pro1681=)
c.1433C=
n.3092C=
c.3864C=
c.5069C= (p.Pro1690=)
n.807C=
c.5012C= (p.Pro1671=)
c.5078C= (p.Pro1693=)
c.5003C= (p.Pro1668=)
n.2858C=
c.5135C= (p.Pro1712=)
c.5081C= (p.Pro1694=)
c.5096C= (p.Pro1699=)
c.5006C= (p.Pro1669=)
c.5131C=
n.3294C=
c.5204C= (p.Pro1735=)
n.4025C=
n.2462C=
n.2433C=
n.2323C=
c.4865C= (p.Pro1622=)
c.*4377C= (n.*4377C=)
c.4901C= (p.Pro1634=)
n.2933C=
c.1392C=
n.2325C=
c.5264C= (p.Pro1755=)
c.5261C= (p.Pro1754=)
c.5153C= (p.Pro1718=)
c.5132C= (p.Pro1711=)
c.4478C= (p.Pro1493=)
c.5426C= (p.Pro1809=)
c.5174C= (p.Pro1725=)
c.3920C= (p.Pro1307=)
16g.2088276C>GCA394314338TSC2c.*3559C>G (n.*3559C>G)
c.5057C>G (p.Pro1686Arg)
c.5207C>G (p.Pro1736Arg)
c.*5723C>G (n.*5723C>G)
c.*7959C>G (n.*7959C>G)
c.5210C>G (p.Pro1737Arg)
c.5141C>G (p.Pro1714Arg)
c.5009C>G (p.Pro1670Arg)
c.5042C>G (p.Pro1681Arg)
c.1433C>G
n.3092C>G
c.3864C>G
c.5069C>G (p.Pro1690Arg)
n.807C>G
c.5012C>G (p.Pro1671Arg)
c.5078C>G (p.Pro1693Arg)
c.5003C>G (p.Pro1668Arg)
n.2858C>G
c.5135C>G (p.Pro1712Arg)
c.5081C>G (p.Pro1694Arg)
c.5096C>G (p.Pro1699Arg)
c.5006C>G (p.Pro1669Arg)
c.5131C>G
n.3294C>G
c.5204C>G (p.Pro1735Arg)
n.4025C>G
n.2462C>G
n.2433C>G
n.2323C>G
c.4865C>G (p.Pro1622Arg)
c.*4377C>G (n.*4377C>G)
c.4901C>G (p.Pro1634Arg)
n.2933C>G
c.1392C>G
n.2325C>G
c.5264C>G (p.Pro1755Arg)
c.5261C>G (p.Pro1754Arg)
c.5153C>G (p.Pro1718Arg)
c.5132C>G (p.Pro1711Arg)
c.4478C>G (p.Pro1493Arg)
c.5426C>G (p.Pro1809Arg)
c.5174C>G (p.Pro1725Arg)
c.3920C>G (p.Pro1307Arg)
 dbSNP
16g.2088276C>TCA054450TSC2c.*3559C>T (n.*3559C>T)
c.5057C>T (p.Pro1686Leu)
c.5207C>T (p.Pro1736Leu)
c.*5723C>T (n.*5723C>T)
c.*7959C>T (n.*7959C>T)
c.5210C>T (p.Pro1737Leu)
c.5141C>T (p.Pro1714Leu)
c.5009C>T (p.Pro1670Leu)
c.5042C>T (p.Pro1681Leu)
c.1433C>T
n.3092C>T
c.3864C>T
c.5069C>T (p.Pro1690Leu)
n.807C>T
c.5012C>T (p.Pro1671Leu)
c.5078C>T (p.Pro1693Leu)
c.5003C>T (p.Pro1668Leu)
n.2858C>T
c.5135C>T (p.Pro1712Leu)
c.5081C>T (p.Pro1694Leu)
c.5096C>T (p.Pro1699Leu)
c.5006C>T (p.Pro1669Leu)
c.5131C>T
n.3294C>T
c.5204C>T (p.Pro1735Leu)
n.4025C>T
n.2462C>T
n.2433C>T
n.2323C>T
c.4865C>T (p.Pro1622Leu)
c.*4377C>T (n.*4377C>T)
c.4901C>T (p.Pro1634Leu)
n.2933C>T
c.1392C>T
n.2325C>T
c.5264C>T (p.Pro1755Leu)
c.5261C>T (p.Pro1754Leu)
c.5153C>T (p.Pro1718Leu)
c.5132C>T (p.Pro1711Leu)
c.4478C>T (p.Pro1493Leu)
c.5426C>T (p.Pro1809Leu)
c.5174C>T (p.Pro1725Leu)
c.3920C>T (p.Pro1307Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2088277C>ACA054458TSC2c.*3560C>A (n.*3560C>A)
c.5058C>A (p.Pro1686=)
c.5208C>A (p.Pro1736=)
c.*5724C>A (n.*5724C>A)
c.*7960C>A (n.*7960C>A)
c.5211C>A (p.Pro1737=)
c.5142C>A (p.Pro1714=)
c.5010C>A (p.Pro1670=)
c.5043C>A (p.Pro1681=)
c.1434C>A
n.3093C>A
c.3865C>A
c.5070C>A (p.Pro1690=)
n.808C>A
c.5013C>A (p.Pro1671=)
c.5079C>A (p.Pro1693=)
c.5004C>A (p.Pro1668=)
n.2859C>A
c.5136C>A (p.Pro1712=)
c.5082C>A (p.Pro1694=)
c.5097C>A (p.Pro1699=)
c.5007C>A (p.Pro1669=)
c.5132C>A
n.3295C>A
c.5205C>A (p.Pro1735=)
n.4026C>A
n.2463C>A
n.2434C>A
n.2324C>A
c.4866C>A (p.Pro1622=)
c.*4378C>A (n.*4378C>A)
c.4902C>A (p.Pro1634=)
n.2934C>A
c.1393C>A
n.2326C>A
c.5265C>A (p.Pro1755=)
c.5262C>A (p.Pro1754=)
c.5154C>A (p.Pro1718=)
c.5133C>A (p.Pro1711=)
c.4479C>A (p.Pro1493=)
c.5427C>A (p.Pro1809=)
c.5175C>A (p.Pro1725=)
c.3921C>A (p.Pro1307=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2088277C=CA2202032087TSC2c.*3560C= (n.*3560C=)
c.5058C= (p.Pro1686=)
c.5208C= (p.Pro1736=)
c.*5724C= (n.*5724C=)
c.*7960C= (n.*7960C=)
c.5211C= (p.Pro1737=)
c.5142C= (p.Pro1714=)
c.5010C= (p.Pro1670=)
c.5043C= (p.Pro1681=)
c.1434C=
n.3093C=
c.3865C=
c.5070C= (p.Pro1690=)
n.808C=
c.5013C= (p.Pro1671=)
c.5079C= (p.Pro1693=)
c.5004C= (p.Pro1668=)
n.2859C=
c.5136C= (p.Pro1712=)
c.5082C= (p.Pro1694=)
c.5097C= (p.Pro1699=)
c.5007C= (p.Pro1669=)
c.5132C=
n.3295C=
c.5205C= (p.Pro1735=)
n.4026C=
n.2463C=
n.2434C=
n.2324C=
c.4866C= (p.Pro1622=)
c.*4378C= (n.*4378C=)
c.4902C= (p.Pro1634=)
n.2934C=
c.1393C=
n.2326C=
c.5265C= (p.Pro1755=)
c.5262C= (p.Pro1754=)
c.5154C= (p.Pro1718=)
c.5133C= (p.Pro1711=)
c.4479C= (p.Pro1493=)
c.5427C= (p.Pro1809=)
c.5175C= (p.Pro1725=)
c.3921C= (p.Pro1307=)
16g.2088277C>GCA493043787TSC2c.*3560C>G (n.*3560C>G)
c.5058C>G (p.Pro1686=)
c.5208C>G (p.Pro1736=)
c.*5724C>G (n.*5724C>G)
c.*7960C>G (n.*7960C>G)
c.5211C>G (p.Pro1737=)
c.5142C>G (p.Pro1714=)
c.5010C>G (p.Pro1670=)
c.5043C>G (p.Pro1681=)
c.1434C>G
n.3093C>G
c.3865C>G
c.5070C>G (p.Pro1690=)
n.808C>G
c.5013C>G (p.Pro1671=)
c.5079C>G (p.Pro1693=)
c.5004C>G (p.Pro1668=)
n.2859C>G
c.5136C>G (p.Pro1712=)
c.5082C>G (p.Pro1694=)
c.5097C>G (p.Pro1699=)
c.5007C>G (p.Pro1669=)
c.5132C>G
n.3295C>G
c.5205C>G (p.Pro1735=)
n.4026C>G
n.2463C>G
n.2434C>G
n.2324C>G
c.4866C>G (p.Pro1622=)
c.*4378C>G (n.*4378C>G)
c.4902C>G (p.Pro1634=)
n.2934C>G
c.1393C>G
n.2326C>G
c.5265C>G (p.Pro1755=)
c.5262C>G (p.Pro1754=)
c.5154C>G (p.Pro1718=)
c.5133C>G (p.Pro1711=)
c.4479C>G (p.Pro1493=)
c.5427C>G (p.Pro1809=)
c.5175C>G (p.Pro1725=)
c.3921C>G (p.Pro1307=)
 dbSNP
16g.2088277C>TCA054466TSC2c.*3560C>T (n.*3560C>T)
c.5058C>T (p.Pro1686=)
c.5208C>T (p.Pro1736=)
c.*5724C>T (n.*5724C>T)
c.*7960C>T (n.*7960C>T)
c.5211C>T (p.Pro1737=)
c.5142C>T (p.Pro1714=)
c.5010C>T (p.Pro1670=)
c.5043C>T (p.Pro1681=)
c.1434C>T
n.3093C>T
c.3865C>T
c.5070C>T (p.Pro1690=)
n.808C>T
c.5013C>T (p.Pro1671=)
c.5079C>T (p.Pro1693=)
c.5004C>T (p.Pro1668=)
n.2859C>T
c.5136C>T (p.Pro1712=)
c.5082C>T (p.Pro1694=)
c.5097C>T (p.Pro1699=)
c.5007C>T (p.Pro1669=)
c.5132C>T
n.3295C>T
c.5205C>T (p.Pro1735=)
n.4026C>T
n.2463C>T
n.2434C>T
n.2324C>T
c.4866C>T (p.Pro1622=)
c.*4378C>T (n.*4378C>T)
c.4902C>T (p.Pro1634=)
n.2934C>T
c.1393C>T
n.2326C>T
c.5265C>T (p.Pro1755=)
c.5262C>T (p.Pro1754=)
c.5154C>T (p.Pro1718=)
c.5133C>T (p.Pro1711=)
c.4479C>T (p.Pro1493=)
c.5427C>T (p.Pro1809=)
c.5175C>T (p.Pro1725=)
c.3921C>T (p.Pro1307=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2088277_2088278delinsCTCA2202032094TSC2c.*3560_*3561delinsCT (n.*3560_*3561delinsCT)
c.5058_5059delinsCT (p.Pro1686=)
c.5208_5209delinsCT (p.Pro1736=)
c.*5724_*5725delinsCT (n.*5724_*5725delinsCT)
c.*7960_*7961delinsCT (n.*7960_*7961delinsCT)
c.5211_5212delinsCT (p.Pro1737=)
c.5142_5143delinsCT (p.Pro1714=)
c.5010_5011delinsCT (p.Pro1670=)
c.5043_5044delinsCT (p.Pro1681=)
c.1434_1435delinsCT
n.3093_3094delinsCT
c.3865_3866delinsCT
c.5070_5071delinsCT (p.Pro1690=)
n.808_809delinsCT
c.5013_5014delinsCT (p.Pro1671=)
c.5079_5080delinsCT (p.Pro1693=)
c.5004_5005delinsCT (p.Pro1668=)
n.2859_2860delinsCT
c.5136_5137delinsCT (p.Pro1712=)
c.5082_5083delinsCT (p.Pro1694=)
c.5097_5098delinsCT (p.Pro1699=)
c.5007_5008delinsCT (p.Pro1669=)
c.5132_5133delinsCT
n.3295_3296delinsCT
c.5205_5206delinsCT (p.Pro1735=)
n.4026_4027delinsCT
n.2463_2464delinsCT
n.2434_2435delinsCT
n.2324_2325delinsCT
c.4866_4867delinsCT (p.Pro1622=)
c.*4378_*4379delinsCT (n.*4378_*4379delinsCT)
c.4902_4903delinsCT (p.Pro1634=)
n.2934_2935delinsCT
c.1393_1394delinsCT
n.2326_2327delinsCT
c.5265_5266delinsCT (p.Pro1755=)
c.5262_5263delinsCT (p.Pro1754=)
c.5154_5155delinsCT (p.Pro1718=)
c.5133_5134delinsCT (p.Pro1711=)
c.4479_4480delinsCT (p.Pro1493=)
c.5427_5428delinsCT (p.Pro1809=)
c.5175_5176delinsCT (p.Pro1725=)
c.3921_3922delinsCT (p.Pro1307=)
16g.2088278delCA915946266TSC2c.*3561del (n.*3561del)
c.5059del (p.Ser1687ProfsTer?)
c.5209del (p.Ser1737ProfsTer?)
c.*5725del (n.*5725del)
c.*7961del (n.*7961del)
c.5212del (p.Ser1738ProfsTer?)
c.5143del (p.Ser1715ProfsTer?)
c.5011del (p.Ser1671ProfsTer?)
c.5044del (p.Ser1682ProfsTer?)
c.1435del
n.3094del
c.3866del
c.5071del (p.Ser1691ProfsTer?)
n.809del
c.5014del (p.Ser1672ProfsTer?)
c.5080del (p.Ser1694ProfsTer?)
c.5005del (p.Ser1669ProfsTer?)
n.2860del
c.5137del (p.Ser1713ProfsTer?)
c.5083del (p.Ser1695ProfsTer?)
c.5098del (p.Ser1700ProfsTer?)
c.5008del (p.Ser1670ProfsTer?)
c.5133del
n.3296del
c.5206del (p.Ser1736ProfsTer?)
n.4027del
n.2464del
n.2435del
n.2325del
c.4867del (p.Ser1623ProfsTer?)
c.*4379del (n.*4379del)
c.4903del (p.Ser1635ProfsTer?)
n.2935del
c.1394del
n.2327del
c.5266del (p.Ser1756ProfsTer?)
c.5263del (p.Ser1755ProfsTer?)
c.5155del (p.Ser1719ProfsTer?)
c.5134del (p.Ser1712ProfsTer?)
c.4480del (p.Ser1494ProfsTer?)
c.5428del (p.Ser1810ProfsTer?)
c.5176del (p.Ser1726ProfsTer?)
c.3922del (p.Ser1308ProfsTer?)
 ClinVar dbSNP
16g.2088278T>ACA394314359TSC2c.*3561T>A (n.*3561T>A)
c.5059T>A (p.Ser1687Thr)
c.5209T>A (p.Ser1737Thr)
c.*5725T>A (n.*5725T>A)
c.*7961T>A (n.*7961T>A)
c.5212T>A (p.Ser1738Thr)
c.5143T>A (p.Ser1715Thr)
c.5011T>A (p.Ser1671Thr)
c.5044T>A (p.Ser1682Thr)
c.1435T>A
n.3094T>A
c.3866T>A
c.5071T>A (p.Ser1691Thr)
n.809T>A
c.5014T>A (p.Ser1672Thr)
c.5080T>A (p.Ser1694Thr)
c.5005T>A (p.Ser1669Thr)
n.2860T>A
c.5137T>A (p.Ser1713Thr)
c.5083T>A (p.Ser1695Thr)
c.5098T>A (p.Ser1700Thr)
c.5008T>A (p.Ser1670Thr)
c.5133T>A
n.3296T>A
c.5206T>A (p.Ser1736Thr)
n.4027T>A
n.2464T>A
n.2435T>A
n.2325T>A
c.4867T>A (p.Ser1623Thr)
c.*4379T>A (n.*4379T>A)
c.4903T>A (p.Ser1635Thr)
n.2935T>A
c.1394T>A
n.2327T>A
c.5266T>A (p.Ser1756Thr)
c.5263T>A (p.Ser1755Thr)
c.5155T>A (p.Ser1719Thr)
c.5134T>A (p.Ser1712Thr)
c.4480T>A (p.Ser1494Thr)
c.5428T>A (p.Ser1810Thr)
c.5176T>A (p.Ser1726Thr)
c.3922T>A (p.Ser1308Thr)
16g.2088278T>CCA394314362TSC2c.*3561T>C (n.*3561T>C)
c.5059T>C (p.Ser1687Pro)
c.5209T>C (p.Ser1737Pro)
c.*5725T>C (n.*5725T>C)
c.*7961T>C (n.*7961T>C)
c.5212T>C (p.Ser1738Pro)
c.5143T>C (p.Ser1715Pro)
c.5011T>C (p.Ser1671Pro)
c.5044T>C (p.Ser1682Pro)
c.1435T>C
n.3094T>C
c.3866T>C
c.5071T>C (p.Ser1691Pro)
n.809T>C
c.5014T>C (p.Ser1672Pro)
c.5080T>C (p.Ser1694Pro)
c.5005T>C (p.Ser1669Pro)
n.2860T>C
c.5137T>C (p.Ser1713Pro)
c.5083T>C (p.Ser1695Pro)
c.5098T>C (p.Ser1700Pro)
c.5008T>C (p.Ser1670Pro)
c.5133T>C
n.3296T>C
c.5206T>C (p.Ser1736Pro)
n.4027T>C
n.2464T>C
n.2435T>C
n.2325T>C
c.4867T>C (p.Ser1623Pro)
c.*4379T>C (n.*4379T>C)
c.4903T>C (p.Ser1635Pro)
n.2935T>C
c.1394T>C
n.2327T>C
c.5266T>C (p.Ser1756Pro)
c.5263T>C (p.Ser1755Pro)
c.5155T>C (p.Ser1719Pro)
c.5134T>C (p.Ser1712Pro)
c.4480T>C (p.Ser1494Pro)
c.5428T>C (p.Ser1810Pro)
c.5176T>C (p.Ser1726Pro)
c.3922T>C (p.Ser1308Pro)
16g.2088278T>GCA394314375TSC2c.*3561T>G (n.*3561T>G)
c.5059T>G (p.Ser1687Ala)
c.5209T>G (p.Ser1737Ala)
c.*5725T>G (n.*5725T>G)
c.*7961T>G (n.*7961T>G)
c.5212T>G (p.Ser1738Ala)
c.5143T>G (p.Ser1715Ala)
c.5011T>G (p.Ser1671Ala)
c.5044T>G (p.Ser1682Ala)
c.1435T>G
n.3094T>G
c.3866T>G
c.5071T>G (p.Ser1691Ala)
n.809T>G
c.5014T>G (p.Ser1672Ala)
c.5080T>G (p.Ser1694Ala)
c.5005T>G (p.Ser1669Ala)
n.2860T>G
c.5137T>G (p.Ser1713Ala)
c.5083T>G (p.Ser1695Ala)
c.5098T>G (p.Ser1700Ala)
c.5008T>G (p.Ser1670Ala)
c.5133T>G
n.3296T>G
c.5206T>G (p.Ser1736Ala)
n.4027T>G
n.2464T>G
n.2435T>G
n.2325T>G
c.4867T>G (p.Ser1623Ala)
c.*4379T>G (n.*4379T>G)
c.4903T>G (p.Ser1635Ala)
n.2935T>G
c.1394T>G
n.2327T>G
c.5266T>G (p.Ser1756Ala)
c.5263T>G (p.Ser1755Ala)
c.5155T>G (p.Ser1719Ala)
c.5134T>G (p.Ser1712Ala)
c.4480T>G (p.Ser1494Ala)
c.5428T>G (p.Ser1810Ala)
c.5176T>G (p.Ser1726Ala)
c.3922T>G (p.Ser1308Ala)
16g.2088278_2088279delinsTCCA2202032347TSC2c.*3561_*3562delinsTC (n.*3561_*3562delinsTC)
c.5059_5060delinsTC (p.Ser1687=)
c.5209_5210delinsTC (p.Ser1737=)
c.*5725_*5726delinsTC (n.*5725_*5726delinsTC)
c.*7961_*7962delinsTC (n.*7961_*7962delinsTC)
c.5212_5213delinsTC (p.Ser1738=)
c.5143_5144delinsTC (p.Ser1715=)
c.5011_5012delinsTC (p.Ser1671=)
c.5044_5045delinsTC (p.Ser1682=)
c.1435_1436delinsTC
n.3094_3095delinsTC
c.3866_3867delinsTC
c.5071_5072delinsTC (p.Ser1691=)
n.809_810delinsTC
c.5014_5015delinsTC (p.Ser1672=)
c.5080_5081delinsTC (p.Ser1694=)
c.5005_5006delinsTC (p.Ser1669=)
n.2860_2861delinsTC
c.5137_5138delinsTC (p.Ser1713=)
c.5083_5084delinsTC (p.Ser1695=)
c.5098_5099delinsTC (p.Ser1700=)
c.5008_5009delinsTC (p.Ser1670=)
c.5133_5134delinsTC
n.3296_3297delinsTC
c.5206_5207delinsTC (p.Ser1736=)
n.4027_4028delinsTC
n.2464_2465delinsTC
n.2435_2436delinsTC
n.2325_2326delinsTC
c.4867_4868delinsTC (p.Ser1623=)
c.*4379_*4380delinsTC (n.*4379_*4380delinsTC)
c.4903_4904delinsTC (p.Ser1635=)
n.2935_2936delinsTC
c.1394_1395delinsTC
n.2327_2328delinsTC
c.5266_5267delinsTC (p.Ser1756=)
c.5263_5264delinsTC (p.Ser1755=)
c.5155_5156delinsTC (p.Ser1719=)
c.5134_5135delinsTC (p.Ser1712=)
c.4480_4481delinsTC (p.Ser1494=)
c.5428_5429delinsTC (p.Ser1810=)
c.5176_5177delinsTC (p.Ser1726=)
c.3922_3923delinsTC (p.Ser1308=)
16g.2088279C>ACA394314388TSC2c.*3562C>A (n.*3562C>A)
c.5060C>A (p.Ser1687Tyr)
c.5210C>A (p.Ser1737Tyr)
c.*5726C>A (n.*5726C>A)
c.*7962C>A (n.*7962C>A)
c.5213C>A (p.Ser1738Tyr)
c.5144C>A (p.Ser1715Tyr)
c.5012C>A (p.Ser1671Tyr)
c.5045C>A (p.Ser1682Tyr)
c.1436C>A
n.3095C>A
c.3867C>A
c.5072C>A (p.Ser1691Tyr)
n.810C>A
c.5015C>A (p.Ser1672Tyr)
c.5081C>A (p.Ser1694Tyr)
c.5006C>A (p.Ser1669Tyr)
n.2861C>A
c.5138C>A (p.Ser1713Tyr)
c.5084C>A (p.Ser1695Tyr)
c.5099C>A (p.Ser1700Tyr)
c.5009C>A (p.Ser1670Tyr)
c.5134C>A
n.3297C>A
c.5207C>A (p.Ser1736Tyr)
n.4028C>A
n.2465C>A
n.2436C>A
n.2326C>A
c.4868C>A (p.Ser1623Tyr)
c.*4380C>A (n.*4380C>A)
c.4904C>A (p.Ser1635Tyr)
n.2936C>A
c.1395C>A
n.2328C>A
c.5267C>A (p.Ser1756Tyr)
c.5264C>A (p.Ser1755Tyr)
c.5156C>A (p.Ser1719Tyr)
c.5135C>A (p.Ser1712Tyr)
c.4481C>A (p.Ser1494Tyr)
c.5429C>A (p.Ser1810Tyr)
c.5177C>A (p.Ser1726Tyr)
c.3923C>A (p.Ser1308Tyr)
 dbSNP
16g.2088279C>GCA394314391TSC2c.*3562C>G (n.*3562C>G)
c.5060C>G (p.Ser1687Cys)
c.5210C>G (p.Ser1737Cys)
c.*5726C>G (n.*5726C>G)
c.*7962C>G (n.*7962C>G)
c.5213C>G (p.Ser1738Cys)
c.5144C>G (p.Ser1715Cys)
c.5012C>G (p.Ser1671Cys)
c.5045C>G (p.Ser1682Cys)
c.1436C>G
n.3095C>G
c.3867C>G
c.5072C>G (p.Ser1691Cys)
n.810C>G
c.5015C>G (p.Ser1672Cys)
c.5081C>G (p.Ser1694Cys)
c.5006C>G (p.Ser1669Cys)
n.2861C>G
c.5138C>G (p.Ser1713Cys)
c.5084C>G (p.Ser1695Cys)
c.5099C>G (p.Ser1700Cys)
c.5009C>G (p.Ser1670Cys)
c.5134C>G
n.3297C>G
c.5207C>G (p.Ser1736Cys)
n.4028C>G
n.2465C>G
n.2436C>G
n.2326C>G
c.4868C>G (p.Ser1623Cys)
c.*4380C>G (n.*4380C>G)
c.4904C>G (p.Ser1635Cys)
n.2936C>G
c.1395C>G
n.2328C>G
c.5267C>G (p.Ser1756Cys)
c.5264C>G (p.Ser1755Cys)
c.5156C>G (p.Ser1719Cys)
c.5135C>G (p.Ser1712Cys)
c.4481C>G (p.Ser1494Cys)
c.5429C>G (p.Ser1810Cys)
c.5177C>G (p.Ser1726Cys)
c.3923C>G (p.Ser1308Cys)
 ClinVar dbSNP
16g.2088279C>TCA394314394TSC2c.*3562C>T (n.*3562C>T)
c.5060C>T (p.Ser1687Phe)
c.5210C>T (p.Ser1737Phe)
c.*5726C>T (n.*5726C>T)
c.*7962C>T (n.*7962C>T)
c.5213C>T (p.Ser1738Phe)
c.5144C>T (p.Ser1715Phe)
c.5012C>T (p.Ser1671Phe)
c.5045C>T (p.Ser1682Phe)
c.1436C>T
n.3095C>T
c.3867C>T
c.5072C>T (p.Ser1691Phe)
n.810C>T
c.5015C>T (p.Ser1672Phe)
c.5081C>T (p.Ser1694Phe)
c.5006C>T (p.Ser1669Phe)
n.2861C>T
c.5138C>T (p.Ser1713Phe)
c.5084C>T (p.Ser1695Phe)
c.5099C>T (p.Ser1700Phe)
c.5009C>T (p.Ser1670Phe)
c.5134C>T
n.3297C>T
c.5207C>T (p.Ser1736Phe)
n.4028C>T
n.2465C>T
n.2436C>T
n.2326C>T
c.4868C>T (p.Ser1623Phe)
c.*4380C>T (n.*4380C>T)
c.4904C>T (p.Ser1635Phe)
n.2936C>T
c.1395C>T
n.2328C>T
c.5267C>T (p.Ser1756Phe)
c.5264C>T (p.Ser1755Phe)
c.5156C>T (p.Ser1719Phe)
c.5135C>T (p.Ser1712Phe)
c.4481C>T (p.Ser1494Phe)
c.5429C>T (p.Ser1810Phe)
c.5177C>T (p.Ser1726Phe)
c.3923C>T (p.Ser1308Phe)
 dbSNP
16g.2088280dupCA022161TSC2c.*3563dup (n.*3563dup)
c.5061dup (p.Lys1688GlnfsTer?)
c.5211dup (p.Lys1738GlnfsTer?)
c.*5727dup (n.*5727dup)
c.*7963dup (n.*7963dup)
c.5214dup (p.Lys1739GlnfsTer?)
c.5145dup (p.Lys1716GlnfsTer?)
c.5013dup (p.Lys1672GlnfsTer?)
c.5046dup (p.Lys1683GlnfsTer?)
c.1437dup
n.3096dup
c.3868dup
c.5073dup (p.Lys1692GlnfsTer?)
n.811dup
c.5016dup (p.Lys1673GlnfsTer?)
c.5082dup (p.Lys1695GlnfsTer?)
c.5007dup (p.Lys1670GlnfsTer?)
n.2862dup
c.5139dup (p.Lys1714GlnfsTer?)
c.5085dup (p.Lys1696GlnfsTer?)
c.5100dup (p.Lys1701GlnfsTer?)
c.5010dup (p.Lys1671GlnfsTer?)
c.5135dup
n.3298dup
c.5208dup (p.Lys1737GlnfsTer?)
n.4029dup
n.2466dup
n.2437dup
n.2327dup
c.4869dup (p.Lys1624GlnfsTer?)
c.*4381dup (n.*4381dup)
c.4905dup (p.Lys1636GlnfsTer?)
n.2937dup
c.1396dup
n.2329dup
c.5268dup (p.Lys1757GlnfsTer?)
c.5265dup (p.Lys1756GlnfsTer?)
c.5157dup (p.Lys1720GlnfsTer?)
c.5136dup (p.Lys1713GlnfsTer?)
c.4482dup (p.Lys1495GlnfsTer?)
c.5430dup (p.Lys1811GlnfsTer?)
c.5178dup (p.Lys1727GlnfsTer?)
c.3924dup (p.Lys1309GlnfsTer?)
 ClinVar dbSNP
16g.2088280delCA16620105TSC2c.*3563del (n.*3563del)
c.5061del (p.Lys1688SerfsTer?)
c.5211del (p.Lys1738SerfsTer?)
c.*5727del (n.*5727del)
c.*7963del (n.*7963del)
c.5214del (p.Lys1739SerfsTer?)
c.5145del (p.Lys1716SerfsTer?)
c.5013del (p.Lys1672SerfsTer?)
c.5046del (p.Lys1683SerfsTer?)
c.1437del
n.3096del
c.3868del
c.5073del (p.Lys1692SerfsTer?)
n.811del
c.5016del (p.Lys1673SerfsTer?)
c.5082del (p.Lys1695SerfsTer?)
c.5007del (p.Lys1670SerfsTer?)
n.2862del
c.5139del (p.Lys1714SerfsTer?)
c.5085del (p.Lys1696SerfsTer?)
c.5100del (p.Lys1701SerfsTer?)
c.5010del (p.Lys1671SerfsTer?)
c.5135del
n.3298del
c.5208del (p.Lys1737SerfsTer?)
n.4029del
n.2466del
n.2437del
n.2327del
c.4869del (p.Lys1624SerfsTer?)
c.*4381del (n.*4381del)
c.4905del (p.Lys1636SerfsTer?)
n.2937del
c.1396del
n.2329del
c.5268del (p.Lys1757SerfsTer?)
c.5265del (p.Lys1756SerfsTer?)
c.5157del (p.Lys1720SerfsTer?)
c.5136del (p.Lys1713SerfsTer?)
c.4482del (p.Lys1495SerfsTer?)
c.5430del (p.Lys1811SerfsTer?)
c.5178del (p.Lys1727SerfsTer?)
c.3924del (p.Lys1309SerfsTer?)
 ClinVar dbSNP
16g.2088280C>ACA493043793TSC2c.*3563C>A (n.*3563C>A)
c.5061C>A (p.Ser1687=)
c.5211C>A (p.Ser1737=)
c.*5727C>A (n.*5727C>A)
c.*7963C>A (n.*7963C>A)
c.5214C>A (p.Ser1738=)
c.5145C>A (p.Ser1715=)
c.5013C>A (p.Ser1671=)
c.5046C>A (p.Ser1682=)
c.1437C>A
n.3096C>A
c.3868C>A
c.5073C>A (p.Ser1691=)
n.811C>A
c.5016C>A (p.Ser1672=)
c.5082C>A (p.Ser1694=)
c.5007C>A (p.Ser1669=)
n.2862C>A
c.5139C>A (p.Ser1713=)
c.5085C>A (p.Ser1695=)
c.5100C>A (p.Ser1700=)
c.5010C>A (p.Ser1670=)
c.5135C>A
n.3298C>A
c.5208C>A (p.Ser1736=)
n.4029C>A
n.2466C>A
n.2437C>A
n.2327C>A
c.4869C>A (p.Ser1623=)
c.*4381C>A (n.*4381C>A)
c.4905C>A (p.Ser1635=)
n.2937C>A
c.1396C>A
n.2329C>A
c.5268C>A (p.Ser1756=)
c.5265C>A (p.Ser1755=)
c.5157C>A (p.Ser1719=)
c.5136C>A (p.Ser1712=)
c.4482C>A (p.Ser1494=)
c.5430C>A (p.Ser1810=)
c.5178C>A (p.Ser1726=)
c.3924C>A (p.Ser1308=)
 ClinVar dbSNP gnomAD v4
16g.2088280C=CA2202032369TSC2c.*3563C= (n.*3563C=)
c.5061C= (p.Ser1687=)
c.5211C= (p.Ser1737=)
c.*5727C= (n.*5727C=)
c.*7963C= (n.*7963C=)
c.5214C= (p.Ser1738=)
c.5145C= (p.Ser1715=)
c.5013C= (p.Ser1671=)
c.5046C= (p.Ser1682=)
c.1437C=
n.3096C=
c.3868C=
c.5073C= (p.Ser1691=)
n.811C=
c.5016C= (p.Ser1672=)
c.5082C= (p.Ser1694=)
c.5007C= (p.Ser1669=)
n.2862C=
c.5139C= (p.Ser1713=)
c.5085C= (p.Ser1695=)
c.5100C= (p.Ser1700=)
c.5010C= (p.Ser1670=)
c.5135C=
n.3298C=
c.5208C= (p.Ser1736=)
n.4029C=
n.2466C=
n.2437C=
n.2327C=
c.4869C= (p.Ser1623=)
c.*4381C= (n.*4381C=)
c.4905C= (p.Ser1635=)
n.2937C=
c.1396C=
n.2329C=
c.5268C= (p.Ser1756=)
c.5265C= (p.Ser1755=)
c.5157C= (p.Ser1719=)
c.5136C= (p.Ser1712=)
c.4482C= (p.Ser1494=)
c.5430C= (p.Ser1810=)
c.5178C= (p.Ser1726=)
c.3924C= (p.Ser1308=)
16g.2088280C>GCA493043794TSC2c.*3563C>G (n.*3563C>G)
c.5061C>G (p.Ser1687=)
c.5211C>G (p.Ser1737=)
c.*5727C>G (n.*5727C>G)
c.*7963C>G (n.*7963C>G)
c.5214C>G (p.Ser1738=)
c.5145C>G (p.Ser1715=)
c.5013C>G (p.Ser1671=)
c.5046C>G (p.Ser1682=)
c.1437C>G
n.3096C>G
c.3868C>G
c.5073C>G (p.Ser1691=)
n.811C>G
c.5016C>G (p.Ser1672=)
c.5082C>G (p.Ser1694=)
c.5007C>G (p.Ser1669=)
n.2862C>G
c.5139C>G (p.Ser1713=)
c.5085C>G (p.Ser1695=)
c.5100C>G (p.Ser1700=)
c.5010C>G (p.Ser1670=)
c.5135C>G
n.3298C>G
c.5208C>G (p.Ser1736=)
n.4029C>G
n.2466C>G
n.2437C>G
n.2327C>G
c.4869C>G (p.Ser1623=)
c.*4381C>G (n.*4381C>G)
c.4905C>G (p.Ser1635=)
n.2937C>G
c.1396C>G
n.2329C>G
c.5268C>G (p.Ser1756=)
c.5265C>G (p.Ser1755=)
c.5157C>G (p.Ser1719=)
c.5136C>G (p.Ser1712=)
c.4482C>G (p.Ser1494=)
c.5430C>G (p.Ser1810=)
c.5178C>G (p.Ser1726=)
c.3924C>G (p.Ser1308=)
 ClinVar dbSNP gnomAD v4
16g.2088280C>TCA054477TSC2c.*3563C>T (n.*3563C>T)
c.5061C>T (p.Ser1687=)
c.5211C>T (p.Ser1737=)
c.*5727C>T (n.*5727C>T)
c.*7963C>T (n.*7963C>T)
c.5214C>T (p.Ser1738=)
c.5145C>T (p.Ser1715=)
c.5013C>T (p.Ser1671=)
c.5046C>T (p.Ser1682=)
c.1437C>T
n.3096C>T
c.3868C>T
c.5073C>T (p.Ser1691=)
n.811C>T
c.5016C>T (p.Ser1672=)
c.5082C>T (p.Ser1694=)
c.5007C>T (p.Ser1669=)
n.2862C>T
c.5139C>T (p.Ser1713=)
c.5085C>T (p.Ser1695=)
c.5100C>T (p.Ser1700=)
c.5010C>T (p.Ser1670=)
c.5135C>T
n.3298C>T
c.5208C>T (p.Ser1736=)
n.4029C>T
n.2466C>T
n.2437C>T
n.2327C>T
c.4869C>T (p.Ser1623=)
c.*4381C>T (n.*4381C>T)
c.4905C>T (p.Ser1635=)
n.2937C>T
c.1396C>T
n.2329C>T
c.5268C>T (p.Ser1756=)
c.5265C>T (p.Ser1755=)
c.5157C>T (p.Ser1719=)
c.5136C>T (p.Ser1712=)
c.4482C>T (p.Ser1494=)
c.5430C>T (p.Ser1810=)
c.5178C>T (p.Ser1726=)
c.3924C>T (p.Ser1308=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2088281A>CCA394314407TSC2c.*3564A>C (n.*3564A>C)
c.5062A>C (p.Lys1688Gln)
c.5212A>C (p.Lys1738Gln)
c.*5728A>C (n.*5728A>C)
c.*7964A>C (n.*7964A>C)
c.5215A>C (p.Lys1739Gln)
c.5146A>C (p.Lys1716Gln)
c.5014A>C (p.Lys1672Gln)
c.5047A>C (p.Lys1683Gln)
c.1438A>C
n.3097A>C
c.3869A>C
c.5074A>C (p.Lys1692Gln)
n.812A>C
c.5017A>C (p.Lys1673Gln)
c.5083A>C (p.Lys1695Gln)
c.5008A>C (p.Lys1670Gln)
n.2863A>C
c.5140A>C (p.Lys1714Gln)
c.5086A>C (p.Lys1696Gln)
c.5101A>C (p.Lys1701Gln)
c.5011A>C (p.Lys1671Gln)
c.5136A>C
n.3299A>C
c.5209A>C (p.Lys1737Gln)
n.4030A>C
n.2467A>C
n.2438A>C
n.2328A>C
c.4870A>C (p.Lys1624Gln)
c.*4382A>C (n.*4382A>C)
c.4906A>C (p.Lys1636Gln)
n.2938A>C
c.1397A>C
n.2330A>C
c.5269A>C (p.Lys1757Gln)
c.5266A>C (p.Lys1756Gln)
c.5158A>C (p.Lys1720Gln)
c.5137A>C (p.Lys1713Gln)
c.4483A>C (p.Lys1495Gln)
c.5431A>C (p.Lys1811Gln)
c.5179A>C (p.Lys1727Gln)
c.3925A>C (p.Lys1309Gln)
16g.2088281A>GCA394314411TSC2c.*3564A>G (n.*3564A>G)
c.5062A>G (p.Lys1688Glu)
c.5212A>G (p.Lys1738Glu)
c.*5728A>G (n.*5728A>G)
c.*7964A>G (n.*7964A>G)
c.5215A>G (p.Lys1739Glu)
c.5146A>G (p.Lys1716Glu)
c.5014A>G (p.Lys1672Glu)
c.5047A>G (p.Lys1683Glu)
c.1438A>G
n.3097A>G
c.3869A>G
c.5074A>G (p.Lys1692Glu)
n.812A>G
c.5017A>G (p.Lys1673Glu)
c.5083A>G (p.Lys1695Glu)
c.5008A>G (p.Lys1670Glu)
n.2863A>G
c.5140A>G (p.Lys1714Glu)
c.5086A>G (p.Lys1696Glu)
c.5101A>G (p.Lys1701Glu)
c.5011A>G (p.Lys1671Glu)
c.5136A>G
n.3299A>G
c.5209A>G (p.Lys1737Glu)
n.4030A>G
n.2467A>G
n.2438A>G
n.2328A>G
c.4870A>G (p.Lys1624Glu)
c.*4382A>G (n.*4382A>G)
c.4906A>G (p.Lys1636Glu)
n.2938A>G
c.1397A>G
n.2330A>G
c.5269A>G (p.Lys1757Glu)
c.5266A>G (p.Lys1756Glu)
c.5158A>G (p.Lys1720Glu)
c.5137A>G (p.Lys1713Glu)
c.4483A>G (p.Lys1495Glu)
c.5431A>G (p.Lys1811Glu)
c.5179A>G (p.Lys1727Glu)
c.3925A>G (p.Lys1309Glu)
 ClinVar dbSNP gnomAD v4
16g.2088281A>TCA394314414TSC2c.*3564A>T (n.*3564A>T)
c.5062A>T (p.Lys1688Ter)
c.5212A>T (p.Lys1738Ter)
c.*5728A>T (n.*5728A>T)
c.*7964A>T (n.*7964A>T)
c.5215A>T (p.Lys1739Ter)
c.5146A>T (p.Lys1716Ter)
c.5014A>T (p.Lys1672Ter)
c.5047A>T (p.Lys1683Ter)
c.1438A>T
n.3097A>T
c.3869A>T
c.5074A>T (p.Lys1692Ter)
n.812A>T
c.5017A>T (p.Lys1673Ter)
c.5083A>T (p.Lys1695Ter)
c.5008A>T (p.Lys1670Ter)
n.2863A>T
c.5140A>T (p.Lys1714Ter)
c.5086A>T (p.Lys1696Ter)
c.5101A>T (p.Lys1701Ter)
c.5011A>T (p.Lys1671Ter)
c.5136A>T
n.3299A>T
c.5209A>T (p.Lys1737Ter)
n.4030A>T
n.2467A>T
n.2438A>T
n.2328A>T
c.4870A>T (p.Lys1624Ter)
c.*4382A>T (n.*4382A>T)
c.4906A>T (p.Lys1636Ter)
n.2938A>T
c.1397A>T
n.2330A>T
c.5269A>T (p.Lys1757Ter)
c.5266A>T (p.Lys1756Ter)
c.5158A>T (p.Lys1720Ter)
c.5137A>T (p.Lys1713Ter)
c.4483A>T (p.Lys1495Ter)
c.5431A>T (p.Lys1811Ter)
c.5179A>T (p.Lys1727Ter)
c.3925A>T (p.Lys1309Ter)
 dbSNP
16g.2088282A>CCA394314418TSC2c.*3565A>C (n.*3565A>C)
c.5063A>C (p.Lys1688Thr)
c.5213A>C (p.Lys1738Thr)
c.*5729A>C (n.*5729A>C)
c.*7965A>C (n.*7965A>C)
c.5216A>C (p.Lys1739Thr)
c.5147A>C (p.Lys1716Thr)
c.5015A>C (p.Lys1672Thr)
c.5048A>C (p.Lys1683Thr)
c.1439A>C
n.3098A>C
c.3870A>C
c.5075A>C (p.Lys1692Thr)
n.813A>C
c.5018A>C (p.Lys1673Thr)
c.5084A>C (p.Lys1695Thr)
c.5009A>C (p.Lys1670Thr)
n.2864A>C
c.5141A>C (p.Lys1714Thr)
c.5087A>C (p.Lys1696Thr)
c.5102A>C (p.Lys1701Thr)
c.5012A>C (p.Lys1671Thr)
c.5137A>C
n.3300A>C
c.5210A>C (p.Lys1737Thr)
n.4031A>C
n.2468A>C
n.2439A>C
n.2329A>C
c.4871A>C (p.Lys1624Thr)
c.*4383A>C (n.*4383A>C)
c.4907A>C (p.Lys1636Thr)
n.2939A>C
c.1398A>C
n.2331A>C
c.5270A>C (p.Lys1757Thr)
c.5267A>C (p.Lys1756Thr)
c.5159A>C (p.Lys1720Thr)
c.5138A>C (p.Lys1713Thr)
c.4484A>C (p.Lys1495Thr)
c.5432A>C (p.Lys1811Thr)
c.5180A>C (p.Lys1727Thr)
c.3926A>C (p.Lys1309Thr)
 ClinVar dbSNP
16g.2088282A>GCA394314420TSC2c.*3565A>G (n.*3565A>G)
c.5063A>G (p.Lys1688Arg)
c.5213A>G (p.Lys1738Arg)
c.*5729A>G (n.*5729A>G)
c.*7965A>G (n.*7965A>G)
c.5216A>G (p.Lys1739Arg)
c.5147A>G (p.Lys1716Arg)
c.5015A>G (p.Lys1672Arg)
c.5048A>G (p.Lys1683Arg)
c.1439A>G
n.3098A>G
c.3870A>G
c.5075A>G (p.Lys1692Arg)
n.813A>G
c.5018A>G (p.Lys1673Arg)
c.5084A>G (p.Lys1695Arg)
c.5009A>G (p.Lys1670Arg)
n.2864A>G
c.5141A>G (p.Lys1714Arg)
c.5087A>G (p.Lys1696Arg)
c.5102A>G (p.Lys1701Arg)
c.5012A>G (p.Lys1671Arg)
c.5137A>G
n.3300A>G
c.5210A>G (p.Lys1737Arg)
n.4031A>G
n.2468A>G
n.2439A>G
n.2329A>G
c.4871A>G (p.Lys1624Arg)
c.*4383A>G (n.*4383A>G)
c.4907A>G (p.Lys1636Arg)
n.2939A>G
c.1398A>G
n.2331A>G
c.5270A>G (p.Lys1757Arg)
c.5267A>G (p.Lys1756Arg)
c.5159A>G (p.Lys1720Arg)
c.5138A>G (p.Lys1713Arg)
c.4484A>G (p.Lys1495Arg)
c.5432A>G (p.Lys1811Arg)
c.5180A>G (p.Lys1727Arg)
c.3926A>G (p.Lys1309Arg)
 gnomAD v4
16g.2088282A>TCA394314421TSC2c.*3565A>T (n.*3565A>T)
c.5063A>T (p.Lys1688Met)
c.5213A>T (p.Lys1738Met)
c.*5729A>T (n.*5729A>T)
c.*7965A>T (n.*7965A>T)
c.5216A>T (p.Lys1739Met)
c.5147A>T (p.Lys1716Met)
c.5015A>T (p.Lys1672Met)
c.5048A>T (p.Lys1683Met)
c.1439A>T
n.3098A>T
c.3870A>T
c.5075A>T (p.Lys1692Met)
n.813A>T
c.5018A>T (p.Lys1673Met)
c.5084A>T (p.Lys1695Met)
c.5009A>T (p.Lys1670Met)
n.2864A>T
c.5141A>T (p.Lys1714Met)
c.5087A>T (p.Lys1696Met)
c.5102A>T (p.Lys1701Met)
c.5012A>T (p.Lys1671Met)
c.5137A>T
n.3300A>T
c.5210A>T (p.Lys1737Met)
n.4031A>T
n.2468A>T
n.2439A>T
n.2329A>T
c.4871A>T (p.Lys1624Met)
c.*4383A>T (n.*4383A>T)
c.4907A>T (p.Lys1636Met)
n.2939A>T
c.1398A>T
n.2331A>T
c.5270A>T (p.Lys1757Met)
c.5267A>T (p.Lys1756Met)
c.5159A>T (p.Lys1720Met)
c.5138A>T (p.Lys1713Met)
c.4484A>T (p.Lys1495Met)
c.5432A>T (p.Lys1811Met)
c.5180A>T (p.Lys1727Met)
c.3926A>T (p.Lys1309Met)
 dbSNP
16g.2088283G>ACA493043800TSC2c.*3566G>A (n.*3566G>A)
c.5064G>A (p.Lys1688=)
c.5214G>A (p.Lys1738=)
c.*5730G>A (n.*5730G>A)
c.*7966G>A (n.*7966G>A)
c.5217G>A (p.Lys1739=)
c.5148G>A (p.Lys1716=)
c.5016G>A (p.Lys1672=)
c.5049G>A (p.Lys1683=)
c.1440G>A
n.3099G>A
c.3871G>A
c.5076G>A (p.Lys1692=)
n.814G>A
c.5019G>A (p.Lys1673=)
c.5085G>A (p.Lys1695=)
c.5010G>A (p.Lys1670=)
n.2865G>A
c.5142G>A (p.Lys1714=)
c.5088G>A (p.Lys1696=)
c.5103G>A (p.Lys1701=)
c.5013G>A (p.Lys1671=)
c.5138G>A
n.3301G>A
c.5211G>A (p.Lys1737=)
n.4032G>A
n.2469G>A
n.2440G>A
n.2330G>A
c.4872G>A (p.Lys1624=)
c.*4384G>A (n.*4384G>A)
c.4908G>A (p.Lys1636=)
n.2940G>A
c.1399G>A
n.2332G>A
c.5271G>A (p.Lys1757=)
c.5268G>A (p.Lys1756=)
c.5160G>A (p.Lys1720=)
c.5139G>A (p.Lys1713=)
c.4485G>A (p.Lys1495=)
c.5433G>A (p.Lys1811=)
c.5181G>A (p.Lys1727=)
c.3927G>A (p.Lys1309=)
 ClinVar dbSNP gnomAD v4
16g.2088283G>CCA394314423TSC2c.*3566G>C (n.*3566G>C)
c.5064G>C (p.Lys1688Asn)
c.5214G>C (p.Lys1738Asn)
c.*5730G>C (n.*5730G>C)
c.*7966G>C (n.*7966G>C)
c.5217G>C (p.Lys1739Asn)
c.5148G>C (p.Lys1716Asn)
c.5016G>C (p.Lys1672Asn)
c.5049G>C (p.Lys1683Asn)
c.1440G>C
n.3099G>C
c.3871G>C
c.5076G>C (p.Lys1692Asn)
n.814G>C
c.5019G>C (p.Lys1673Asn)
c.5085G>C (p.Lys1695Asn)
c.5010G>C (p.Lys1670Asn)
n.2865G>C
c.5142G>C (p.Lys1714Asn)
c.5088G>C (p.Lys1696Asn)
c.5103G>C (p.Lys1701Asn)
c.5013G>C (p.Lys1671Asn)
c.5138G>C
n.3301G>C
c.5211G>C (p.Lys1737Asn)
n.4032G>C
n.2469G>C
n.2440G>C
n.2330G>C
c.4872G>C (p.Lys1624Asn)
c.*4384G>C (n.*4384G>C)
c.4908G>C (p.Lys1636Asn)
n.2940G>C
c.1399G>C
n.2332G>C
c.5271G>C (p.Lys1757Asn)
c.5268G>C (p.Lys1756Asn)
c.5160G>C (p.Lys1720Asn)
c.5139G>C (p.Lys1713Asn)
c.4485G>C (p.Lys1495Asn)
c.5433G>C (p.Lys1811Asn)
c.5181G>C (p.Lys1727Asn)
c.3927G>C (p.Lys1309Asn)
 dbSNP
16g.2088283G=CA2202032378TSC2c.*3566G= (n.*3566G=)
c.5064G= (p.Lys1688=)
c.5214G= (p.Lys1738=)
c.*5730G= (n.*5730G=)
c.*7966G= (n.*7966G=)
c.5217G= (p.Lys1739=)
c.5148G= (p.Lys1716=)
c.5016G= (p.Lys1672=)
c.5049G= (p.Lys1683=)
c.1440G=
n.3099G=
c.3871G=
c.5076G= (p.Lys1692=)
n.814G=
c.5019G= (p.Lys1673=)
c.5085G= (p.Lys1695=)
c.5010G= (p.Lys1670=)
n.2865G=
c.5142G= (p.Lys1714=)
c.5088G= (p.Lys1696=)
c.5103G= (p.Lys1701=)
c.5013G= (p.Lys1671=)
c.5138G=
n.3301G=
c.5211G= (p.Lys1737=)
n.4032G=
n.2469G=
n.2440G=
n.2330G=
c.4872G= (p.Lys1624=)
c.*4384G= (n.*4384G=)
c.4908G= (p.Lys1636=)
n.2940G=
c.1399G=
n.2332G=
c.5271G= (p.Lys1757=)
c.5268G= (p.Lys1756=)
c.5160G= (p.Lys1720=)
c.5139G= (p.Lys1713=)
c.4485G= (p.Lys1495=)
c.5433G= (p.Lys1811=)
c.5181G= (p.Lys1727=)
c.3927G= (p.Lys1309=)
16g.2088283G>TCA394314426TSC2c.*3566G>T (n.*3566G>T)
c.5064G>T (p.Lys1688Asn)
c.5214G>T (p.Lys1738Asn)
c.*5730G>T (n.*5730G>T)
c.*7966G>T (n.*7966G>T)
c.5217G>T (p.Lys1739Asn)
c.5148G>T (p.Lys1716Asn)
c.5016G>T (p.Lys1672Asn)
c.5049G>T (p.Lys1683Asn)
c.1440G>T
n.3099G>T
c.3871G>T
c.5076G>T (p.Lys1692Asn)
n.814G>T
c.5019G>T (p.Lys1673Asn)
c.5085G>T (p.Lys1695Asn)
c.5010G>T (p.Lys1670Asn)
n.2865G>T
c.5142G>T (p.Lys1714Asn)
c.5088G>T (p.Lys1696Asn)
c.5103G>T (p.Lys1701Asn)
c.5013G>T (p.Lys1671Asn)
c.5138G>T
n.3301G>T
c.5211G>T (p.Lys1737Asn)
n.4032G>T
n.2469G>T
n.2440G>T
n.2330G>T
c.4872G>T (p.Lys1624Asn)
c.*4384G>T (n.*4384G>T)
c.4908G>T (p.Lys1636Asn)
n.2940G>T
c.1399G>T
n.2332G>T
c.5271G>T (p.Lys1757Asn)
c.5268G>T (p.Lys1756Asn)
c.5160G>T (p.Lys1720Asn)
c.5139G>T (p.Lys1713Asn)
c.4485G>T (p.Lys1495Asn)
c.5433G>T (p.Lys1811Asn)
c.5181G>T (p.Lys1727Asn)
c.3927G>T (p.Lys1309Asn)
16g.2088284T>ACA394314451TSC2c.*3567T>A (n.*3567T>A)
c.5065T>A (p.Trp1689Arg)
c.5215T>A (p.Trp1739Arg)
c.*5731T>A (n.*5731T>A)
c.*7967T>A (n.*7967T>A)
c.5218T>A (p.Trp1740Arg)
c.5149T>A (p.Trp1717Arg)
c.5017T>A (p.Trp1673Arg)
c.5050T>A (p.Trp1684Arg)
c.1441T>A
n.3100T>A
c.3872T>A
c.5077T>A (p.Trp1693Arg)
n.815T>A
c.5020T>A (p.Trp1674Arg)
c.5086T>A (p.Trp1696Arg)
c.5011T>A (p.Trp1671Arg)
n.2866T>A
c.5143T>A (p.Trp1715Arg)
c.5089T>A (p.Trp1697Arg)
c.5104T>A (p.Trp1702Arg)
c.5014T>A (p.Trp1672Arg)
c.5139T>A
n.3302T>A
c.5212T>A (p.Trp1738Arg)
n.4033T>A
n.2470T>A
n.2441T>A
n.2331T>A
c.4873T>A (p.Trp1625Arg)
c.*4385T>A (n.*4385T>A)
c.4909T>A (p.Trp1637Arg)
n.2941T>A
c.1400T>A
n.2333T>A
c.5272T>A (p.Trp1758Arg)
c.5269T>A (p.Trp1757Arg)
c.5161T>A (p.Trp1721Arg)
c.5140T>A (p.Trp1714Arg)
c.4486T>A (p.Trp1496Arg)
c.5434T>A (p.Trp1812Arg)
c.5182T>A (p.Trp1728Arg)
c.3928T>A (p.Trp1310Arg)
16g.2088284T>CCA394314456TSC2c.*3567T>C (n.*3567T>C)
c.5065T>C (p.Trp1689Arg)
c.5215T>C (p.Trp1739Arg)
c.*5731T>C (n.*5731T>C)
c.*7967T>C (n.*7967T>C)
c.5218T>C (p.Trp1740Arg)
c.5149T>C (p.Trp1717Arg)
c.5017T>C (p.Trp1673Arg)
c.5050T>C (p.Trp1684Arg)
c.1441T>C
n.3100T>C
c.3872T>C
c.5077T>C (p.Trp1693Arg)
n.815T>C
c.5020T>C (p.Trp1674Arg)
c.5086T>C (p.Trp1696Arg)
c.5011T>C (p.Trp1671Arg)
n.2866T>C
c.5143T>C (p.Trp1715Arg)
c.5089T>C (p.Trp1697Arg)
c.5104T>C (p.Trp1702Arg)
c.5014T>C (p.Trp1672Arg)
c.5139T>C
n.3302T>C
c.5212T>C (p.Trp1738Arg)
n.4033T>C
n.2470T>C
n.2441T>C
n.2331T>C
c.4873T>C (p.Trp1625Arg)
c.*4385T>C (n.*4385T>C)
c.4909T>C (p.Trp1637Arg)
n.2941T>C
c.1400T>C
n.2333T>C
c.5272T>C (p.Trp1758Arg)
c.5269T>C (p.Trp1757Arg)
c.5161T>C (p.Trp1721Arg)
c.5140T>C (p.Trp1714Arg)
c.4486T>C (p.Trp1496Arg)
c.5434T>C (p.Trp1812Arg)
c.5182T>C (p.Trp1728Arg)
c.3928T>C (p.Trp1310Arg)
16g.2088284T>GCA394314449TSC2c.*3567T>G (n.*3567T>G)
c.5065T>G (p.Trp1689Gly)
c.5215T>G (p.Trp1739Gly)
c.*5731T>G (n.*5731T>G)
c.*7967T>G (n.*7967T>G)
c.5218T>G (p.Trp1740Gly)
c.5149T>G (p.Trp1717Gly)
c.5017T>G (p.Trp1673Gly)
c.5050T>G (p.Trp1684Gly)
c.1441T>G
n.3100T>G
c.3872T>G
c.5077T>G (p.Trp1693Gly)
n.815T>G
c.5020T>G (p.Trp1674Gly)
c.5086T>G (p.Trp1696Gly)
c.5011T>G (p.Trp1671Gly)
n.2866T>G
c.5143T>G (p.Trp1715Gly)
c.5089T>G (p.Trp1697Gly)
c.5104T>G (p.Trp1702Gly)
c.5014T>G (p.Trp1672Gly)
c.5139T>G
n.3302T>G
c.5212T>G (p.Trp1738Gly)
n.4033T>G
n.2470T>G
n.2441T>G
n.2331T>G
c.4873T>G (p.Trp1625Gly)
c.*4385T>G (n.*4385T>G)
c.4909T>G (p.Trp1637Gly)
n.2941T>G
c.1400T>G
n.2333T>G
c.5272T>G (p.Trp1758Gly)
c.5269T>G (p.Trp1757Gly)
c.5161T>G (p.Trp1721Gly)
c.5140T>G (p.Trp1714Gly)
c.4486T>G (p.Trp1496Gly)
c.5434T>G (p.Trp1812Gly)
c.5182T>G (p.Trp1728Gly)
c.3928T>G (p.Trp1310Gly)
16g.2088285G>ACA022169TSC2c.*3568G>A (n.*3568G>A)
c.5066G>A (p.Trp1689Ter)
c.5216G>A (p.Trp1739Ter)
c.*5732G>A (n.*5732G>A)
c.*7968G>A (n.*7968G>A)
c.5219G>A (p.Trp1740Ter)
c.5150G>A (p.Trp1717Ter)
c.5018G>A (p.Trp1673Ter)
c.5051G>A (p.Trp1684Ter)
c.1442G>A
n.3101G>A
c.3873G>A
c.5078G>A (p.Trp1693Ter)
n.816G>A
c.5021G>A (p.Trp1674Ter)
c.5087G>A (p.Trp1696Ter)
c.5012G>A (p.Trp1671Ter)
n.2867G>A
c.5144G>A (p.Trp1715Ter)
c.5090G>A (p.Trp1697Ter)
c.5105G>A (p.Trp1702Ter)
c.5015G>A (p.Trp1672Ter)
c.5140G>A
n.3303G>A
c.5213G>A (p.Trp1738Ter)
n.4034G>A
n.2471G>A
n.2442G>A
n.2332G>A
c.4874G>A (p.Trp1625Ter)
c.*4386G>A (n.*4386G>A)
c.4910G>A (p.Trp1637Ter)
n.2942G>A
c.1401G>A
n.2334G>A
c.5273G>A (p.Trp1758Ter)
c.5270G>A (p.Trp1757Ter)
c.5162G>A (p.Trp1721Ter)
c.5141G>A (p.Trp1714Ter)
c.4487G>A (p.Trp1496Ter)
c.5435G>A (p.Trp1812Ter)
c.5183G>A (p.Trp1728Ter)
c.3929G>A (p.Trp1310Ter)
 ClinVar dbSNP
16g.2088285G>CCA394314459TSC2c.*3568G>C (n.*3568G>C)
c.5066G>C (p.Trp1689Ser)
c.5216G>C (p.Trp1739Ser)
c.*5732G>C (n.*5732G>C)
c.*7968G>C (n.*7968G>C)
c.5219G>C (p.Trp1740Ser)
c.5150G>C (p.Trp1717Ser)
c.5018G>C (p.Trp1673Ser)
c.5051G>C (p.Trp1684Ser)
c.1442G>C
n.3101G>C
c.3873G>C
c.5078G>C (p.Trp1693Ser)
n.816G>C
c.5021G>C (p.Trp1674Ser)
c.5087G>C (p.Trp1696Ser)
c.5012G>C (p.Trp1671Ser)
n.2867G>C
c.5144G>C (p.Trp1715Ser)
c.5090G>C (p.Trp1697Ser)
c.5105G>C (p.Trp1702Ser)
c.5015G>C (p.Trp1672Ser)
c.5140G>C
n.3303G>C
c.5213G>C (p.Trp1738Ser)
n.4034G>C
n.2471G>C
n.2442G>C
n.2332G>C
c.4874G>C (p.Trp1625Ser)
c.*4386G>C (n.*4386G>C)
c.4910G>C (p.Trp1637Ser)
n.2942G>C
c.1401G>C
n.2334G>C
c.5273G>C (p.Trp1758Ser)
c.5270G>C (p.Trp1757Ser)
c.5162G>C (p.Trp1721Ser)
c.5141G>C (p.Trp1714Ser)
c.4487G>C (p.Trp1496Ser)
c.5435G>C (p.Trp1812Ser)
c.5183G>C (p.Trp1728Ser)
c.3929G>C (p.Trp1310Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2088285G=CA2202032389TSC2c.*3568G= (n.*3568G=)
c.5066G= (p.Trp1689=)
c.5216G= (p.Trp1739=)
c.*5732G= (n.*5732G=)
c.*7968G= (n.*7968G=)
c.5219G= (p.Trp1740=)
c.5150G= (p.Trp1717=)
c.5018G= (p.Trp1673=)
c.5051G= (p.Trp1684=)
c.1442G=
n.3101G=
c.3873G=
c.5078G= (p.Trp1693=)
n.816G=
c.5021G= (p.Trp1674=)
c.5087G= (p.Trp1696=)
c.5012G= (p.Trp1671=)
n.2867G=
c.5144G= (p.Trp1715=)
c.5090G= (p.Trp1697=)
c.5105G= (p.Trp1702=)
c.5015G= (p.Trp1672=)
c.5140G=
n.3303G=
c.5213G= (p.Trp1738=)
n.4034G=
n.2471G=
n.2442G=
n.2332G=
c.4874G= (p.Trp1625=)
c.*4386G= (n.*4386G=)
c.4910G= (p.Trp1637=)
n.2942G=
c.1401G=
n.2334G=
c.5273G= (p.Trp1758=)
c.5270G= (p.Trp1757=)
c.5162G= (p.Trp1721=)
c.5141G= (p.Trp1714=)
c.4487G= (p.Trp1496=)
c.5435G= (p.Trp1812=)
c.5183G= (p.Trp1728=)
c.3929G= (p.Trp1310=)
16g.2088285G>TCA394314460TSC2c.*3568G>T (n.*3568G>T)
c.5066G>T (p.Trp1689Leu)
c.5216G>T (p.Trp1739Leu)
c.*5732G>T (n.*5732G>T)
c.*7968G>T (n.*7968G>T)
c.5219G>T (p.Trp1740Leu)
c.5150G>T (p.Trp1717Leu)
c.5018G>T (p.Trp1673Leu)
c.5051G>T (p.Trp1684Leu)
c.1442G>T
n.3101G>T
c.3873G>T
c.5078G>T (p.Trp1693Leu)
n.816G>T
c.5021G>T (p.Trp1674Leu)
c.5087G>T (p.Trp1696Leu)
c.5012G>T (p.Trp1671Leu)
n.2867G>T
c.5144G>T (p.Trp1715Leu)
c.5090G>T (p.Trp1697Leu)
c.5105G>T (p.Trp1702Leu)
c.5015G>T (p.Trp1672Leu)
c.5140G>T
n.3303G>T
c.5213G>T (p.Trp1738Leu)
n.4034G>T
n.2471G>T
n.2442G>T
n.2332G>T
c.4874G>T (p.Trp1625Leu)
c.*4386G>T (n.*4386G>T)
c.4910G>T (p.Trp1637Leu)
n.2942G>T
c.1401G>T
n.2334G>T
c.5273G>T (p.Trp1758Leu)
c.5270G>T (p.Trp1757Leu)
c.5162G>T (p.Trp1721Leu)
c.5141G>T (p.Trp1714Leu)
c.4487G>T (p.Trp1496Leu)
c.5435G>T (p.Trp1812Leu)
c.5183G>T (p.Trp1728Leu)
c.3929G>T (p.Trp1310Leu)
 dbSNP
16g.2088286dupCA2697549442TSC2c.*3569dup (n.*3569dup)
c.5067dup (p.Ile1690AspfsTer?)
c.5217dup (p.Ile1740AspfsTer?)
c.*5733dup (n.*5733dup)
c.*7969dup (n.*7969dup)
c.5220dup (p.Ile1741AspfsTer?)
c.5151dup (p.Ile1718AspfsTer?)
c.5019dup (p.Ile1674AspfsTer?)
c.5052dup (p.Ile1685AspfsTer?)
c.1443dup
n.3102dup
c.3874dup
c.5079dup (p.Ile1694AspfsTer?)
n.817dup
c.5022dup (p.Ile1675AspfsTer?)
c.5088dup (p.Ile1697AspfsTer?)
c.5013dup (p.Ile1672AspfsTer?)
n.2868dup
c.5145dup (p.Ile1716AspfsTer?)
c.5091dup (p.Ile1698AspfsTer?)
c.5106dup (p.Ile1703AspfsTer?)
c.5016dup (p.Ile1673AspfsTer?)
c.5141dup
n.3304dup
c.5214dup (p.Ile1739AspfsTer?)
n.4035dup
n.2472dup
n.2443dup
n.2333dup
c.4875dup (p.Ile1626AspfsTer?)
c.*4387dup (n.*4387dup)
c.4911dup (p.Ile1638AspfsTer?)
n.2943dup
c.1402dup
n.2335dup
c.5274dup (p.Ile1759AspfsTer?)
c.5271dup (p.Ile1758AspfsTer?)
c.5163dup (p.Ile1722AspfsTer?)
c.5142dup (p.Ile1715AspfsTer?)
c.4488dup (p.Ile1497AspfsTer?)
c.5436dup (p.Ile1813AspfsTer?)
c.5184dup (p.Ile1729AspfsTer?)
c.3930dup (p.Ile1311AspfsTer?)
 ClinVar
16g.2088286G>ACA022177TSC2c.*3569G>A (n.*3569G>A)
c.5067G>A (p.Trp1689Ter)
c.5217G>A (p.Trp1739Ter)
c.*5733G>A (n.*5733G>A)
c.*7969G>A (n.*7969G>A)
c.5220G>A (p.Trp1740Ter)
c.5151G>A (p.Trp1717Ter)
c.5019G>A (p.Trp1673Ter)
c.5052G>A (p.Trp1684Ter)
c.1443G>A
n.3102G>A
c.3874G>A
c.5079G>A (p.Trp1693Ter)
n.817G>A
c.5022G>A (p.Trp1674Ter)
c.5088G>A (p.Trp1696Ter)
c.5013G>A (p.Trp1671Ter)
n.2868G>A
c.5145G>A (p.Trp1715Ter)
c.5091G>A (p.Trp1697Ter)
c.5106G>A (p.Trp1702Ter)
c.5016G>A (p.Trp1672Ter)
c.5141G>A
n.3304G>A
c.5214G>A (p.Trp1738Ter)
n.4035G>A
n.2472G>A
n.2443G>A
n.2333G>A
c.4875G>A (p.Trp1625Ter)
c.*4387G>A (n.*4387G>A)
c.4911G>A (p.Trp1637Ter)
n.2943G>A
c.1402G>A
n.2335G>A
c.5274G>A (p.Trp1758Ter)
c.5271G>A (p.Trp1757Ter)
c.5163G>A (p.Trp1721Ter)
c.5142G>A (p.Trp1714Ter)
c.4488G>A (p.Trp1496Ter)
c.5436G>A (p.Trp1812Ter)
c.5184G>A (p.Trp1728Ter)
c.3930G>A (p.Trp1310Ter)
 ClinVar dbSNP
16g.2088286G>CCA394314475TSC2c.*3569G>C (n.*3569G>C)
c.5067G>C (p.Trp1689Cys)
c.5217G>C (p.Trp1739Cys)
c.*5733G>C (n.*5733G>C)
c.*7969G>C (n.*7969G>C)
c.5220G>C (p.Trp1740Cys)
c.5151G>C (p.Trp1717Cys)
c.5019G>C (p.Trp1673Cys)
c.5052G>C (p.Trp1684Cys)
c.1443G>C
n.3102G>C
c.3874G>C
c.5079G>C (p.Trp1693Cys)
n.817G>C
c.5022G>C (p.Trp1674Cys)
c.5088G>C (p.Trp1696Cys)
c.5013G>C (p.Trp1671Cys)
n.2868G>C
c.5145G>C (p.Trp1715Cys)
c.5091G>C (p.Trp1697Cys)
c.5106G>C (p.Trp1702Cys)
c.5016G>C (p.Trp1672Cys)
c.5141G>C
n.3304G>C
c.5214G>C (p.Trp1738Cys)
n.4035G>C
n.2472G>C
n.2443G>C
n.2333G>C
c.4875G>C (p.Trp1625Cys)
c.*4387G>C (n.*4387G>C)
c.4911G>C (p.Trp1637Cys)
n.2943G>C
c.1402G>C
n.2335G>C
c.5274G>C (p.Trp1758Cys)
c.5271G>C (p.Trp1757Cys)
c.5163G>C (p.Trp1721Cys)
c.5142G>C (p.Trp1714Cys)
c.4488G>C (p.Trp1496Cys)
c.5436G>C (p.Trp1812Cys)
c.5184G>C (p.Trp1728Cys)
c.3930G>C (p.Trp1310Cys)
 dbSNP gnomAD v4
16g.2088286G=CA2202032405TSC2c.*3569G= (n.*3569G=)
c.5067G= (p.Trp1689=)
c.5217G= (p.Trp1739=)
c.*5733G= (n.*5733G=)
c.*7969G= (n.*7969G=)
c.5220G= (p.Trp1740=)
c.5151G= (p.Trp1717=)
c.5019G= (p.Trp1673=)
c.5052G= (p.Trp1684=)
c.1443G=
n.3102G=
c.3874G=
c.5079G= (p.Trp1693=)
n.817G=
c.5022G= (p.Trp1674=)
c.5088G= (p.Trp1696=)
c.5013G= (p.Trp1671=)
n.2868G=
c.5145G= (p.Trp1715=)
c.5091G= (p.Trp1697=)
c.5106G= (p.Trp1702=)
c.5016G= (p.Trp1672=)
c.5141G=
n.3304G=
c.5214G= (p.Trp1738=)
n.4035G=
n.2472G=
n.2443G=
n.2333G=
c.4875G= (p.Trp1625=)
c.*4387G= (n.*4387G=)
c.4911G= (p.Trp1637=)
n.2943G=
c.1402G=
n.2335G=
c.5274G= (p.Trp1758=)
c.5271G= (p.Trp1757=)
c.5163G= (p.Trp1721=)
c.5142G= (p.Trp1714=)
c.4488G= (p.Trp1496=)
c.5436G= (p.Trp1812=)
c.5184G= (p.Trp1728=)
c.3930G= (p.Trp1310=)
16g.2088286G>TCA394314479TSC2c.*3569G>T (n.*3569G>T)
c.5067G>T (p.Trp1689Cys)
c.5217G>T (p.Trp1739Cys)
c.*5733G>T (n.*5733G>T)
c.*7969G>T (n.*7969G>T)
c.5220G>T (p.Trp1740Cys)
c.5151G>T (p.Trp1717Cys)
c.5019G>T (p.Trp1673Cys)
c.5052G>T (p.Trp1684Cys)
c.1443G>T
n.3102G>T
c.3874G>T
c.5079G>T (p.Trp1693Cys)
n.817G>T
c.5022G>T (p.Trp1674Cys)
c.5088G>T (p.Trp1696Cys)
c.5013G>T (p.Trp1671Cys)
n.2868G>T
c.5145G>T (p.Trp1715Cys)
c.5091G>T (p.Trp1697Cys)
c.5106G>T (p.Trp1702Cys)
c.5016G>T (p.Trp1672Cys)
c.5141G>T
n.3304G>T
c.5214G>T (p.Trp1738Cys)
n.4035G>T
n.2472G>T
n.2443G>T
n.2333G>T
c.4875G>T (p.Trp1625Cys)
c.*4387G>T (n.*4387G>T)
c.4911G>T (p.Trp1637Cys)
n.2943G>T
c.1402G>T
n.2335G>T
c.5274G>T (p.Trp1758Cys)
c.5271G>T (p.Trp1757Cys)
c.5163G>T (p.Trp1721Cys)
c.5142G>T (p.Trp1714Cys)
c.4488G>T (p.Trp1496Cys)
c.5436G>T (p.Trp1812Cys)
c.5184G>T (p.Trp1728Cys)
c.3930G>T (p.Trp1310Cys)
 ClinVar dbSNP gnomAD v4
16g.2088286_2088291dupCA022192TSC2c.*3569_*3574dup (n.*3569_*3574dup)
c.5067_5072dup (p.Ala1691_Arg1692insIleAla)
c.5217_5222dup (p.Ala1741_Arg1742insIleAla)
c.*5733_*5738dup (n.*5733_*5738dup)
c.*7969_*7974dup (n.*7969_*7974dup)
c.5220_5225dup (p.Ala1742_Arg1743insIleAla)
c.5151_5156dup (p.Ala1719_Arg1720insIleAla)
c.5019_5024dup (p.Ala1675_Arg1676insIleAla)
c.5052_5057dup (p.Ala1686_Arg1687insIleAla)
c.1443_1448dup
n.3102_3107dup
c.3874_3879dup
c.5079_5084dup (p.Ala1695_Arg1696insIleAla)
n.817_822dup
c.5022_5027dup (p.Ala1676_Arg1677insIleAla)
c.5088_5093dup (p.Ala1698_Arg1699insIleAla)
c.5013_5018dup (p.Ala1673_Arg1674insIleAla)
n.2868_2873dup
c.5145_5150dup (p.Ala1717_Arg1718insIleAla)
c.5091_5096dup (p.Ala1699_Arg1700insIleAla)
c.5106_5111dup (p.Ala1704_Arg1705insIleAla)
c.5016_5021dup (p.Ala1674_Arg1675insIleAla)
c.5141_5146dup
n.3304_3309dup
c.5214_5219dup (p.Ala1740_Arg1741insIleAla)
n.4035_4040dup
n.2472_2477dup
n.2443_2448dup
n.2333_2338dup
c.4875_4880dup (p.Ala1627_Arg1628insIleAla)
c.*4387_*4392dup (n.*4387_*4392dup)
c.4911_4916dup (p.Ala1639_Arg1640insIleAla)
n.2943_2948dup
c.1402_1407dup
n.2335_2340dup
c.5274_5279dup (p.Ala1760_Arg1761insIleAla)
c.5271_5276dup (p.Ala1759_Arg1760insIleAla)
c.5163_5168dup (p.Ala1723_Arg1724insIleAla)
c.5142_5147dup (p.Ala1716_Arg1717insIleAla)
c.4488_4493dup (p.Ala1498_Arg1499insIleAla)
c.5436_5441dup (p.Ala1814_Arg1815insIleAla)
c.5184_5189dup (p.Ala1730_Arg1731insIleAla)
c.3930_3935dup (p.Ala1312_Arg1313insIleAla)
 ClinVar dbSNP
16g.2088287A=CA2202032411TSC2c.*3570A= (n.*3570A=)
c.5068A= (p.Ile1690=)
c.5218A= (p.Ile1740=)
c.*5734A= (n.*5734A=)
c.*7970A= (n.*7970A=)
c.5221A= (p.Ile1741=)
c.5152A= (p.Ile1718=)
c.5020A= (p.Ile1674=)
c.5053A= (p.Ile1685=)
c.1444A=
n.3103A=
c.3875A=
c.5080A= (p.Ile1694=)
n.818A=
c.5023A= (p.Ile1675=)
c.5089A= (p.Ile1697=)
c.5014A= (p.Ile1672=)
n.2869A=
c.5146A= (p.Ile1716=)
c.5092A= (p.Ile1698=)
c.5107A= (p.Ile1703=)
c.5017A= (p.Ile1673=)
c.5142A=
n.3305A=
c.5215A= (p.Ile1739=)
n.4036A=
n.2473A=
n.2444A=
n.2334A=
c.4876A= (p.Ile1626=)
c.*4388A= (n.*4388A=)
c.4912A= (p.Ile1638=)
n.2944A=
c.1403A=
n.2336A=
c.5275A= (p.Ile1759=)
c.5272A= (p.Ile1758=)
c.5164A= (p.Ile1722=)
c.5143A= (p.Ile1715=)
c.4489A= (p.Ile1497=)
c.5437A= (p.Ile1813=)
c.5185A= (p.Ile1729=)
c.3931A= (p.Ile1311=)
16g.2088287A>CCA394314482TSC2c.*3570A>C (n.*3570A>C)
c.5068A>C (p.Ile1690Leu)
c.5218A>C (p.Ile1740Leu)
c.*5734A>C (n.*5734A>C)
c.*7970A>C (n.*7970A>C)
c.5221A>C (p.Ile1741Leu)
c.5152A>C (p.Ile1718Leu)
c.5020A>C (p.Ile1674Leu)
c.5053A>C (p.Ile1685Leu)
c.1444A>C
n.3103A>C
c.3875A>C
c.5080A>C (p.Ile1694Leu)
n.818A>C
c.5023A>C (p.Ile1675Leu)
c.5089A>C (p.Ile1697Leu)
c.5014A>C (p.Ile1672Leu)
n.2869A>C
c.5146A>C (p.Ile1716Leu)
c.5092A>C (p.Ile1698Leu)
c.5107A>C (p.Ile1703Leu)
c.5017A>C (p.Ile1673Leu)
c.5142A>C
n.3305A>C
c.5215A>C (p.Ile1739Leu)
n.4036A>C
n.2473A>C
n.2444A>C
n.2334A>C
c.4876A>C (p.Ile1626Leu)
c.*4388A>C (n.*4388A>C)
c.4912A>C (p.Ile1638Leu)
n.2944A>C
c.1403A>C
n.2336A>C
c.5275A>C (p.Ile1759Leu)
c.5272A>C (p.Ile1758Leu)
c.5164A>C (p.Ile1722Leu)
c.5143A>C (p.Ile1715Leu)
c.4489A>C (p.Ile1497Leu)
c.5437A>C (p.Ile1813Leu)
c.5185A>C (p.Ile1729Leu)
c.3931A>C (p.Ile1311Leu)
 dbSNP
16g.2088287A>GCA054501TSC2c.*3570A>G (n.*3570A>G)
c.5068A>G (p.Ile1690Val)
c.5218A>G (p.Ile1740Val)
c.*5734A>G (n.*5734A>G)
c.*7970A>G (n.*7970A>G)
c.5221A>G (p.Ile1741Val)
c.5152A>G (p.Ile1718Val)
c.5020A>G (p.Ile1674Val)
c.5053A>G (p.Ile1685Val)
c.1444A>G
n.3103A>G
c.3875A>G
c.5080A>G (p.Ile1694Val)
n.818A>G
c.5023A>G (p.Ile1675Val)
c.5089A>G (p.Ile1697Val)
c.5014A>G (p.Ile1672Val)
n.2869A>G
c.5146A>G (p.Ile1716Val)
c.5092A>G (p.Ile1698Val)
c.5107A>G (p.Ile1703Val)
c.5017A>G (p.Ile1673Val)
c.5142A>G
n.3305A>G
c.5215A>G (p.Ile1739Val)
n.4036A>G
n.2473A>G
n.2444A>G
n.2334A>G
c.4876A>G (p.Ile1626Val)
c.*4388A>G (n.*4388A>G)
c.4912A>G (p.Ile1638Val)
n.2944A>G
c.1403A>G
n.2336A>G
c.5275A>G (p.Ile1759Val)
c.5272A>G (p.Ile1758Val)
c.5164A>G (p.Ile1722Val)
c.5143A>G (p.Ile1715Val)
c.4489A>G (p.Ile1497Val)
c.5437A>G (p.Ile1813Val)
c.5185A>G (p.Ile1729Val)
c.3931A>G (p.Ile1311Val)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
16g.2088287A>TCA394314488TSC2c.*3570A>T (n.*3570A>T)
c.5068A>T (p.Ile1690Phe)
c.5218A>T (p.Ile1740Phe)
c.*5734A>T (n.*5734A>T)
c.*7970A>T (n.*7970A>T)
c.5221A>T (p.Ile1741Phe)
c.5152A>T (p.Ile1718Phe)
c.5020A>T (p.Ile1674Phe)
c.5053A>T (p.Ile1685Phe)
c.1444A>T
n.3103A>T
c.3875A>T
c.5080A>T (p.Ile1694Phe)
n.818A>T
c.5023A>T (p.Ile1675Phe)
c.5089A>T (p.Ile1697Phe)
c.5014A>T (p.Ile1672Phe)
n.2869A>T
c.5146A>T (p.Ile1716Phe)
c.5092A>T (p.Ile1698Phe)
c.5107A>T (p.Ile1703Phe)
c.5017A>T (p.Ile1673Phe)
c.5142A>T
n.3305A>T
c.5215A>T (p.Ile1739Phe)
n.4036A>T
n.2473A>T
n.2444A>T
n.2334A>T
c.4876A>T (p.Ile1626Phe)
c.*4388A>T (n.*4388A>T)
c.4912A>T (p.Ile1638Phe)
n.2944A>T
c.1403A>T
n.2336A>T
c.5275A>T (p.Ile1759Phe)
c.5272A>T (p.Ile1758Phe)
c.5164A>T (p.Ile1722Phe)
c.5143A>T (p.Ile1715Phe)
c.4489A>T (p.Ile1497Phe)
c.5437A>T (p.Ile1813Phe)
c.5185A>T (p.Ile1729Phe)
c.3931A>T (p.Ile1311Phe)
 ClinVar dbSNP
16g.2088288T>ACA394314495TSC2c.*3571T>A (n.*3571T>A)
c.5069T>A (p.Ile1690Asn)
c.5219T>A (p.Ile1740Asn)
c.*5735T>A (n.*5735T>A)
c.*7971T>A (n.*7971T>A)
c.5222T>A (p.Ile1741Asn)
c.5153T>A (p.Ile1718Asn)
c.5021T>A (p.Ile1674Asn)
c.5054T>A (p.Ile1685Asn)
c.1445T>A
n.3104T>A
c.3876T>A
c.5081T>A (p.Ile1694Asn)
n.819T>A
c.5024T>A (p.Ile1675Asn)
c.5090T>A (p.Ile1697Asn)
c.5015T>A (p.Ile1672Asn)
n.2870T>A
c.5147T>A (p.Ile1716Asn)
c.5093T>A (p.Ile1698Asn)
c.5108T>A (p.Ile1703Asn)
c.5018T>A (p.Ile1673Asn)
c.5143T>A
n.3306T>A
c.5216T>A (p.Ile1739Asn)
n.4037T>A
n.2474T>A
n.2445T>A
n.2335T>A
c.4877T>A (p.Ile1626Asn)
c.*4389T>A (n.*4389T>A)
c.4913T>A (p.Ile1638Asn)
n.2945T>A
c.1404T>A
n.2337T>A
c.5276T>A (p.Ile1759Asn)
c.5273T>A (p.Ile1758Asn)
c.5165T>A (p.Ile1722Asn)
c.5144T>A (p.Ile1715Asn)
c.4490T>A (p.Ile1497Asn)
c.5438T>A (p.Ile1813Asn)
c.5186T>A (p.Ile1729Asn)
c.3932T>A (p.Ile1311Asn)
 dbSNP
16g.2088288T>CCA276759496TSC2c.*3571T>C (n.*3571T>C)
c.5069T>C (p.Ile1690Thr)
c.5219T>C (p.Ile1740Thr)
c.*5735T>C (n.*5735T>C)
c.*7971T>C (n.*7971T>C)
c.5222T>C (p.Ile1741Thr)
c.5153T>C (p.Ile1718Thr)
c.5021T>C (p.Ile1674Thr)
c.5054T>C (p.Ile1685Thr)
c.1445T>C
n.3104T>C
c.3876T>C
c.5081T>C (p.Ile1694Thr)
n.819T>C
c.5024T>C (p.Ile1675Thr)
c.5090T>C (p.Ile1697Thr)
c.5015T>C (p.Ile1672Thr)
n.2870T>C
c.5147T>C (p.Ile1716Thr)
c.5093T>C (p.Ile1698Thr)
c.5108T>C (p.Ile1703Thr)
c.5018T>C (p.Ile1673Thr)
c.5143T>C
n.3306T>C
c.5216T>C (p.Ile1739Thr)
n.4037T>C
n.2474T>C
n.2445T>C
n.2335T>C
c.4877T>C (p.Ile1626Thr)
c.*4389T>C (n.*4389T>C)
c.4913T>C (p.Ile1638Thr)
n.2945T>C
c.1404T>C
n.2337T>C
c.5276T>C (p.Ile1759Thr)
c.5273T>C (p.Ile1758Thr)
c.5165T>C (p.Ile1722Thr)
c.5144T>C (p.Ile1715Thr)
c.4490T>C (p.Ile1497Thr)
c.5438T>C (p.Ile1813Thr)
c.5186T>C (p.Ile1729Thr)
c.3932T>C (p.Ile1311Thr)
 ClinVar dbSNP gnomAD v4
16g.2088288T>GCA394314497TSC2c.*3571T>G (n.*3571T>G)
c.5069T>G (p.Ile1690Ser)
c.5219T>G (p.Ile1740Ser)
c.*5735T>G (n.*5735T>G)
c.*7971T>G (n.*7971T>G)
c.5222T>G (p.Ile1741Ser)
c.5153T>G (p.Ile1718Ser)
c.5021T>G (p.Ile1674Ser)
c.5054T>G (p.Ile1685Ser)
c.1445T>G
n.3104T>G
c.3876T>G
c.5081T>G (p.Ile1694Ser)
n.819T>G
c.5024T>G (p.Ile1675Ser)
c.5090T>G (p.Ile1697Ser)
c.5015T>G (p.Ile1672Ser)
n.2870T>G
c.5147T>G (p.Ile1716Ser)
c.5093T>G (p.Ile1698Ser)
c.5108T>G (p.Ile1703Ser)
c.5018T>G (p.Ile1673Ser)
c.5143T>G
n.3306T>G
c.5216T>G (p.Ile1739Ser)
n.4037T>G
n.2474T>G
n.2445T>G
n.2335T>G
c.4877T>G (p.Ile1626Ser)
c.*4389T>G (n.*4389T>G)
c.4913T>G (p.Ile1638Ser)
n.2945T>G
c.1404T>G
n.2337T>G
c.5276T>G (p.Ile1759Ser)
c.5273T>G (p.Ile1758Ser)
c.5165T>G (p.Ile1722Ser)
c.5144T>G (p.Ile1715Ser)
c.4490T>G (p.Ile1497Ser)
c.5438T>G (p.Ile1813Ser)
c.5186T>G (p.Ile1729Ser)
c.3932T>G (p.Ile1311Ser)
 dbSNP
16g.2088288T=CA2202032417TSC2c.*3571T= (n.*3571T=)
c.5069T= (p.Ile1690=)
c.5219T= (p.Ile1740=)
c.*5735T= (n.*5735T=)
c.*7971T= (n.*7971T=)
c.5222T= (p.Ile1741=)
c.5153T= (p.Ile1718=)
c.5021T= (p.Ile1674=)
c.5054T= (p.Ile1685=)
c.1445T=
n.3104T=
c.3876T=
c.5081T= (p.Ile1694=)
n.819T=
c.5024T= (p.Ile1675=)
c.5090T= (p.Ile1697=)
c.5015T= (p.Ile1672=)
n.2870T=
c.5147T= (p.Ile1716=)
c.5093T= (p.Ile1698=)
c.5108T= (p.Ile1703=)
c.5018T= (p.Ile1673=)
c.5143T=
n.3306T=
c.5216T= (p.Ile1739=)
n.4037T=
n.2474T=
n.2445T=
n.2335T=
c.4877T= (p.Ile1626=)
c.*4389T= (n.*4389T=)
c.4913T= (p.Ile1638=)
n.2945T=
c.1404T=
n.2337T=
c.5276T= (p.Ile1759=)
c.5273T= (p.Ile1758=)
c.5165T= (p.Ile1722=)
c.5144T= (p.Ile1715=)
c.4490T= (p.Ile1497=)
c.5438T= (p.Ile1813=)
c.5186T= (p.Ile1729=)
c.3932T= (p.Ile1311=)
16g.2088289T>ACA493043810TSC2c.*3572T>A (n.*3572T>A)
c.5070T>A (p.Ile1690=)
c.5220T>A (p.Ile1740=)
c.*5736T>A (n.*5736T>A)
c.*7972T>A (n.*7972T>A)
c.5223T>A (p.Ile1741=)
c.5154T>A (p.Ile1718=)
c.5022T>A (p.Ile1674=)
c.5055T>A (p.Ile1685=)
c.1446T>A
n.3105T>A
c.3877T>A
c.5082T>A (p.Ile1694=)
n.820T>A
c.5025T>A (p.Ile1675=)
c.5091T>A (p.Ile1697=)
c.5016T>A (p.Ile1672=)
n.2871T>A
c.5148T>A (p.Ile1716=)
c.5094T>A (p.Ile1698=)
c.5109T>A (p.Ile1703=)
c.5019T>A (p.Ile1673=)
c.5144T>A
n.3307T>A
c.5217T>A (p.Ile1739=)
n.4038T>A
n.2475T>A
n.2446T>A
n.2336T>A
c.4878T>A (p.Ile1626=)
c.*4390T>A (n.*4390T>A)
c.4914T>A (p.Ile1638=)
n.2946T>A
c.1405T>A
n.2338T>A
c.5277T>A (p.Ile1759=)
c.5274T>A (p.Ile1758=)
c.5166T>A (p.Ile1722=)
c.5145T>A (p.Ile1715=)
c.4491T>A (p.Ile1497=)
c.5439T>A (p.Ile1813=)
c.5187T>A (p.Ile1729=)
c.3933T>A (p.Ile1311=)
16g.2088289T>CCA493043811TSC2c.*3572T>C (n.*3572T>C)
c.5070T>C (p.Ile1690=)
c.5220T>C (p.Ile1740=)
c.*5736T>C (n.*5736T>C)
c.*7972T>C (n.*7972T>C)
c.5223T>C (p.Ile1741=)
c.5154T>C (p.Ile1718=)
c.5022T>C (p.Ile1674=)
c.5055T>C (p.Ile1685=)
c.1446T>C
n.3105T>C
c.3877T>C
c.5082T>C (p.Ile1694=)
n.820T>C
c.5025T>C (p.Ile1675=)
c.5091T>C (p.Ile1697=)
c.5016T>C (p.Ile1672=)
n.2871T>C
c.5148T>C (p.Ile1716=)
c.5094T>C (p.Ile1698=)
c.5109T>C (p.Ile1703=)
c.5019T>C (p.Ile1673=)
c.5144T>C
n.3307T>C
c.5217T>C (p.Ile1739=)
n.4038T>C
n.2475T>C
n.2446T>C
n.2336T>C
c.4878T>C (p.Ile1626=)
c.*4390T>C (n.*4390T>C)
c.4914T>C (p.Ile1638=)
n.2946T>C
c.1405T>C
n.2338T>C
c.5277T>C (p.Ile1759=)
c.5274T>C (p.Ile1758=)
c.5166T>C (p.Ile1722=)
c.5145T>C (p.Ile1715=)
c.4491T>C (p.Ile1497=)
c.5439T>C (p.Ile1813=)
c.5187T>C (p.Ile1729=)
c.3933T>C (p.Ile1311=)
16g.2088289T>GCA394314504TSC2c.*3572T>G (n.*3572T>G)
c.5070T>G (p.Ile1690Met)
c.5220T>G (p.Ile1740Met)
c.*5736T>G (n.*5736T>G)
c.*7972T>G (n.*7972T>G)
c.5223T>G (p.Ile1741Met)
c.5154T>G (p.Ile1718Met)
c.5022T>G (p.Ile1674Met)
c.5055T>G (p.Ile1685Met)
c.1446T>G
n.3105T>G
c.3877T>G
c.5082T>G (p.Ile1694Met)
n.820T>G
c.5025T>G (p.Ile1675Met)
c.5091T>G (p.Ile1697Met)
c.5016T>G (p.Ile1672Met)
n.2871T>G
c.5148T>G (p.Ile1716Met)
c.5094T>G (p.Ile1698Met)
c.5109T>G (p.Ile1703Met)
c.5019T>G (p.Ile1673Met)
c.5144T>G
n.3307T>G
c.5217T>G (p.Ile1739Met)
n.4038T>G
n.2475T>G
n.2446T>G
n.2336T>G
c.4878T>G (p.Ile1626Met)
c.*4390T>G (n.*4390T>G)
c.4914T>G (p.Ile1638Met)
n.2946T>G
c.1405T>G
n.2338T>G
c.5277T>G (p.Ile1759Met)
c.5274T>G (p.Ile1758Met)
c.5166T>G (p.Ile1722Met)
c.5145T>G (p.Ile1715Met)
c.4491T>G (p.Ile1497Met)
c.5439T>G (p.Ile1813Met)
c.5187T>G (p.Ile1729Met)
c.3933T>G (p.Ile1311Met)
16g.2088289_2088307delinsTGCCCGGCTCCGCCACATCCA2202032424TSC2c.*3572_*3590delinsTGCCCGGCTCCGCCACATC (n.*3572_*3590delinsTGCCCGGCTCCGCCACATC)
c.5070_5088delinsTGCCCGGCTCCGCCACATC (p.Ile1690=)
c.5220_5238delinsTGCCCGGCTCCGCCACATC (p.Ile1740=)
c.*5736_*5754delinsTGCCCGGCTCCGCCACATC (n.*5736_*5754delinsTGCCCGGCTCCGCCACATC)
c.*7972_*7990delinsTGCCCGGCTCCGCCACATC (n.*7972_*7990delinsTGCCCGGCTCCGCCACATC)
c.5223_5241delinsTGCCCGGCTCCGCCACATC (p.Ile1741=)
c.5154_5172delinsTGCCCGGCTCCGCCACATC (p.Ile1718=)
c.5022_5040delinsTGCCCGGCTCCGCCACATC (p.Ile1674=)
c.5055_5073delinsTGCCCGGCTCCGCCACATC (p.Ile1685=)
c.1446_1464delinsTGCCCGGCTCCGCCACATC
n.3105_3123delinsTGCCCGGCTCCGCCACATC
c.3877_3895delinsTGCCCGGCTCCGCCACATC
c.5082_5100delinsTGCCCGGCTCCGCCACATC (p.Ile1694=)
n.820_838delinsTGCCCGGCTCCGCCACATC
c.5025_5043delinsTGCCCGGCTCCGCCACATC (p.Ile1675=)
c.5091_5109delinsTGCCCGGCTCCGCCACATC (p.Ile1697=)
c.5016_5034delinsTGCCCGGCTCCGCCACATC (p.Ile1672=)
n.2871_2889delinsTGCCCGGCTCCGCCACATC
c.5148_5166delinsTGCCCGGCTCCGCCACATC (p.Ile1716=)
c.5094_5112delinsTGCCCGGCTCCGCCACATC (p.Ile1698=)
c.5109_5127delinsTGCCCGGCTCCGCCACATC (p.Ile1703=)
c.5019_5037delinsTGCCCGGCTCCGCCACATC (p.Ile1673=)
c.5144_5162delinsTGCCCGGCTCCGCCACATC
n.3307_3325delinsTGCCCGGCTCCGCCACATC
c.5217_5235delinsTGCCCGGCTCCGCCACATC (p.Ile1739=)
n.4038_4056delinsTGCCCGGCTCCGCCACATC
n.2475_2493delinsTGCCCGGCTCCGCCACATC
n.2446_2464delinsTGCCCGGCTCCGCCACATC
n.2336_2354delinsTGCCCGGCTCCGCCACATC
c.4878_4896delinsTGCCCGGCTCCGCCACATC (p.Ile1626=)
c.*4390_*4408delinsTGCCCGGCTCCGCCACATC (n.*4390_*4408delinsTGCCCGGCTCCGCCACATC)
c.4914_4932delinsTGCCCGGCTCCGCCACATC (p.Ile1638=)
n.2946_2964delinsTGCCCGGCTCCGCCACATC
c.1405_1423delinsTGCCCGGCTCCGCCACATC
n.2338_2356delinsTGCCCGGCTCCGCCACATC
c.5277_5295delinsTGCCCGGCTCCGCCACATC (p.Ile1759=)
c.5274_5292delinsTGCCCGGCTCCGCCACATC (p.Ile1758=)
c.5166_5184delinsTGCCCGGCTCCGCCACATC (p.Ile1722=)
c.5145_5163delinsTGCCCGGCTCCGCCACATC (p.Ile1715=)
c.4491_4509delinsTGCCCGGCTCCGCCACATC (p.Ile1497=)
c.5439_5457delinsTGCCCGGCTCCGCCACATC (p.Ile1813=)
c.5187_5205delinsTGCCCGGCTCCGCCACATC (p.Ile1729=)
c.3933_3951delinsTGCCCGGCTCCGCCACATC (p.Ile1311=)
16g.2088290G>ACA394314508TSC2c.*3573G>A (n.*3573G>A)
c.5071G>A (p.Ala1691Thr)
c.5221G>A (p.Ala1741Thr)
c.*5737G>A (n.*5737G>A)
c.*7973G>A (n.*7973G>A)
c.5224G>A (p.Ala1742Thr)
c.5155G>A (p.Ala1719Thr)
c.5023G>A (p.Ala1675Thr)
c.5056G>A (p.Ala1686Thr)
c.1447G>A
n.3106G>A
c.3878G>A
c.5083G>A (p.Ala1695Thr)
n.821G>A
c.5026G>A (p.Ala1676Thr)
c.5092G>A (p.Ala1698Thr)
c.5017G>A (p.Ala1673Thr)
n.2872G>A
c.5149G>A (p.Ala1717Thr)
c.5095G>A (p.Ala1699Thr)
c.5110G>A (p.Ala1704Thr)
c.5020G>A (p.Ala1674Thr)
c.5145G>A
n.3308G>A
c.5218G>A (p.Ala1740Thr)
n.4039G>A
n.2476G>A
n.2447G>A
n.2337G>A
c.4879G>A (p.Ala1627Thr)
c.*4391G>A (n.*4391G>A)
c.4915G>A (p.Ala1639Thr)
n.2947G>A
c.1406G>A
n.2339G>A
c.5278G>A (p.Ala1760Thr)
c.5275G>A (p.Ala1759Thr)
c.5167G>A (p.Ala1723Thr)
c.5146G>A (p.Ala1716Thr)
c.4492G>A (p.Ala1498Thr)
c.5440G>A (p.Ala1814Thr)
c.5188G>A (p.Ala1730Thr)
c.3934G>A (p.Ala1312Thr)
 dbSNP
16g.2088290G>CCA394314512TSC2c.*3573G>C (n.*3573G>C)
c.5071G>C (p.Ala1691Pro)
c.5221G>C (p.Ala1741Pro)
c.*5737G>C (n.*5737G>C)
c.*7973G>C (n.*7973G>C)
c.5224G>C (p.Ala1742Pro)
c.5155G>C (p.Ala1719Pro)
c.5023G>C (p.Ala1675Pro)
c.5056G>C (p.Ala1686Pro)
c.1447G>C
n.3106G>C
c.3878G>C
c.5083G>C (p.Ala1695Pro)
n.821G>C
c.5026G>C (p.Ala1676Pro)
c.5092G>C (p.Ala1698Pro)
c.5017G>C (p.Ala1673Pro)
n.2872G>C
c.5149G>C (p.Ala1717Pro)
c.5095G>C (p.Ala1699Pro)
c.5110G>C (p.Ala1704Pro)
c.5020G>C (p.Ala1674Pro)
c.5145G>C
n.3308G>C
c.5218G>C (p.Ala1740Pro)
n.4039G>C
n.2476G>C
n.2447G>C
n.2337G>C
c.4879G>C (p.Ala1627Pro)
c.*4391G>C (n.*4391G>C)
c.4915G>C (p.Ala1639Pro)
n.2947G>C
c.1406G>C
n.2339G>C
c.5278G>C (p.Ala1760Pro)
c.5275G>C (p.Ala1759Pro)
c.5167G>C (p.Ala1723Pro)
c.5146G>C (p.Ala1716Pro)
c.4492G>C (p.Ala1498Pro)
c.5440G>C (p.Ala1814Pro)
c.5188G>C (p.Ala1730Pro)
c.3934G>C (p.Ala1312Pro)
 dbSNP
16g.2088290G=CA2202032429TSC2c.*3573G= (n.*3573G=)
c.5071G= (p.Ala1691=)
c.5221G= (p.Ala1741=)
c.*5737G= (n.*5737G=)
c.*7973G= (n.*7973G=)
c.5224G= (p.Ala1742=)
c.5155G= (p.Ala1719=)
c.5023G= (p.Ala1675=)
c.5056G= (p.Ala1686=)
c.1447G=
n.3106G=
c.3878G=
c.5083G= (p.Ala1695=)
n.821G=
c.5026G= (p.Ala1676=)
c.5092G= (p.Ala1698=)
c.5017G= (p.Ala1673=)
n.2872G=
c.5149G= (p.Ala1717=)
c.5095G= (p.Ala1699=)
c.5110G= (p.Ala1704=)
c.5020G= (p.Ala1674=)
c.5145G=
n.3308G=
c.5218G= (p.Ala1740=)
n.4039G=
n.2476G=
n.2447G=
n.2337G=
c.4879G= (p.Ala1627=)
c.*4391G= (n.*4391G=)
c.4915G= (p.Ala1639=)
n.2947G=
c.1406G=
n.2339G=
c.5278G= (p.Ala1760=)
c.5275G= (p.Ala1759=)
c.5167G= (p.Ala1723=)
c.5146G= (p.Ala1716=)
c.4492G= (p.Ala1498=)
c.5440G= (p.Ala1814=)
c.5188G= (p.Ala1730=)
c.3934G= (p.Ala1312=)
16g.2088290G>TCA394314515TSC2c.*3573G>T (n.*3573G>T)
c.5071G>T (p.Ala1691Ser)
c.5221G>T (p.Ala1741Ser)
c.*5737G>T (n.*5737G>T)
c.*7973G>T (n.*7973G>T)
c.5224G>T (p.Ala1742Ser)
c.5155G>T (p.Ala1719Ser)
c.5023G>T (p.Ala1675Ser)
c.5056G>T (p.Ala1686Ser)
c.1447G>T
n.3106G>T
c.3878G>T
c.5083G>T (p.Ala1695Ser)
n.821G>T
c.5026G>T (p.Ala1676Ser)
c.5092G>T (p.Ala1698Ser)
c.5017G>T (p.Ala1673Ser)
n.2872G>T
c.5149G>T (p.Ala1717Ser)
c.5095G>T (p.Ala1699Ser)
c.5110G>T (p.Ala1704Ser)
c.5020G>T (p.Ala1674Ser)
c.5145G>T
n.3308G>T
c.5218G>T (p.Ala1740Ser)
n.4039G>T
n.2476G>T
n.2447G>T
n.2337G>T
c.4879G>T (p.Ala1627Ser)
c.*4391G>T (n.*4391G>T)
c.4915G>T (p.Ala1639Ser)
n.2947G>T
c.1406G>T
n.2339G>T
c.5278G>T (p.Ala1760Ser)
c.5275G>T (p.Ala1759Ser)
c.5167G>T (p.Ala1723Ser)
c.5146G>T (p.Ala1716Ser)
c.4492G>T (p.Ala1498Ser)
c.5440G>T (p.Ala1814Ser)
c.5188G>T (p.Ala1730Ser)
c.3934G>T (p.Ala1312Ser)
16g.2088290_2088307delCA022183TSC2c.*3573_*3590del (n.*3573_*3590del)
c.5071_5088del (p.Ala1691_Ile1696del)
c.5221_5238del (p.Ala1741_Ile1746del)
c.*5737_*5754del (n.*5737_*5754del)
c.*7973_*7990del (n.*7973_*7990del)
c.5224_5241del (p.Ala1742_Ile1747del)
c.5155_5172del (p.Ala1719_Ile1724del)
c.5023_5040del (p.Ala1675_Ile1680del)
c.5056_5073del (p.Ala1686_Ile1691del)
c.1447_1464del
n.3106_3123del
c.3878_3895del
c.5083_5100del (p.Ala1695_Ile1700del)
n.821_838del
c.5026_5043del (p.Ala1676_Ile1681del)
c.5092_5109del (p.Ala1698_Ile1703del)
c.5017_5034del (p.Ala1673_Ile1678del)
n.2872_2889del
c.5149_5166del (p.Ala1717_Ile1722del)
c.5095_5112del (p.Ala1699_Ile1704del)
c.5110_5127del (p.Ala1704_Ile1709del)
c.5020_5037del (p.Ala1674_Ile1679del)
c.5145_5162del
n.3308_3325del
c.5218_5235del (p.Ala1740_Ile1745del)
n.4039_4056del
n.2476_2493del
n.2447_2464del
n.2337_2354del
c.4879_4896del (p.Ala1627_Ile1632del)
c.*4391_*4408del (n.*4391_*4408del)
c.4915_4932del (p.Ala1639_Ile1644del)
n.2947_2964del
c.1406_1423del
n.2339_2356del
c.5278_5295del (p.Ala1760_Ile1765del)
c.5275_5292del (p.Ala1759_Ile1764del)
c.5167_5184del (p.Ala1723_Ile1728del)
c.5146_5163del (p.Ala1716_Ile1721del)
c.4492_4509del (p.Ala1498_Ile1503del)
c.5440_5457del (p.Ala1814_Ile1819del)
c.5188_5205del (p.Ala1730_Ile1735del)
c.3934_3951del (p.Ala1312_Ile1317del)
 ClinVar dbSNP
16g.2088291C>ACA394314519TSC2c.*3574C>A (n.*3574C>A)
c.5072C>A (p.Ala1691Asp)
c.5222C>A (p.Ala1741Asp)
c.*5738C>A (n.*5738C>A)
c.*7974C>A (n.*7974C>A)
c.5225C>A (p.Ala1742Asp)
c.5156C>A (p.Ala1719Asp)
c.5024C>A (p.Ala1675Asp)
c.5057C>A (p.Ala1686Asp)
c.1448C>A
n.3107C>A
c.3879C>A
c.5084C>A (p.Ala1695Asp)
n.822C>A
c.5027C>A (p.Ala1676Asp)
c.5093C>A (p.Ala1698Asp)
c.5018C>A (p.Ala1673Asp)
n.2873C>A
c.5150C>A (p.Ala1717Asp)
c.5096C>A (p.Ala1699Asp)
c.5111C>A (p.Ala1704Asp)
c.5021C>A (p.Ala1674Asp)
c.5146C>A
n.3309C>A
c.5219C>A (p.Ala1740Asp)
n.4040C>A
n.2477C>A
n.2448C>A
n.2338C>A
c.4880C>A (p.Ala1627Asp)
c.*4392C>A (n.*4392C>A)
c.4916C>A (p.Ala1639Asp)
n.2948C>A
c.1407C>A
n.2340C>A
c.5279C>A (p.Ala1760Asp)
c.5276C>A (p.Ala1759Asp)
c.5168C>A (p.Ala1723Asp)
c.5147C>A (p.Ala1716Asp)
c.4493C>A (p.Ala1498Asp)
c.5441C>A (p.Ala1814Asp)
c.5189C>A (p.Ala1730Asp)
c.3935C>A (p.Ala1312Asp)
16g.2088291C=CA2202032436TSC2c.*3574C= (n.*3574C=)
c.5072C= (p.Ala1691=)
c.5222C= (p.Ala1741=)
c.*5738C= (n.*5738C=)
c.*7974C= (n.*7974C=)
c.5225C= (p.Ala1742=)
c.5156C= (p.Ala1719=)
c.5024C= (p.Ala1675=)
c.5057C= (p.Ala1686=)
c.1448C=
n.3107C=
c.3879C=
c.5084C= (p.Ala1695=)
n.822C=
c.5027C= (p.Ala1676=)
c.5093C= (p.Ala1698=)
c.5018C= (p.Ala1673=)
n.2873C=
c.5150C= (p.Ala1717=)
c.5096C= (p.Ala1699=)
c.5111C= (p.Ala1704=)
c.5021C= (p.Ala1674=)
c.5146C=
n.3309C=
c.5219C= (p.Ala1740=)
n.4040C=
n.2477C=
n.2448C=
n.2338C=
c.4880C= (p.Ala1627=)
c.*4392C= (n.*4392C=)
c.4916C= (p.Ala1639=)
n.2948C=
c.1407C=
n.2340C=
c.5279C= (p.Ala1760=)
c.5276C= (p.Ala1759=)
c.5168C= (p.Ala1723=)
c.5147C= (p.Ala1716=)
c.4493C= (p.Ala1498=)
c.5441C= (p.Ala1814=)
c.5189C= (p.Ala1730=)
c.3935C= (p.Ala1312=)
16g.2088291C>GCA394314523TSC2c.*3574C>G (n.*3574C>G)
c.5072C>G (p.Ala1691Gly)
c.5222C>G (p.Ala1741Gly)
c.*5738C>G (n.*5738C>G)
c.*7974C>G (n.*7974C>G)
c.5225C>G (p.Ala1742Gly)
c.5156C>G (p.Ala1719Gly)
c.5024C>G (p.Ala1675Gly)
c.5057C>G (p.Ala1686Gly)
c.1448C>G
n.3107C>G
c.3879C>G
c.5084C>G (p.Ala1695Gly)
n.822C>G
c.5027C>G (p.Ala1676Gly)
c.5093C>G (p.Ala1698Gly)
c.5018C>G (p.Ala1673Gly)
n.2873C>G
c.5150C>G (p.Ala1717Gly)
c.5096C>G (p.Ala1699Gly)
c.5111C>G (p.Ala1704Gly)
c.5021C>G (p.Ala1674Gly)
c.5146C>G
n.3309C>G
c.5219C>G (p.Ala1740Gly)
n.4040C>G
n.2477C>G
n.2448C>G
n.2338C>G
c.4880C>G (p.Ala1627Gly)
c.*4392C>G (n.*4392C>G)
c.4916C>G (p.Ala1639Gly)
n.2948C>G
c.1407C>G
n.2340C>G
c.5279C>G (p.Ala1760Gly)
c.5276C>G (p.Ala1759Gly)
c.5168C>G (p.Ala1723Gly)
c.5147C>G (p.Ala1716Gly)
c.4493C>G (p.Ala1498Gly)
c.5441C>G (p.Ala1814Gly)
c.5189C>G (p.Ala1730Gly)
c.3935C>G (p.Ala1312Gly)
 ClinVar dbSNP
16g.2088291C>TCA394314530TSC2c.*3574C>T (n.*3574C>T)
c.5072C>T (p.Ala1691Val)
c.5222C>T (p.Ala1741Val)
c.*5738C>T (n.*5738C>T)
c.*7974C>T (n.*7974C>T)
c.5225C>T (p.Ala1742Val)
c.5156C>T (p.Ala1719Val)
c.5024C>T (p.Ala1675Val)
c.5057C>T (p.Ala1686Val)
c.1448C>T
n.3107C>T
c.3879C>T
c.5084C>T (p.Ala1695Val)
n.822C>T
c.5027C>T (p.Ala1676Val)
c.5093C>T (p.Ala1698Val)
c.5018C>T (p.Ala1673Val)
n.2873C>T
c.5150C>T (p.Ala1717Val)
c.5096C>T (p.Ala1699Val)
c.5111C>T (p.Ala1704Val)
c.5021C>T (p.Ala1674Val)
c.5146C>T
n.3309C>T
c.5219C>T (p.Ala1740Val)
n.4040C>T
n.2477C>T
n.2448C>T
n.2338C>T
c.4880C>T (p.Ala1627Val)
c.*4392C>T (n.*4392C>T)
c.4916C>T (p.Ala1639Val)
n.2948C>T
c.1407C>T
n.2340C>T
c.5279C>T (p.Ala1760Val)
c.5276C>T (p.Ala1759Val)
c.5168C>T (p.Ala1723Val)
c.5147C>T (p.Ala1716Val)
c.4493C>T (p.Ala1498Val)
c.5441C>T (p.Ala1814Val)
c.5189C>T (p.Ala1730Val)
c.3935C>T (p.Ala1312Val)
 ClinVar dbSNP gnomAD v2
16g.2088293dupCA2202032434TSC2c.*3576dup (n.*3576dup)
c.5074dup (p.Arg1692ProfsTer?)
c.5224dup (p.Arg1742ProfsTer?)
c.*5740dup (n.*5740dup)
c.*7976dup (n.*7976dup)
c.5227dup (p.Arg1743ProfsTer?)
c.5158dup (p.Arg1720ProfsTer?)
c.5026dup (p.Arg1676ProfsTer?)
c.5059dup (p.Arg1687ProfsTer?)
c.1450dup
n.3109dup
c.3881dup
c.5086dup (p.Arg1696ProfsTer?)
n.824dup
c.5029dup (p.Arg1677ProfsTer?)
c.5095dup (p.Arg1699ProfsTer?)
c.5020dup (p.Arg1674ProfsTer?)
n.2875dup
c.5152dup (p.Arg1718ProfsTer?)
c.5098dup (p.Arg1700ProfsTer?)
c.5113dup (p.Arg1705ProfsTer?)
c.5023dup (p.Arg1675ProfsTer?)
c.5148dup
n.3311dup
c.5221dup (p.Arg1741ProfsTer?)
n.4042dup
n.2479dup
n.2450dup
n.2340dup
c.4882dup (p.Arg1628ProfsTer?)
c.*4394dup (n.*4394dup)
c.4918dup (p.Arg1640ProfsTer?)
n.2950dup
c.1409dup
n.2342dup
c.5281dup (p.Arg1761ProfsTer?)
c.5278dup (p.Arg1760ProfsTer?)
c.5170dup (p.Arg1724ProfsTer?)
c.5149dup (p.Arg1717ProfsTer?)
c.4495dup (p.Arg1499ProfsTer?)
c.5443dup (p.Arg1815ProfsTer?)
c.5191dup (p.Arg1731ProfsTer?)
c.3937dup (p.Arg1313ProfsTer?)
 dbSNP
16g.2088292C>ACA493043818TSC2c.*3575C>A (n.*3575C>A)
c.5073C>A (p.Ala1691=)
c.5223C>A (p.Ala1741=)
c.*5739C>A (n.*5739C>A)
c.*7975C>A (n.*7975C>A)
c.5226C>A (p.Ala1742=)
c.5157C>A (p.Ala1719=)
c.5025C>A (p.Ala1675=)
c.5058C>A (p.Ala1686=)
c.1449C>A
n.3108C>A
c.3880C>A
c.5085C>A (p.Ala1695=)
n.823C>A
c.5028C>A (p.Ala1676=)
c.5094C>A (p.Ala1698=)
c.5019C>A (p.Ala1673=)
n.2874C>A
c.5151C>A (p.Ala1717=)
c.5097C>A (p.Ala1699=)
c.5112C>A (p.Ala1704=)
c.5022C>A (p.Ala1674=)
c.5147C>A
n.3310C>A
c.5220C>A (p.Ala1740=)
n.4041C>A
n.2478C>A
n.2449C>A
n.2339C>A
c.4881C>A (p.Ala1627=)
c.*4393C>A (n.*4393C>A)
c.4917C>A (p.Ala1639=)
n.2949C>A
c.1408C>A
n.2341C>A
c.5280C>A (p.Ala1760=)
c.5277C>A (p.Ala1759=)
c.5169C>A (p.Ala1723=)
c.5148C>A (p.Ala1716=)
c.4494C>A (p.Ala1498=)
c.5442C>A (p.Ala1814=)
c.5190C>A (p.Ala1730=)
c.3936C>A (p.Ala1312=)
16g.2088292C=CA2202032452TSC2c.*3575C= (n.*3575C=)
c.5073C= (p.Ala1691=)
c.5223C= (p.Ala1741=)
c.*5739C= (n.*5739C=)
c.*7975C= (n.*7975C=)
c.5226C= (p.Ala1742=)
c.5157C= (p.Ala1719=)
c.5025C= (p.Ala1675=)
c.5058C= (p.Ala1686=)
c.1449C=
n.3108C=
c.3880C=
c.5085C= (p.Ala1695=)
n.823C=
c.5028C= (p.Ala1676=)
c.5094C= (p.Ala1698=)
c.5019C= (p.Ala1673=)
n.2874C=
c.5151C= (p.Ala1717=)
c.5097C= (p.Ala1699=)
c.5112C= (p.Ala1704=)
c.5022C= (p.Ala1674=)
c.5147C=
n.3310C=
c.5220C= (p.Ala1740=)
n.4041C=
n.2478C=
n.2449C=
n.2339C=
c.4881C= (p.Ala1627=)
c.*4393C= (n.*4393C=)
c.4917C= (p.Ala1639=)
n.2949C=
c.1408C=
n.2341C=
c.5280C= (p.Ala1760=)
c.5277C= (p.Ala1759=)
c.5169C= (p.Ala1723=)
c.5148C= (p.Ala1716=)
c.4494C= (p.Ala1498=)
c.5442C= (p.Ala1814=)
c.5190C= (p.Ala1730=)
c.3936C= (p.Ala1312=)
16g.2088292C>GCA493043820TSC2c.*3575C>G (n.*3575C>G)
c.5073C>G (p.Ala1691=)
c.5223C>G (p.Ala1741=)
c.*5739C>G (n.*5739C>G)
c.*7975C>G (n.*7975C>G)
c.5226C>G (p.Ala1742=)
c.5157C>G (p.Ala1719=)
c.5025C>G (p.Ala1675=)
c.5058C>G (p.Ala1686=)
c.1449C>G
n.3108C>G
c.3880C>G
c.5085C>G (p.Ala1695=)
n.823C>G
c.5028C>G (p.Ala1676=)
c.5094C>G (p.Ala1698=)
c.5019C>G (p.Ala1673=)
n.2874C>G
c.5151C>G (p.Ala1717=)
c.5097C>G (p.Ala1699=)
c.5112C>G (p.Ala1704=)
c.5022C>G (p.Ala1674=)
c.5147C>G
n.3310C>G
c.5220C>G (p.Ala1740=)
n.4041C>G
n.2478C>G
n.2449C>G
n.2339C>G
c.4881C>G (p.Ala1627=)
c.*4393C>G (n.*4393C>G)
c.4917C>G (p.Ala1639=)
n.2949C>G
c.1408C>G
n.2341C>G
c.5280C>G (p.Ala1760=)
c.5277C>G (p.Ala1759=)
c.5169C>G (p.Ala1723=)
c.5148C>G (p.Ala1716=)
c.4494C>G (p.Ala1498=)
c.5442C>G (p.Ala1814=)
c.5190C>G (p.Ala1730=)
c.3936C>G (p.Ala1312=)
 ClinVar dbSNP
16g.2088292C>TCA493043821TSC2c.*3575C>T (n.*3575C>T)
c.5073C>T (p.Ala1691=)
c.5223C>T (p.Ala1741=)
c.*5739C>T (n.*5739C>T)
c.*7975C>T (n.*7975C>T)
c.5226C>T (p.Ala1742=)
c.5157C>T (p.Ala1719=)
c.5025C>T (p.Ala1675=)
c.5058C>T (p.Ala1686=)
c.1449C>T
n.3108C>T
c.3880C>T
c.5085C>T (p.Ala1695=)
n.823C>T
c.5028C>T (p.Ala1676=)
c.5094C>T (p.Ala1698=)
c.5019C>T (p.Ala1673=)
n.2874C>T
c.5151C>T (p.Ala1717=)
c.5097C>T (p.Ala1699=)
c.5112C>T (p.Ala1704=)
c.5022C>T (p.Ala1674=)
c.5147C>T
n.3310C>T
c.5220C>T (p.Ala1740=)
n.4041C>T
n.2478C>T
n.2449C>T
n.2339C>T
c.4881C>T (p.Ala1627=)
c.*4393C>T (n.*4393C>T)
c.4917C>T (p.Ala1639=)
n.2949C>T
c.1408C>T
n.2341C>T
c.5280C>T (p.Ala1760=)
c.5277C>T (p.Ala1759=)
c.5169C>T (p.Ala1723=)
c.5148C>T (p.Ala1716=)
c.4494C>T (p.Ala1498=)
c.5442C>T (p.Ala1814=)
c.5190C>T (p.Ala1730=)
c.3936C>T (p.Ala1312=)
 ClinVar
16g.2088292_2088309delCA913184879TSC2c.*3575_*3592del (n.*3575_*3592del)
c.5073_5090del (p.Arg1692_Lys1697del)
c.5223_5240del (p.Arg1742_Lys1747del)
c.*5739_*5756del (n.*5739_*5756del)
c.*7975_*7992del (n.*7975_*7992del)
c.5226_5243del (p.Arg1743_Lys1748del)
c.5157_5174del (p.Arg1720_Lys1725del)
c.5025_5042del (p.Arg1676_Lys1681del)
c.5058_5075del (p.Arg1687_Lys1692del)
c.1449_1466del
n.3108_3125del
c.3880_3897del
c.5085_5102del (p.Arg1696_Lys1701del)
n.823_840del
c.5028_5045del (p.Arg1677_Lys1682del)
c.5094_5111del (p.Arg1699_Lys1704del)
c.5019_5036del (p.Arg1674_Lys1679del)
n.2874_2891del
c.5151_5168del (p.Arg1718_Lys1723del)
c.5097_5114del (p.Arg1700_Lys1705del)
c.5112_5129del (p.Arg1705_Lys1710del)
c.5022_5039del (p.Arg1675_Lys1680del)
c.5147_5164del
n.3310_3327del
c.5220_5237del (p.Arg1741_Lys1746del)
n.4041_4058del
n.2478_2495del
n.2449_2466del
n.2339_2356del
c.4881_4898del (p.Arg1628_Lys1633del)
c.*4393_*4410del (n.*4393_*4410del)
c.4917_4934del (p.Arg1640_Lys1645del)
n.2949_2966del
c.1408_1425del
n.2341_2358del
c.5280_5297del (p.Arg1761_Lys1766del)
c.5277_5294del (p.Arg1760_Lys1765del)
c.5169_5186del (p.Arg1724_Lys1729del)
c.5148_5165del (p.Arg1717_Lys1722del)
c.4494_4511del (p.Arg1499_Lys1504del)
c.5442_5459del (p.Arg1815_Lys1820del)
c.5190_5207del (p.Arg1731_Lys1736del)
c.3936_3953del (p.Arg1313_Lys1318del)
 ClinVar dbSNP
16g.2088292_2088310delinsCCGGCTCCGCCACATCAAGCA2202032440TSC2c.*3575_*3593delinsCCGGCTCCGCCACATCAAG (n.*3575_*3593delinsCCGGCTCCGCCACATCAAG)
c.5073_5091delinsCCGGCTCCGCCACATCAAG (p.Ala1691=)
c.5223_5241delinsCCGGCTCCGCCACATCAAG (p.Ala1741=)
c.*5739_*5757delinsCCGGCTCCGCCACATCAAG (n.*5739_*5757delinsCCGGCTCCGCCACATCAAG)
c.*7975_*7993delinsCCGGCTCCGCCACATCAAG (n.*7975_*7993delinsCCGGCTCCGCCACATCAAG)
c.5226_5244delinsCCGGCTCCGCCACATCAAG (p.Ala1742=)
c.5157_5175delinsCCGGCTCCGCCACATCAAG (p.Ala1719=)
c.5025_5043delinsCCGGCTCCGCCACATCAAG (p.Ala1675=)
c.5058_5076delinsCCGGCTCCGCCACATCAAG (p.Ala1686=)
c.1449_1467delinsCCGGCTCCGCCACATCAAG
n.3108_3126delinsCCGGCTCCGCCACATCAAG
c.3880_3898delinsCCGGCTCCGCCACATCAAG
c.5085_5103delinsCCGGCTCCGCCACATCAAG (p.Ala1695=)
n.823_841delinsCCGGCTCCGCCACATCAAG
c.5028_5046delinsCCGGCTCCGCCACATCAAG (p.Ala1676=)
c.5094_5112delinsCCGGCTCCGCCACATCAAG (p.Ala1698=)
c.5019_5037delinsCCGGCTCCGCCACATCAAG (p.Ala1673=)
n.2874_2892delinsCCGGCTCCGCCACATCAAG
c.5151_5169delinsCCGGCTCCGCCACATCAAG (p.Ala1717=)
c.5097_5115delinsCCGGCTCCGCCACATCAAG (p.Ala1699=)
c.5112_5130delinsCCGGCTCCGCCACATCAAG (p.Ala1704=)
c.5022_5040delinsCCGGCTCCGCCACATCAAG (p.Ala1674=)
c.5147_5165delinsCCGGCTCCGCCACATCAAG
n.3310_3328delinsCCGGCTCCGCCACATCAAG
c.5220_5238delinsCCGGCTCCGCCACATCAAG (p.Ala1740=)
n.4041_4059delinsCCGGCTCCGCCACATCAAG
n.2478_2496delinsCCGGCTCCGCCACATCAAG
n.2449_2467delinsCCGGCTCCGCCACATCAAG
n.2339_2357delinsCCGGCTCCGCCACATCAAG
c.4881_4899delinsCCGGCTCCGCCACATCAAG (p.Ala1627=)
c.*4393_*4411delinsCCGGCTCCGCCACATCAAG (n.*4393_*4411delinsCCGGCTCCGCCACATCAAG)
c.4917_4935delinsCCGGCTCCGCCACATCAAG (p.Ala1639=)
n.2949_2967delinsCCGGCTCCGCCACATCAAG
c.1408_1426delinsCCGGCTCCGCCACATCAAG
n.2341_2359delinsCCGGCTCCGCCACATCAAG
c.5280_5298delinsCCGGCTCCGCCACATCAAG (p.Ala1760=)
c.5277_5295delinsCCGGCTCCGCCACATCAAG (p.Ala1759=)
c.5169_5187delinsCCGGCTCCGCCACATCAAG (p.Ala1723=)
c.5148_5166delinsCCGGCTCCGCCACATCAAG (p.Ala1716=)
c.4494_4512delinsCCGGCTCCGCCACATCAAG (p.Ala1498=)
c.5442_5460delinsCCGGCTCCGCCACATCAAG (p.Ala1814=)
c.5190_5208delinsCCGGCTCCGCCACATCAAG (p.Ala1730=)
c.3936_3954delinsCCGGCTCCGCCACATCAAG (p.Ala1312=)
16g.2088293C>ACA493043825TSC2c.*3576C>A (n.*3576C>A)
c.5074C>A (p.Arg1692=)
c.5224C>A (p.Arg1742=)
c.*5740C>A (n.*5740C>A)
c.*7976C>A (n.*7976C>A)
c.5227C>A (p.Arg1743=)
c.5158C>A (p.Arg1720=)
c.5026C>A (p.Arg1676=)
c.5059C>A (p.Arg1687=)
c.1450C>A
n.3109C>A
c.3881C>A
c.5086C>A (p.Arg1696=)
n.824C>A
c.5029C>A (p.Arg1677=)
c.5095C>A (p.Arg1699=)
c.5020C>A (p.Arg1674=)
n.2875C>A
c.5152C>A (p.Arg1718=)
c.5098C>A (p.Arg1700=)
c.5113C>A (p.Arg1705=)
c.5023C>A (p.Arg1675=)
c.5148C>A
n.3311C>A
c.5221C>A (p.Arg1741=)
n.4042C>A
n.2479C>A
n.2450C>A
n.2340C>A
c.4882C>A (p.Arg1628=)
c.*4394C>A (n.*4394C>A)
c.4918C>A (p.Arg1640=)
n.2950C>A
c.1409C>A
n.2342C>A
c.5281C>A (p.Arg1761=)
c.5278C>A (p.Arg1760=)
c.5170C>A (p.Arg1724=)
c.5149C>A (p.Arg1717=)
c.4495C>A (p.Arg1499=)
c.5443C>A (p.Arg1815=)
c.5191C>A (p.Arg1731=)
c.3937C>A (p.Arg1313=)
 dbSNP
16g.2088293C=CA2202032472TSC2c.*3576C= (n.*3576C=)
c.5074C= (p.Arg1692=)
c.5224C= (p.Arg1742=)
c.*5740C= (n.*5740C=)
c.*7976C= (n.*7976C=)
c.5227C= (p.Arg1743=)
c.5158C= (p.Arg1720=)
c.5026C= (p.Arg1676=)
c.5059C= (p.Arg1687=)
c.1450C=
n.3109C=
c.3881C=
c.5086C= (p.Arg1696=)
n.824C=
c.5029C= (p.Arg1677=)
c.5095C= (p.Arg1699=)
c.5020C= (p.Arg1674=)
n.2875C=
c.5152C= (p.Arg1718=)
c.5098C= (p.Arg1700=)
c.5113C= (p.Arg1705=)
c.5023C= (p.Arg1675=)
c.5148C=
n.3311C=
c.5221C= (p.Arg1741=)
n.4042C=
n.2479C=
n.2450C=
n.2340C=
c.4882C= (p.Arg1628=)
c.*4394C= (n.*4394C=)
c.4918C= (p.Arg1640=)
n.2950C=
c.1409C=
n.2342C=
c.5281C= (p.Arg1761=)
c.5278C= (p.Arg1760=)
c.5170C= (p.Arg1724=)
c.5149C= (p.Arg1717=)
c.4495C= (p.Arg1499=)
c.5443C= (p.Arg1815=)
c.5191C= (p.Arg1731=)
c.3937C= (p.Arg1313=)
16g.2088293C>GCA022207TSC2c.*3576C>G (n.*3576C>G)
c.5074C>G (p.Arg1692Gly)
c.5224C>G (p.Arg1742Gly)
c.*5740C>G (n.*5740C>G)
c.*7976C>G (n.*7976C>G)
c.5227C>G (p.Arg1743Gly)
c.5158C>G (p.Arg1720Gly)
c.5026C>G (p.Arg1676Gly)
c.5059C>G (p.Arg1687Gly)
c.1450C>G
n.3109C>G
c.3881C>G
c.5086C>G (p.Arg1696Gly)
n.824C>G
c.5029C>G (p.Arg1677Gly)
c.5095C>G (p.Arg1699Gly)
c.5020C>G (p.Arg1674Gly)
n.2875C>G
c.5152C>G (p.Arg1718Gly)
c.5098C>G (p.Arg1700Gly)
c.5113C>G (p.Arg1705Gly)
c.5023C>G (p.Arg1675Gly)
c.5148C>G
n.3311C>G
c.5221C>G (p.Arg1741Gly)
n.4042C>G
n.2479C>G
n.2450C>G
n.2340C>G
c.4882C>G (p.Arg1628Gly)
c.*4394C>G (n.*4394C>G)
c.4918C>G (p.Arg1640Gly)
n.2950C>G
c.1409C>G
n.2342C>G
c.5281C>G (p.Arg1761Gly)
c.5278C>G (p.Arg1760Gly)
c.5170C>G (p.Arg1724Gly)
c.5149C>G (p.Arg1717Gly)
c.4495C>G (p.Arg1499Gly)
c.5443C>G (p.Arg1815Gly)
c.5191C>G (p.Arg1731Gly)
c.3937C>G (p.Arg1313Gly)
 ClinVar dbSNP
16g.2088293C>TCA022213TSC2c.*3576C>T (n.*3576C>T)
c.5074C>T (p.Arg1692Trp)
c.5224C>T (p.Arg1742Trp)
c.*5740C>T (n.*5740C>T)
c.*7976C>T (n.*7976C>T)
c.5227C>T (p.Arg1743Trp)
c.5158C>T (p.Arg1720Trp)
c.5026C>T (p.Arg1676Trp)
c.5059C>T (p.Arg1687Trp)
c.1450C>T
n.3109C>T
c.3881C>T
c.5086C>T (p.Arg1696Trp)
n.824C>T
c.5029C>T (p.Arg1677Trp)
c.5095C>T (p.Arg1699Trp)
c.5020C>T (p.Arg1674Trp)
n.2875C>T
c.5152C>T (p.Arg1718Trp)
c.5098C>T (p.Arg1700Trp)
c.5113C>T (p.Arg1705Trp)
c.5023C>T (p.Arg1675Trp)
c.5148C>T
n.3311C>T
c.5221C>T (p.Arg1741Trp)
n.4042C>T
n.2479C>T
n.2450C>T
n.2340C>T
c.4882C>T (p.Arg1628Trp)
c.*4394C>T (n.*4394C>T)
c.4918C>T (p.Arg1640Trp)
n.2950C>T
c.1409C>T
n.2342C>T
c.5281C>T (p.Arg1761Trp)
c.5278C>T (p.Arg1760Trp)
c.5170C>T (p.Arg1724Trp)
c.5149C>T (p.Arg1717Trp)
c.4495C>T (p.Arg1499Trp)
c.5443C>T (p.Arg1815Trp)
c.5191C>T (p.Arg1731Trp)
c.3937C>T (p.Arg1313Trp)
 ClinVar dbSNP gnomAD v2 COSMIC COSMIC
16g.2088304_2088321dupCA620705069TSC2c.*3587_*3604dup (n.*3587_*3604dup)
c.5085_5102dup (p.Arg1700_Gln1701insHisIleLysArgLeuArg)
c.5235_5252dup (p.Arg1750_Gln1751insHisIleLysArgLeuArg)
c.*5751_*5768dup (n.*5751_*5768dup)
c.*7987_*8004dup (n.*7987_*8004dup)
c.5238_5255dup (p.Arg1751_Gln1752insHisIleLysArgLeuArg)
c.5169_5186dup (p.Arg1728_Gln1729insHisIleLysArgLeuArg)
c.5037_5054dup (p.Arg1684_Gln1685insHisIleLysArgLeuArg)
c.5070_5087dup (p.Arg1695_Gln1696insHisIleLysArgLeuArg)
c.1461_1478dup
n.3120_3137dup
c.3892_3909dup
c.5097_5114dup (p.Arg1704_Gln1705insHisIleLysArgLeuArg)
n.835_852dup
c.5040_5057dup (p.Arg1685_Gln1686insHisIleLysArgLeuArg)
c.5106_5123dup (p.Arg1707_Gln1708insHisIleLysArgLeuArg)
c.5031_5048dup (p.Arg1682_Gln1683insHisIleLysArgLeuArg)
n.2886_2903dup
c.5163_5180dup (p.Arg1726_Gln1727insHisIleLysArgLeuArg)
c.5109_5126dup (p.Arg1708_Gln1709insHisIleLysArgLeuArg)
c.5124_5141dup (p.Arg1713_Gln1714insHisIleLysArgLeuArg)
c.5034_5051dup (p.Arg1683_Gln1684insHisIleLysArgLeuArg)
c.5159_5176dup
n.3322_3339dup
c.5232_5249dup (p.Arg1749_Gln1750insHisIleLysArgLeuArg)
n.4053_4070dup
n.2490_2507dup
n.2461_2478dup
n.2351_2368dup
c.4893_4910dup (p.Arg1636_Gln1637insHisIleLysArgLeuArg)
c.*4405_*4422dup (n.*4405_*4422dup)
c.4929_4946dup (p.Arg1648_Gln1649insHisIleLysArgLeuArg)
n.2961_2978dup
c.1420_1437dup
n.2353_2370dup
c.5292_5309dup (p.Arg1769_Gln1770insHisIleLysArgLeuArg)
c.5289_5306dup (p.Arg1768_Gln1769insHisIleLysArgLeuArg)
c.5181_5198dup (p.Arg1732_Gln1733insHisIleLysArgLeuArg)
c.5160_5177dup (p.Arg1725_Gln1726insHisIleLysArgLeuArg)
c.4506_4523dup (p.Arg1507_Gln1508insHisIleLysArgLeuArg)
c.5454_5471dup (p.Arg1823_Gln1824insHisIleLysArgLeuArg)
c.5202_5219dup (p.Arg1739_Gln1740insHisIleLysArgLeuArg)
c.3948_3965dup (p.Arg1321_Gln1322insHisIleLysArgLeuArg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2088304_2088321delCA022197TSC2c.*3587_*3604del (n.*3587_*3604del)
c.5085_5102del (p.His1695_Arg1700del)
c.5235_5252del (p.His1745_Arg1750del)
c.*5751_*5768del (n.*5751_*5768del)
c.*7987_*8004del (n.*7987_*8004del)
c.5238_5255del (p.His1746_Arg1751del)
c.5169_5186del (p.His1723_Arg1728del)
c.5037_5054del (p.His1679_Arg1684del)
c.5070_5087del (p.His1690_Arg1695del)
c.1461_1478del
n.3120_3137del
c.3892_3909del
c.5097_5114del (p.His1699_Arg1704del)
n.835_852del
c.5040_5057del (p.His1680_Arg1685del)
c.5106_5123del (p.His1702_Arg1707del)
c.5031_5048del (p.His1677_Arg1682del)
n.2886_2903del
c.5163_5180del (p.His1721_Arg1726del)
c.5109_5126del (p.His1703_Arg1708del)
c.5124_5141del (p.His1708_Arg1713del)
c.5034_5051del (p.His1678_Arg1683del)
c.5159_5176del
n.3322_3339del
c.5232_5249del (p.His1744_Arg1749del)
n.4053_4070del
n.2490_2507del
n.2461_2478del
n.2351_2368del
c.4893_4910del (p.His1631_Arg1636del)
c.*4405_*4422del (n.*4405_*4422del)
c.4929_4946del (p.His1643_Arg1648del)
n.2961_2978del
c.1420_1437del
n.2353_2370del
c.5292_5309del (p.His1764_Arg1769del)
c.5289_5306del (p.His1763_Arg1768del)
c.5181_5198del (p.His1727_Arg1732del)
c.5160_5177del (p.His1720_Arg1725del)
c.4506_4523del (p.His1502_Arg1507del)
c.5454_5471del (p.His1818_Arg1823del)
c.5202_5219del (p.His1734_Arg1739del)
c.3948_3965del (p.His1316_Arg1321del)
 ClinVar dbSNP gnomAD v4 COSMIC
16g.2088294G>ACA022218TSC2c.*3577G>A (n.*3577G>A)
c.5075G>A (p.Arg1692Gln)
c.5225G>A (p.Arg1742Gln)
c.*5741G>A (n.*5741G>A)
c.*7977G>A (n.*7977G>A)
c.5228G>A (p.Arg1743Gln)
c.5159G>A (p.Arg1720Gln)
c.5027G>A (p.Arg1676Gln)
c.5060G>A (p.Arg1687Gln)
c.1451G>A
n.3110G>A
c.3882G>A
c.5087G>A (p.Arg1696Gln)
n.825G>A
c.5030G>A (p.Arg1677Gln)
c.5096G>A (p.Arg1699Gln)
c.5021G>A (p.Arg1674Gln)
n.2876G>A
c.5153G>A (p.Arg1718Gln)
c.5099G>A (p.Arg1700Gln)
c.5114G>A (p.Arg1705Gln)
c.5024G>A (p.Arg1675Gln)
c.5149G>A
n.3312G>A
c.5222G>A (p.Arg1741Gln)
n.4043G>A
n.2480G>A
n.2451G>A
n.2341G>A
c.4883G>A (p.Arg1628Gln)
c.*4395G>A (n.*4395G>A)
c.4919G>A (p.Arg1640Gln)
n.2951G>A
c.1410G>A
n.2343G>A
c.5282G>A (p.Arg1761Gln)
c.5279G>A (p.Arg1760Gln)
c.5171G>A (p.Arg1724Gln)
c.5150G>A (p.Arg1717Gln)
c.4496G>A (p.Arg1499Gln)
c.5444G>A (p.Arg1815Gln)
c.5192G>A (p.Arg1731Gln)
c.3938G>A (p.Arg1313Gln)
 ClinVar dbSNP gnomAD v2 COSMIC
16g.2088294G>CCA022224TSC2c.*3577G>C (n.*3577G>C)
c.5075G>C (p.Arg1692Pro)
c.5225G>C (p.Arg1742Pro)
c.*5741G>C (n.*5741G>C)
c.*7977G>C (n.*7977G>C)
c.5228G>C (p.Arg1743Pro)
c.5159G>C (p.Arg1720Pro)
c.5027G>C (p.Arg1676Pro)
c.5060G>C (p.Arg1687Pro)
c.1451G>C
n.3110G>C
c.3882G>C
c.5087G>C (p.Arg1696Pro)
n.825G>C
c.5030G>C (p.Arg1677Pro)
c.5096G>C (p.Arg1699Pro)
c.5021G>C (p.Arg1674Pro)
n.2876G>C
c.5153G>C (p.Arg1718Pro)
c.5099G>C (p.Arg1700Pro)
c.5114G>C (p.Arg1705Pro)
c.5024G>C (p.Arg1675Pro)
c.5149G>C
n.3312G>C
c.5222G>C (p.Arg1741Pro)
n.4043G>C
n.2480G>C
n.2451G>C
n.2341G>C
c.4883G>C (p.Arg1628Pro)
c.*4395G>C (n.*4395G>C)
c.4919G>C (p.Arg1640Pro)
n.2951G>C
c.1410G>C
n.2343G>C
c.5282G>C (p.Arg1761Pro)
c.5279G>C (p.Arg1760Pro)
c.5171G>C (p.Arg1724Pro)
c.5150G>C (p.Arg1717Pro)
c.4496G>C (p.Arg1499Pro)
c.5444G>C (p.Arg1815Pro)
c.5192G>C (p.Arg1731Pro)
c.3938G>C (p.Arg1313Pro)
 ClinVar dbSNP
16g.2088294G=CA2202032481TSC2c.*3577G= (n.*3577G=)
c.5075G= (p.Arg1692=)
c.5225G= (p.Arg1742=)
c.*5741G= (n.*5741G=)
c.*7977G= (n.*7977G=)
c.5228G= (p.Arg1743=)
c.5159G= (p.Arg1720=)
c.5027G= (p.Arg1676=)
c.5060G= (p.Arg1687=)
c.1451G=
n.3110G=
c.3882G=
c.5087G= (p.Arg1696=)
n.825G=
c.5030G= (p.Arg1677=)
c.5096G= (p.Arg1699=)
c.5021G= (p.Arg1674=)
n.2876G=
c.5153G= (p.Arg1718=)
c.5099G= (p.Arg1700=)
c.5114G= (p.Arg1705=)
c.5024G= (p.Arg1675=)
c.5149G=
n.3312G=
c.5222G= (p.Arg1741=)
n.4043G=
n.2480G=
n.2451G=
n.2341G=
c.4883G= (p.Arg1628=)
c.*4395G= (n.*4395G=)
c.4919G= (p.Arg1640=)
n.2951G=
c.1410G=
n.2343G=
c.5282G= (p.Arg1761=)
c.5279G= (p.Arg1760=)
c.5171G= (p.Arg1724=)
c.5150G= (p.Arg1717=)
c.4496G= (p.Arg1499=)
c.5444G= (p.Arg1815=)
c.5192G= (p.Arg1731=)
c.3938G= (p.Arg1313=)
16g.2088294G>TCA022229TSC2c.*3577G>T (n.*3577G>T)
c.5075G>T (p.Arg1692Leu)
c.5225G>T (p.Arg1742Leu)
c.*5741G>T (n.*5741G>T)
c.*7977G>T (n.*7977G>T)
c.5228G>T (p.Arg1743Leu)
c.5159G>T (p.Arg1720Leu)
c.5027G>T (p.Arg1676Leu)
c.5060G>T (p.Arg1687Leu)
c.1451G>T
n.3110G>T
c.3882G>T
c.5087G>T (p.Arg1696Leu)
n.825G>T
c.5030G>T (p.Arg1677Leu)
c.5096G>T (p.Arg1699Leu)
c.5021G>T (p.Arg1674Leu)
n.2876G>T
c.5153G>T (p.Arg1718Leu)
c.5099G>T (p.Arg1700Leu)
c.5114G>T (p.Arg1705Leu)
c.5024G>T (p.Arg1675Leu)
c.5149G>T
n.3312G>T
c.5222G>T (p.Arg1741Leu)
n.4043G>T
n.2480G>T
n.2451G>T
n.2341G>T
c.4883G>T (p.Arg1628Leu)
c.*4395G>T (n.*4395G>T)
c.4919G>T (p.Arg1640Leu)
n.2951G>T
c.1410G>T
n.2343G>T
c.5282G>T (p.Arg1761Leu)
c.5279G>T (p.Arg1760Leu)
c.5171G>T (p.Arg1724Leu)
c.5150G>T (p.Arg1717Leu)
c.4496G>T (p.Arg1499Leu)
c.5444G>T (p.Arg1815Leu)
c.5192G>T (p.Arg1731Leu)
c.3938G>T (p.Arg1313Leu)
 ClinVar dbSNP
16g.2088294_2088295delinsAACA645572657TSC2c.*3577_*3578delinsAA (n.*3577_*3578delinsAA)
c.5075_5076delinsAA (p.Arg1692Gln)
c.5225_5226delinsAA (p.Arg1742Gln)
c.*5741_*5742delinsAA (n.*5741_*5742delinsAA)
c.*7977_*7978delinsAA (n.*7977_*7978delinsAA)
c.5228_5229delinsAA (p.Arg1743Gln)
c.5159_5160delinsAA (p.Arg1720Gln)
c.5027_5028delinsAA (p.Arg1676Gln)
c.5060_5061delinsAA (p.Arg1687Gln)
c.1451_1452delinsAA
n.3110_3111delinsAA
c.3882_3883delinsAA
c.5087_5088delinsAA (p.Arg1696Gln)
n.825_826delinsAA
c.5030_5031delinsAA (p.Arg1677Gln)
c.5096_5097delinsAA (p.Arg1699Gln)
c.5021_5022delinsAA (p.Arg1674Gln)
n.2876_2877delinsAA
c.5153_5154delinsAA (p.Arg1718Gln)
c.5099_5100delinsAA (p.Arg1700Gln)
c.5114_5115delinsAA (p.Arg1705Gln)
c.5024_5025delinsAA (p.Arg1675Gln)
c.5149_5150delinsAA
n.3312_3313delinsAA
c.5222_5223delinsAA (p.Arg1741Gln)
n.4043_4044delinsAA
n.2480_2481delinsAA
n.2451_2452delinsAA
n.2341_2342delinsAA
c.4883_4884delinsAA (p.Arg1628Gln)
c.*4395_*4396delinsAA (n.*4395_*4396delinsAA)
c.4919_4920delinsAA (p.Arg1640Gln)
n.2951_2952delinsAA
c.1410_1411delinsAA
n.2343_2344delinsAA
c.5282_5283delinsAA (p.Arg1761Gln)
c.5279_5280delinsAA (p.Arg1760Gln)
c.5171_5172delinsAA (p.Arg1724Gln)
c.5150_5151delinsAA (p.Arg1717Gln)
c.4496_4497delinsAA (p.Arg1499Gln)
c.5444_5445delinsAA (p.Arg1815Gln)
c.5192_5193delinsAA (p.Arg1731Gln)
c.3938_3939delinsAA (p.Arg1313Gln)
 COSMIC
16g.2088295G>ACA493043827TSC2c.*3578G>A (n.*3578G>A)
c.5076G>A (p.Arg1692=)
c.5226G>A (p.Arg1742=)
c.*5742G>A (n.*5742G>A)
c.*7978G>A (n.*7978G>A)
c.5229G>A (p.Arg1743=)
c.5160G>A (p.Arg1720=)
c.5028G>A (p.Arg1676=)
c.5061G>A (p.Arg1687=)
c.1452G>A
n.3111G>A
c.3883G>A
c.5088G>A (p.Arg1696=)
n.826G>A
c.5031G>A (p.Arg1677=)
c.5097G>A (p.Arg1699=)
c.5022G>A (p.Arg1674=)
n.2877G>A
c.5154G>A (p.Arg1718=)
c.5100G>A (p.Arg1700=)
c.5115G>A (p.Arg1705=)
c.5025G>A (p.Arg1675=)
c.5150G>A
n.3313G>A
c.5223G>A (p.Arg1741=)
n.4044G>A
n.2481G>A
n.2452G>A
n.2342G>A
c.4884G>A (p.Arg1628=)
c.*4396G>A (n.*4396G>A)
c.4920G>A (p.Arg1640=)
n.2952G>A
c.1411G>A
n.2344G>A
c.5283G>A (p.Arg1761=)
c.5280G>A (p.Arg1760=)
c.5172G>A (p.Arg1724=)
c.5151G>A (p.Arg1717=)
c.4497G>A (p.Arg1499=)
c.5445G>A (p.Arg1815=)
c.5193G>A (p.Arg1731=)
c.3939G>A (p.Arg1313=)
 dbSNP
16g.2088295G>CCA493043830TSC2c.*3578G>C (n.*3578G>C)
c.5076G>C (p.Arg1692=)
c.5226G>C (p.Arg1742=)
c.*5742G>C (n.*5742G>C)
c.*7978G>C (n.*7978G>C)
c.5229G>C (p.Arg1743=)
c.5160G>C (p.Arg1720=)
c.5028G>C (p.Arg1676=)
c.5061G>C (p.Arg1687=)
c.1452G>C
n.3111G>C
c.3883G>C
c.5088G>C (p.Arg1696=)
n.826G>C
c.5031G>C (p.Arg1677=)
c.5097G>C (p.Arg1699=)
c.5022G>C (p.Arg1674=)
n.2877G>C
c.5154G>C (p.Arg1718=)
c.5100G>C (p.Arg1700=)
c.5115G>C (p.Arg1705=)
c.5025G>C (p.Arg1675=)
c.5150G>C
n.3313G>C
c.5223G>C (p.Arg1741=)
n.4044G>C
n.2481G>C
n.2452G>C
n.2342G>C
c.4884G>C (p.Arg1628=)
c.*4396G>C (n.*4396G>C)
c.4920G>C (p.Arg1640=)
n.2952G>C
c.1411G>C
n.2344G>C
c.5283G>C (p.Arg1761=)
c.5280G>C (p.Arg1760=)
c.5172G>C (p.Arg1724=)
c.5151G>C (p.Arg1717=)
c.4497G>C (p.Arg1499=)
c.5445G>C (p.Arg1815=)
c.5193G>C (p.Arg1731=)
c.3939G>C (p.Arg1313=)
 dbSNP
16g.2088295G=CA2202032493TSC2c.*3578G= (n.*3578G=)
c.5076G= (p.Arg1692=)
c.5226G= (p.Arg1742=)
c.*5742G= (n.*5742G=)
c.*7978G= (n.*7978G=)
c.5229G= (p.Arg1743=)
c.5160G= (p.Arg1720=)
c.5028G= (p.Arg1676=)
c.5061G= (p.Arg1687=)
c.1452G=
n.3111G=
c.3883G=
c.5088G= (p.Arg1696=)
n.826G=
c.5031G= (p.Arg1677=)
c.5097G= (p.Arg1699=)
c.5022G= (p.Arg1674=)
n.2877G=
c.5154G= (p.Arg1718=)
c.5100G= (p.Arg1700=)
c.5115G= (p.Arg1705=)
c.5025G= (p.Arg1675=)
c.5150G=
n.3313G=
c.5223G= (p.Arg1741=)
n.4044G=
n.2481G=
n.2452G=
n.2342G=
c.4884G= (p.Arg1628=)
c.*4396G= (n.*4396G=)
c.4920G= (p.Arg1640=)
n.2952G=
c.1411G=
n.2344G=
c.5283G= (p.Arg1761=)
c.5280G= (p.Arg1760=)
c.5172G= (p.Arg1724=)
c.5151G= (p.Arg1717=)
c.4497G= (p.Arg1499=)
c.5445G= (p.Arg1815=)
c.5193G= (p.Arg1731=)
c.3939G= (p.Arg1313=)
16g.2088295G>TCA493043828TSC2c.*3578G>T (n.*3578G>T)
c.5076G>T (p.Arg1692=)
c.5226G>T (p.Arg1742=)
c.*5742G>T (n.*5742G>T)
c.*7978G>T (n.*7978G>T)
c.5229G>T (p.Arg1743=)
c.5160G>T (p.Arg1720=)
c.5028G>T (p.Arg1676=)
c.5061G>T (p.Arg1687=)
c.1452G>T
n.3111G>T
c.3883G>T
c.5088G>T (p.Arg1696=)
n.826G>T
c.5031G>T (p.Arg1677=)
c.5097G>T (p.Arg1699=)
c.5022G>T (p.Arg1674=)
n.2877G>T
c.5154G>T (p.Arg1718=)
c.5100G>T (p.Arg1700=)
c.5115G>T (p.Arg1705=)
c.5025G>T (p.Arg1675=)
c.5150G>T
n.3313G>T
c.5223G>T (p.Arg1741=)
n.4044G>T
n.2481G>T
n.2452G>T
n.2342G>T
c.4884G>T (p.Arg1628=)
c.*4396G>T (n.*4396G>T)
c.4920G>T (p.Arg1640=)
n.2952G>T
c.1411G>T
n.2344G>T
c.5283G>T (p.Arg1761=)
c.5280G>T (p.Arg1760=)
c.5172G>T (p.Arg1724=)
c.5151G>T (p.Arg1717=)
c.4497G>T (p.Arg1499=)
c.5445G>T (p.Arg1815=)
c.5193G>T (p.Arg1731=)
c.3939G>T (p.Arg1313=)
 dbSNP gnomAD v4
16g.2088295_2088302delinsGCTCCGCCCA2202032491TSC2c.*3578_*3585delinsGCTCCGCC (n.*3578_*3585delinsGCTCCGCC)
c.5076_5083delinsGCTCCGCC (p.Arg1692=)
c.5226_5233delinsGCTCCGCC (p.Arg1742=)
c.*5742_*5749delinsGCTCCGCC (n.*5742_*5749delinsGCTCCGCC)
c.*7978_*7985delinsGCTCCGCC (n.*7978_*7985delinsGCTCCGCC)
c.5229_5236delinsGCTCCGCC (p.Arg1743=)
c.5160_5167delinsGCTCCGCC (p.Arg1720=)
c.5028_5035delinsGCTCCGCC (p.Arg1676=)
c.5061_5068delinsGCTCCGCC (p.Arg1687=)
c.1452_1459delinsGCTCCGCC
n.3111_3118delinsGCTCCGCC
c.3883_3890delinsGCTCCGCC
c.5088_5095delinsGCTCCGCC (p.Arg1696=)
n.826_833delinsGCTCCGCC
c.5031_5038delinsGCTCCGCC (p.Arg1677=)
c.5097_5104delinsGCTCCGCC (p.Arg1699=)
c.5022_5029delinsGCTCCGCC (p.Arg1674=)
n.2877_2884delinsGCTCCGCC
c.5154_5161delinsGCTCCGCC (p.Arg1718=)
c.5100_5107delinsGCTCCGCC (p.Arg1700=)
c.5115_5122delinsGCTCCGCC (p.Arg1705=)
c.5025_5032delinsGCTCCGCC (p.Arg1675=)
c.5150_5157delinsGCTCCGCC
n.3313_3320delinsGCTCCGCC
c.5223_5230delinsGCTCCGCC (p.Arg1741=)
n.4044_4051delinsGCTCCGCC
n.2481_2488delinsGCTCCGCC
n.2452_2459delinsGCTCCGCC
n.2342_2349delinsGCTCCGCC
c.4884_4891delinsGCTCCGCC (p.Arg1628=)
c.*4396_*4403delinsGCTCCGCC (n.*4396_*4403delinsGCTCCGCC)
c.4920_4927delinsGCTCCGCC (p.Arg1640=)
n.2952_2959delinsGCTCCGCC
c.1411_1418delinsGCTCCGCC
n.2344_2351delinsGCTCCGCC
c.5283_5290delinsGCTCCGCC (p.Arg1761=)
c.5280_5287delinsGCTCCGCC (p.Arg1760=)
c.5172_5179delinsGCTCCGCC (p.Arg1724=)
c.5151_5158delinsGCTCCGCC (p.Arg1717=)
c.4497_4504delinsGCTCCGCC (p.Arg1499=)
c.5445_5452delinsGCTCCGCC (p.Arg1815=)
c.5193_5200delinsGCTCCGCC (p.Arg1731=)
c.3939_3946delinsGCTCCGCC (p.Arg1313=)
16g.2088296C>ACA394314558TSC2c.*3579C>A (n.*3579C>A)
c.5077C>A (p.Leu1693Ile)
c.5227C>A (p.Leu1743Ile)
c.*5743C>A (n.*5743C>A)
c.*7979C>A (n.*7979C>A)
c.5230C>A (p.Leu1744Ile)
c.5161C>A (p.Leu1721Ile)
c.5029C>A (p.Leu1677Ile)
c.5062C>A (p.Leu1688Ile)
c.1453C>A
n.3112C>A
c.3884C>A
c.5089C>A (p.Leu1697Ile)
n.827C>A
c.5032C>A (p.Leu1678Ile)
c.5098C>A (p.Leu1700Ile)
c.5023C>A (p.Leu1675Ile)
n.2878C>A
c.5155C>A (p.Leu1719Ile)
c.5101C>A (p.Leu1701Ile)
c.5116C>A (p.Leu1706Ile)
c.5026C>A (p.Leu1676Ile)
c.5151C>A
n.3314C>A
c.5224C>A (p.Leu1742Ile)
n.4045C>A
n.2482C>A
n.2453C>A
n.2343C>A
c.4885C>A (p.Leu1629Ile)
c.*4397C>A (n.*4397C>A)
c.4921C>A (p.Leu1641Ile)
n.2953C>A
c.1412C>A
n.2345C>A
c.5284C>A (p.Leu1762Ile)
c.5281C>A (p.Leu1761Ile)
c.5173C>A (p.Leu1725Ile)
c.5152C>A (p.Leu1718Ile)
c.4498C>A (p.Leu1500Ile)
c.5446C>A (p.Leu1816Ile)
c.5194C>A (p.Leu1732Ile)
c.3940C>A (p.Leu1314Ile)
 gnomAD v4
16g.2088296C=CA2202032502TSC2c.*3579C= (n.*3579C=)
c.5077C= (p.Leu1693=)
c.5227C= (p.Leu1743=)
c.*5743C= (n.*5743C=)
c.*7979C= (n.*7979C=)
c.5230C= (p.Leu1744=)
c.5161C= (p.Leu1721=)
c.5029C= (p.Leu1677=)
c.5062C= (p.Leu1688=)
c.1453C=
n.3112C=
c.3884C=
c.5089C= (p.Leu1697=)
n.827C=
c.5032C= (p.Leu1678=)
c.5098C= (p.Leu1700=)
c.5023C= (p.Leu1675=)
n.2878C=
c.5155C= (p.Leu1719=)
c.5101C= (p.Leu1701=)
c.5116C= (p.Leu1706=)
c.5026C= (p.Leu1676=)
c.5151C=
n.3314C=
c.5224C= (p.Leu1742=)
n.4045C=
n.2482C=
n.2453C=
n.2343C=
c.4885C= (p.Leu1629=)
c.*4397C= (n.*4397C=)
c.4921C= (p.Leu1641=)
n.2953C=
c.1412C=
n.2345C=
c.5284C= (p.Leu1762=)
c.5281C= (p.Leu1761=)
c.5173C= (p.Leu1725=)
c.5152C= (p.Leu1718=)
c.4498C= (p.Leu1500=)
c.5446C= (p.Leu1816=)
c.5194C= (p.Leu1732=)
c.3940C= (p.Leu1314=)
16g.2088296C>GCA394314564TSC2c.*3579C>G (n.*3579C>G)
c.5077C>G (p.Leu1693Val)
c.5227C>G (p.Leu1743Val)
c.*5743C>G (n.*5743C>G)
c.*7979C>G (n.*7979C>G)
c.5230C>G (p.Leu1744Val)
c.5161C>G (p.Leu1721Val)
c.5029C>G (p.Leu1677Val)
c.5062C>G (p.Leu1688Val)
c.1453C>G
n.3112C>G
c.3884C>G
c.5089C>G (p.Leu1697Val)
n.827C>G
c.5032C>G (p.Leu1678Val)
c.5098C>G (p.Leu1700Val)
c.5023C>G (p.Leu1675Val)
n.2878C>G
c.5155C>G (p.Leu1719Val)
c.5101C>G (p.Leu1701Val)
c.5116C>G (p.Leu1706Val)
c.5026C>G (p.Leu1676Val)
c.5151C>G
n.3314C>G
c.5224C>G (p.Leu1742Val)
n.4045C>G
n.2482C>G
n.2453C>G
n.2343C>G
c.4885C>G (p.Leu1629Val)
c.*4397C>G (n.*4397C>G)
c.4921C>G (p.Leu1641Val)
n.2953C>G
c.1412C>G
n.2345C>G
c.5284C>G (p.Leu1762Val)
c.5281C>G (p.Leu1761Val)
c.5173C>G (p.Leu1725Val)
c.5152C>G (p.Leu1718Val)
c.4498C>G (p.Leu1500Val)
c.5446C>G (p.Leu1816Val)
c.5194C>G (p.Leu1732Val)
c.3940C>G (p.Leu1314Val)
 ClinVar
16g.2088296C>TCA394314566TSC2c.*3579C>T (n.*3579C>T)
c.5077C>T (p.Leu1693Phe)
c.5227C>T (p.Leu1743Phe)
c.*5743C>T (n.*5743C>T)
c.*7979C>T (n.*7979C>T)
c.5230C>T (p.Leu1744Phe)
c.5161C>T (p.Leu1721Phe)
c.5029C>T (p.Leu1677Phe)
c.5062C>T (p.Leu1688Phe)
c.1453C>T
n.3112C>T
c.3884C>T
c.5089C>T (p.Leu1697Phe)
n.827C>T
c.5032C>T (p.Leu1678Phe)
c.5098C>T (p.Leu1700Phe)
c.5023C>T (p.Leu1675Phe)
n.2878C>T
c.5155C>T (p.Leu1719Phe)
c.5101C>T (p.Leu1701Phe)
c.5116C>T (p.Leu1706Phe)
c.5026C>T (p.Leu1676Phe)
c.5151C>T
n.3314C>T
c.5224C>T (p.Leu1742Phe)
n.4045C>T
n.2482C>T
n.2453C>T
n.2343C>T
c.4885C>T (p.Leu1629Phe)
c.*4397C>T (n.*4397C>T)
c.4921C>T (p.Leu1641Phe)
n.2953C>T
c.1412C>T
n.2345C>T
c.5284C>T (p.Leu1762Phe)
c.5281C>T (p.Leu1761Phe)
c.5173C>T (p.Leu1725Phe)
c.5152C>T (p.Leu1718Phe)
c.4498C>T (p.Leu1500Phe)
c.5446C>T (p.Leu1816Phe)
c.5194C>T (p.Leu1732Phe)
c.3940C>T (p.Leu1314Phe)
 ClinVar dbSNP gnomAD v4
16g.2088296_2088302delCA022235TSC2c.*3579_*3585del (n.*3579_*3585del)
c.5077_5083del (p.Leu1693ThrfsTer?)
c.5227_5233del (p.Leu1743ThrfsTer?)
c.*5743_*5749del (n.*5743_*5749del)
c.*7979_*7985del (n.*7979_*7985del)
c.5230_5236del (p.Leu1744ThrfsTer?)
c.5161_5167del (p.Leu1721ThrfsTer?)
c.5029_5035del (p.Leu1677ThrfsTer?)
c.5062_5068del (p.Leu1688ThrfsTer?)
c.1453_1459del
n.3112_3118del
c.3884_3890del
c.5089_5095del (p.Leu1697ThrfsTer?)
n.827_833del
c.5032_5038del (p.Leu1678ThrfsTer?)
c.5098_5104del (p.Leu1700ThrfsTer?)
c.5023_5029del (p.Leu1675ThrfsTer?)
n.2878_2884del
c.5155_5161del (p.Leu1719ThrfsTer?)
c.5101_5107del (p.Leu1701ThrfsTer?)
c.5116_5122del (p.Leu1706ThrfsTer?)
c.5026_5032del (p.Leu1676ThrfsTer?)
c.5151_5157del
n.3314_3320del
c.5224_5230del (p.Leu1742ThrfsTer?)
n.4045_4051del
n.2482_2488del
n.2453_2459del
n.2343_2349del
c.4885_4891del (p.Leu1629ThrfsTer?)
c.*4397_*4403del (n.*4397_*4403del)
c.4921_4927del (p.Leu1641ThrfsTer?)
n.2953_2959del
c.1412_1418del
n.2345_2351del
c.5284_5290del (p.Leu1762ThrfsTer?)
c.5281_5287del (p.Leu1761ThrfsTer?)
c.5173_5179del (p.Leu1725ThrfsTer?)
c.5152_5158del (p.Leu1718ThrfsTer?)
c.4498_4504del (p.Leu1500ThrfsTer?)
c.5446_5452del (p.Leu1816ThrfsTer?)
c.5194_5200del (p.Leu1732ThrfsTer?)
c.3940_3946del (p.Leu1314ThrfsTer?)
 ClinVar dbSNP
16g.2088297T>ACA394314567TSC2c.*3580T>A (n.*3580T>A)
c.5078T>A (p.Leu1693His)
c.5228T>A (p.Leu1743His)
c.*5744T>A (n.*5744T>A)
c.*7980T>A (n.*7980T>A)
c.5231T>A (p.Leu1744His)
c.5162T>A (p.Leu1721His)
c.5030T>A (p.Leu1677His)
c.5063T>A (p.Leu1688His)
c.1454T>A
n.3113T>A
c.3885T>A
c.5090T>A (p.Leu1697His)
n.828T>A
c.5033T>A (p.Leu1678His)
c.5099T>A (p.Leu1700His)
c.5024T>A (p.Leu1675His)
n.2879T>A
c.5156T>A (p.Leu1719His)
c.5102T>A (p.Leu1701His)
c.5117T>A (p.Leu1706His)
c.5027T>A (p.Leu1676His)
c.5152T>A
n.3315T>A
c.5225T>A (p.Leu1742His)
n.4046T>A
n.2483T>A
n.2454T>A
n.2344T>A
c.4886T>A (p.Leu1629His)
c.*4398T>A (n.*4398T>A)
c.4922T>A (p.Leu1641His)
n.2954T>A
c.1413T>A
n.2346T>A
c.5285T>A (p.Leu1762His)
c.5282T>A (p.Leu1761His)
c.5174T>A (p.Leu1725His)
c.5153T>A (p.Leu1718His)
c.4499T>A (p.Leu1500His)
c.5447T>A (p.Leu1816His)
c.5195T>A (p.Leu1732His)
c.3941T>A (p.Leu1314His)
 dbSNP
16g.2088297T>CCA022245TSC2c.*3580T>C (n.*3580T>C)
c.5078T>C (p.Leu1693Pro)
c.5228T>C (p.Leu1743Pro)
c.*5744T>C (n.*5744T>C)
c.*7980T>C (n.*7980T>C)
c.5231T>C (p.Leu1744Pro)
c.5162T>C (p.Leu1721Pro)
c.5030T>C (p.Leu1677Pro)
c.5063T>C (p.Leu1688Pro)
c.1454T>C
n.3113T>C
c.3885T>C
c.5090T>C (p.Leu1697Pro)
n.828T>C
c.5033T>C (p.Leu1678Pro)
c.5099T>C (p.Leu1700Pro)
c.5024T>C (p.Leu1675Pro)
n.2879T>C
c.5156T>C (p.Leu1719Pro)
c.5102T>C (p.Leu1701Pro)
c.5117T>C (p.Leu1706Pro)
c.5027T>C (p.Leu1676Pro)
c.5152T>C
n.3315T>C
c.5225T>C (p.Leu1742Pro)
n.4046T>C
n.2483T>C
n.2454T>C
n.2344T>C
c.4886T>C (p.Leu1629Pro)
c.*4398T>C (n.*4398T>C)
c.4922T>C (p.Leu1641Pro)
n.2954T>C
c.1413T>C
n.2346T>C
c.5285T>C (p.Leu1762Pro)
c.5282T>C (p.Leu1761Pro)
c.5174T>C (p.Leu1725Pro)
c.5153T>C (p.Leu1718Pro)
c.4499T>C (p.Leu1500Pro)
c.5447T>C (p.Leu1816Pro)
c.5195T>C (p.Leu1732Pro)
c.3941T>C (p.Leu1314Pro)
 ClinVar dbSNP
16g.2088297T>GCA394314569TSC2c.*3580T>G (n.*3580T>G)
c.5078T>G (p.Leu1693Arg)
c.5228T>G (p.Leu1743Arg)
c.*5744T>G (n.*5744T>G)
c.*7980T>G (n.*7980T>G)
c.5231T>G (p.Leu1744Arg)
c.5162T>G (p.Leu1721Arg)
c.5030T>G (p.Leu1677Arg)
c.5063T>G (p.Leu1688Arg)
c.1454T>G
n.3113T>G
c.3885T>G
c.5090T>G (p.Leu1697Arg)
n.828T>G
c.5033T>G (p.Leu1678Arg)
c.5099T>G (p.Leu1700Arg)
c.5024T>G (p.Leu1675Arg)
n.2879T>G
c.5156T>G (p.Leu1719Arg)
c.5102T>G (p.Leu1701Arg)
c.5117T>G (p.Leu1706Arg)
c.5027T>G (p.Leu1676Arg)
c.5152T>G
n.3315T>G
c.5225T>G (p.Leu1742Arg)
n.4046T>G
n.2483T>G
n.2454T>G
n.2344T>G
c.4886T>G (p.Leu1629Arg)
c.*4398T>G (n.*4398T>G)
c.4922T>G (p.Leu1641Arg)
n.2954T>G
c.1413T>G
n.2346T>G
c.5285T>G (p.Leu1762Arg)
c.5282T>G (p.Leu1761Arg)
c.5174T>G (p.Leu1725Arg)
c.5153T>G (p.Leu1718Arg)
c.4499T>G (p.Leu1500Arg)
c.5447T>G (p.Leu1816Arg)
c.5195T>G (p.Leu1732Arg)
c.3941T>G (p.Leu1314Arg)
 dbSNP gnomAD v4
16g.2088297T=CA2202032520TSC2c.*3580T= (n.*3580T=)
c.5078T= (p.Leu1693=)
c.5228T= (p.Leu1743=)
c.*5744T= (n.*5744T=)
c.*7980T= (n.*7980T=)
c.5231T= (p.Leu1744=)
c.5162T= (p.Leu1721=)
c.5030T= (p.Leu1677=)
c.5063T= (p.Leu1688=)
c.1454T=
n.3113T=
c.3885T=
c.5090T= (p.Leu1697=)
n.828T=
c.5033T= (p.Leu1678=)
c.5099T= (p.Leu1700=)
c.5024T= (p.Leu1675=)
n.2879T=
c.5156T= (p.Leu1719=)
c.5102T= (p.Leu1701=)
c.5117T= (p.Leu1706=)
c.5027T= (p.Leu1676=)
c.5152T=
n.3315T=
c.5225T= (p.Leu1742=)
n.4046T=
n.2483T=
n.2454T=
n.2344T=
c.4886T= (p.Leu1629=)
c.*4398T= (n.*4398T=)
c.4922T= (p.Leu1641=)
n.2954T=
c.1413T=
n.2346T=
c.5285T= (p.Leu1762=)
c.5282T= (p.Leu1761=)
c.5174T= (p.Leu1725=)
c.5153T= (p.Leu1718=)
c.4499T= (p.Leu1500=)
c.5447T= (p.Leu1816=)
c.5195T= (p.Leu1732=)
c.3941T= (p.Leu1314=)
16g.2088298C>ACA493043831TSC2c.*3581C>A (n.*3581C>A)
c.5079C>A (p.Leu1693=)
c.5229C>A (p.Leu1743=)
c.*5745C>A (n.*5745C>A)
c.*7981C>A (n.*7981C>A)
c.5232C>A (p.Leu1744=)
c.5163C>A (p.Leu1721=)
c.5031C>A (p.Leu1677=)
c.5064C>A (p.Leu1688=)
c.1455C>A
n.3114C>A
c.3886C>A
c.5091C>A (p.Leu1697=)
n.829C>A
c.5034C>A (p.Leu1678=)
c.5100C>A (p.Leu1700=)
c.5025C>A (p.Leu1675=)
n.2880C>A
c.5157C>A (p.Leu1719=)
c.5103C>A (p.Leu1701=)
c.5118C>A (p.Leu1706=)
c.5028C>A (p.Leu1676=)
c.5153C>A
n.3316C>A
c.5226C>A (p.Leu1742=)
n.4047C>A
n.2484C>A
n.2455C>A
n.2345C>A
c.4887C>A (p.Leu1629=)
c.*4399C>A (n.*4399C>A)
c.4923C>A (p.Leu1641=)
n.2955C>A
c.1414C>A
n.2347C>A
c.5286C>A (p.Leu1762=)
c.5283C>A (p.Leu1761=)
c.5175C>A (p.Leu1725=)
c.5154C>A (p.Leu1718=)
c.4500C>A (p.Leu1500=)
c.5448C>A (p.Leu1816=)
c.5196C>A (p.Leu1732=)
c.3942C>A (p.Leu1314=)
 dbSNP
16g.2088298C=CA2202032531TSC2c.*3581C= (n.*3581C=)
c.5079C= (p.Leu1693=)
c.5229C= (p.Leu1743=)
c.*5745C= (n.*5745C=)
c.*7981C= (n.*7981C=)
c.5232C= (p.Leu1744=)
c.5163C= (p.Leu1721=)
c.5031C= (p.Leu1677=)
c.5064C= (p.Leu1688=)
c.1455C=
n.3114C=
c.3886C=
c.5091C= (p.Leu1697=)
n.829C=
c.5034C= (p.Leu1678=)
c.5100C= (p.Leu1700=)
c.5025C= (p.Leu1675=)
n.2880C=
c.5157C= (p.Leu1719=)
c.5103C= (p.Leu1701=)
c.5118C= (p.Leu1706=)
c.5028C= (p.Leu1676=)
c.5153C=
n.3316C=
c.5226C= (p.Leu1742=)
n.4047C=
n.2484C=
n.2455C=
n.2345C=
c.4887C= (p.Leu1629=)
c.*4399C= (n.*4399C=)
c.4923C= (p.Leu1641=)
n.2955C=
c.1414C=
n.2347C=
c.5286C= (p.Leu1762=)
c.5283C= (p.Leu1761=)
c.5175C= (p.Leu1725=)
c.5154C= (p.Leu1718=)
c.4500C= (p.Leu1500=)
c.5448C= (p.Leu1816=)
c.5196C= (p.Leu1732=)
c.3942C= (p.Leu1314=)
16g.2088298C>GCA493043833TSC2c.*3581C>G (n.*3581C>G)
c.5079C>G (p.Leu1693=)
c.5229C>G (p.Leu1743=)
c.*5745C>G (n.*5745C>G)
c.*7981C>G (n.*7981C>G)
c.5232C>G (p.Leu1744=)
c.5163C>G (p.Leu1721=)
c.5031C>G (p.Leu1677=)
c.5064C>G (p.Leu1688=)
c.1455C>G
n.3114C>G
c.3886C>G
c.5091C>G (p.Leu1697=)
n.829C>G
c.5034C>G (p.Leu1678=)
c.5100C>G (p.Leu1700=)
c.5025C>G (p.Leu1675=)
n.2880C>G
c.5157C>G (p.Leu1719=)
c.5103C>G (p.Leu1701=)
c.5118C>G (p.Leu1706=)
c.5028C>G (p.Leu1676=)
c.5153C>G
n.3316C>G
c.5226C>G (p.Leu1742=)
n.4047C>G
n.2484C>G
n.2455C>G
n.2345C>G
c.4887C>G (p.Leu1629=)
c.*4399C>G (n.*4399C>G)
c.4923C>G (p.Leu1641=)
n.2955C>G
c.1414C>G
n.2347C>G
c.5286C>G (p.Leu1762=)
c.5283C>G (p.Leu1761=)
c.5175C>G (p.Leu1725=)
c.5154C>G (p.Leu1718=)
c.4500C>G (p.Leu1500=)
c.5448C>G (p.Leu1816=)
c.5196C>G (p.Leu1732=)
c.3942C>G (p.Leu1314=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.2088298C>TCA054515TSC2c.*3581C>T (n.*3581C>T)
c.5079C>T (p.Leu1693=)
c.5229C>T (p.Leu1743=)
c.*5745C>T (n.*5745C>T)
c.*7981C>T (n.*7981C>T)
c.5232C>T (p.Leu1744=)
c.5163C>T (p.Leu1721=)
c.5031C>T (p.Leu1677=)
c.5064C>T (p.Leu1688=)
c.1455C>T
n.3114C>T
c.3886C>T
c.5091C>T (p.Leu1697=)
n.829C>T
c.5034C>T (p.Leu1678=)
c.5100C>T (p.Leu1700=)
c.5025C>T (p.Leu1675=)
n.2880C>T
c.5157C>T (p.Leu1719=)
c.5103C>T (p.Leu1701=)
c.5118C>T (p.Leu1706=)
c.5028C>T (p.Leu1676=)
c.5153C>T
n.3316C>T
c.5226C>T (p.Leu1742=)
n.4047C>T
n.2484C>T
n.2455C>T
n.2345C>T
c.4887C>T (p.Leu1629=)
c.*4399C>T (n.*4399C>T)
c.4923C>T (p.Leu1641=)
n.2955C>T
c.1414C>T
n.2347C>T
c.5286C>T (p.Leu1762=)
c.5283C>T (p.Leu1761=)
c.5175C>T (p.Leu1725=)
c.5154C>T (p.Leu1718=)
c.4500C>T (p.Leu1500=)
c.5448C>T (p.Leu1816=)
c.5196C>T (p.Leu1732=)
c.3942C>T (p.Leu1314=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2088298_2088303delinsCCGCCACA2202032528TSC2c.*3581_*3586delinsCCGCCA (n.*3581_*3586delinsCCGCCA)
c.5079_5084delinsCCGCCA (p.Leu1693=)
c.5229_5234delinsCCGCCA (p.Leu1743=)
c.*5745_*5750delinsCCGCCA (n.*5745_*5750delinsCCGCCA)
c.*7981_*7986delinsCCGCCA (n.*7981_*7986delinsCCGCCA)
c.5232_5237delinsCCGCCA (p.Leu1744=)
c.5163_5168delinsCCGCCA (p.Leu1721=)
c.5031_5036delinsCCGCCA (p.Leu1677=)
c.5064_5069delinsCCGCCA (p.Leu1688=)
c.1455_1460delinsCCGCCA
n.3114_3119delinsCCGCCA
c.3886_3891delinsCCGCCA
c.5091_5096delinsCCGCCA (p.Leu1697=)
n.829_834delinsCCGCCA
c.5034_5039delinsCCGCCA (p.Leu1678=)
c.5100_5105delinsCCGCCA (p.Leu1700=)
c.5025_5030delinsCCGCCA (p.Leu1675=)
n.2880_2885delinsCCGCCA
c.5157_5162delinsCCGCCA (p.Leu1719=)
c.5103_5108delinsCCGCCA (p.Leu1701=)
c.5118_5123delinsCCGCCA (p.Leu1706=)
c.5028_5033delinsCCGCCA (p.Leu1676=)
c.5153_5158delinsCCGCCA
n.3316_3321delinsCCGCCA
c.5226_5231delinsCCGCCA (p.Leu1742=)
n.4047_4052delinsCCGCCA
n.2484_2489delinsCCGCCA
n.2455_2460delinsCCGCCA
n.2345_2350delinsCCGCCA
c.4887_4892delinsCCGCCA (p.Leu1629=)
c.*4399_*4404delinsCCGCCA (n.*4399_*4404delinsCCGCCA)
c.4923_4928delinsCCGCCA (p.Leu1641=)
n.2955_2960delinsCCGCCA
c.1414_1419delinsCCGCCA
n.2347_2352delinsCCGCCA
c.5286_5291delinsCCGCCA (p.Leu1762=)
c.5283_5288delinsCCGCCA (p.Leu1761=)
c.5175_5180delinsCCGCCA (p.Leu1725=)
c.5154_5159delinsCCGCCA (p.Leu1718=)
c.4500_4505delinsCCGCCA (p.Leu1500=)
c.5448_5453delinsCCGCCA (p.Leu1816=)
c.5196_5201delinsCCGCCA (p.Leu1732=)
c.3942_3947delinsCCGCCA (p.Leu1314=)
16g.2088298_2088306delinsCCGCCACATCA2202032547TSC2c.*3581_*3589delinsCCGCCACAT (n.*3581_*3589delinsCCGCCACAT)
c.5079_5087delinsCCGCCACAT (p.Leu1693=)
c.5229_5237delinsCCGCCACAT (p.Leu1743=)
c.*5745_*5753delinsCCGCCACAT (n.*5745_*5753delinsCCGCCACAT)
c.*7981_*7989delinsCCGCCACAT (n.*7981_*7989delinsCCGCCACAT)
c.5232_5240delinsCCGCCACAT (p.Leu1744=)
c.5163_5171delinsCCGCCACAT (p.Leu1721=)
c.5031_5039delinsCCGCCACAT (p.Leu1677=)
c.5064_5072delinsCCGCCACAT (p.Leu1688=)
c.1455_1463delinsCCGCCACAT
n.3114_3122delinsCCGCCACAT
c.3886_3894delinsCCGCCACAT
c.5091_5099delinsCCGCCACAT (p.Leu1697=)
n.829_837delinsCCGCCACAT
c.5034_5042delinsCCGCCACAT (p.Leu1678=)
c.5100_5108delinsCCGCCACAT (p.Leu1700=)
c.5025_5033delinsCCGCCACAT (p.Leu1675=)
n.2880_2888delinsCCGCCACAT
c.5157_5165delinsCCGCCACAT (p.Leu1719=)
c.5103_5111delinsCCGCCACAT (p.Leu1701=)
c.5118_5126delinsCCGCCACAT (p.Leu1706=)
c.5028_5036delinsCCGCCACAT (p.Leu1676=)
c.5153_5161delinsCCGCCACAT
n.3316_3324delinsCCGCCACAT
c.5226_5234delinsCCGCCACAT (p.Leu1742=)
n.4047_4055delinsCCGCCACAT
n.2484_2492delinsCCGCCACAT
n.2455_2463delinsCCGCCACAT
n.2345_2353delinsCCGCCACAT
c.4887_4895delinsCCGCCACAT (p.Leu1629=)
c.*4399_*4407delinsCCGCCACAT (n.*4399_*4407delinsCCGCCACAT)
c.4923_4931delinsCCGCCACAT (p.Leu1641=)
n.2955_2963delinsCCGCCACAT
c.1414_1422delinsCCGCCACAT
n.2347_2355delinsCCGCCACAT
c.5286_5294delinsCCGCCACAT (p.Leu1762=)
c.5283_5291delinsCCGCCACAT (p.Leu1761=)
c.5175_5183delinsCCGCCACAT (p.Leu1725=)
c.5154_5162delinsCCGCCACAT (p.Leu1718=)
c.4500_4508delinsCCGCCACAT (p.Leu1500=)
c.5448_5456delinsCCGCCACAT (p.Leu1816=)
c.5196_5204delinsCCGCCACAT (p.Leu1732=)
c.3942_3950delinsCCGCCACAT (p.Leu1314=)
16g.2088299C>ACA394314574TSC2c.*3582C>A (n.*3582C>A)
c.5080C>A (p.Arg1694Ser)
c.5230C>A (p.Arg1744Ser)
c.*5746C>A (n.*5746C>A)
c.*7982C>A (n.*7982C>A)
c.5233C>A (p.Arg1745Ser)
c.5164C>A (p.Arg1722Ser)
c.5032C>A (p.Arg1678Ser)
c.5065C>A (p.Arg1689Ser)
c.1456C>A
n.3115C>A
c.3887C>A
c.5092C>A (p.Arg1698Ser)
n.830C>A
c.5035C>A (p.Arg1679Ser)
c.5101C>A (p.Arg1701Ser)
c.5026C>A (p.Arg1676Ser)
n.2881C>A
c.5158C>A (p.Arg1720Ser)
c.5104C>A (p.Arg1702Ser)
c.5119C>A (p.Arg1707Ser)
c.5029C>A (p.Arg1677Ser)
c.5154C>A
n.3317C>A
c.5227C>A (p.Arg1743Ser)
n.4048C>A
n.2485C>A
n.2456C>A
n.2346C>A
c.4888C>A (p.Arg1630Ser)
c.*4400C>A (n.*4400C>A)
c.4924C>A (p.Arg1642Ser)
n.2956C>A
c.1415C>A
n.2348C>A
c.5287C>A (p.Arg1763Ser)
c.5284C>A (p.Arg1762Ser)
c.5176C>A (p.Arg1726Ser)
c.5155C>A (p.Arg1719Ser)
c.4501C>A (p.Arg1501Ser)
c.5449C>A (p.Arg1817Ser)
c.5197C>A (p.Arg1733Ser)
c.3943C>A (p.Arg1315Ser)
 dbSNP gnomAD v4
16g.2088299C=CA2202032567TSC2c.*3582C= (n.*3582C=)
c.5080C= (p.Arg1694=)
c.5230C= (p.Arg1744=)
c.*5746C= (n.*5746C=)
c.*7982C= (n.*7982C=)
c.5233C= (p.Arg1745=)
c.5164C= (p.Arg1722=)
c.5032C= (p.Arg1678=)
c.5065C= (p.Arg1689=)
c.1456C=
n.3115C=
c.3887C=
c.5092C= (p.Arg1698=)
n.830C=
c.5035C= (p.Arg1679=)
c.5101C= (p.Arg1701=)
c.5026C= (p.Arg1676=)
n.2881C=
c.5158C= (p.Arg1720=)
c.5104C= (p.Arg1702=)
c.5119C= (p.Arg1707=)
c.5029C= (p.Arg1677=)
c.5154C=
n.3317C=
c.5227C= (p.Arg1743=)
n.4048C=
n.2485C=
n.2456C=
n.2346C=
c.4888C= (p.Arg1630=)
c.*4400C= (n.*4400C=)
c.4924C= (p.Arg1642=)
n.2956C=
c.1415C=
n.2348C=
c.5287C= (p.Arg1763=)
c.5284C= (p.Arg1762=)
c.5176C= (p.Arg1726=)
c.5155C= (p.Arg1719=)
c.4501C= (p.Arg1501=)
c.5449C= (p.Arg1817=)
c.5197C= (p.Arg1733=)
c.3943C= (p.Arg1315=)
16g.2088299C>GCA394314576TSC2c.*3582C>G (n.*3582C>G)
c.5080C>G (p.Arg1694Gly)
c.5230C>G (p.Arg1744Gly)
c.*5746C>G (n.*5746C>G)
c.*7982C>G (n.*7982C>G)
c.5233C>G (p.Arg1745Gly)
c.5164C>G (p.Arg1722Gly)
c.5032C>G (p.Arg1678Gly)
c.5065C>G (p.Arg1689Gly)
c.1456C>G
n.3115C>G
c.3887C>G
c.5092C>G (p.Arg1698Gly)
n.830C>G
c.5035C>G (p.Arg1679Gly)
c.5101C>G (p.Arg1701Gly)
c.5026C>G (p.Arg1676Gly)
n.2881C>G
c.5158C>G (p.Arg1720Gly)
c.5104C>G (p.Arg1702Gly)
c.5119C>G (p.Arg1707Gly)
c.5029C>G (p.Arg1677Gly)
c.5154C>G
n.3317C>G
c.5227C>G (p.Arg1743Gly)
n.4048C>G
n.2485C>G
n.2456C>G
n.2346C>G
c.4888C>G (p.Arg1630Gly)
c.*4400C>G (n.*4400C>G)
c.4924C>G (p.Arg1642Gly)
n.2956C>G
c.1415C>G
n.2348C>G
c.5287C>G (p.Arg1763Gly)
c.5284C>G (p.Arg1762Gly)
c.5176C>G (p.Arg1726Gly)
c.5155C>G (p.Arg1719Gly)
c.4501C>G (p.Arg1501Gly)
c.5449C>G (p.Arg1817Gly)
c.5197C>G (p.Arg1733Gly)
c.3943C>G (p.Arg1315Gly)
 dbSNP
16g.2088299C>TCA054522TSC2c.*3582C>T (n.*3582C>T)
c.5080C>T (p.Arg1694Cys)
c.5230C>T (p.Arg1744Cys)
c.*5746C>T (n.*5746C>T)
c.*7982C>T (n.*7982C>T)
c.5233C>T (p.Arg1745Cys)
c.5164C>T (p.Arg1722Cys)
c.5032C>T (p.Arg1678Cys)
c.5065C>T (p.Arg1689Cys)
c.1456C>T
n.3115C>T
c.3887C>T
c.5092C>T (p.Arg1698Cys)
n.830C>T
c.5035C>T (p.Arg1679Cys)
c.5101C>T (p.Arg1701Cys)
c.5026C>T (p.Arg1676Cys)
n.2881C>T
c.5158C>T (p.Arg1720Cys)
c.5104C>T (p.Arg1702Cys)
c.5119C>T (p.Arg1707Cys)
c.5029C>T (p.Arg1677Cys)
c.5154C>T
n.3317C>T
c.5227C>T (p.Arg1743Cys)
n.4048C>T
n.2485C>T
n.2456C>T
n.2346C>T
c.4888C>T (p.Arg1630Cys)
c.*4400C>T (n.*4400C>T)
c.4924C>T (p.Arg1642Cys)
n.2956C>T
c.1415C>T
n.2348C>T
c.5287C>T (p.Arg1763Cys)
c.5284C>T (p.Arg1762Cys)
c.5176C>T (p.Arg1726Cys)
c.5155C>T (p.Arg1719Cys)
c.4501C>T (p.Arg1501Cys)
c.5449C>T (p.Arg1817Cys)
c.5197C>T (p.Arg1733Cys)
c.3943C>T (p.Arg1315Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
16g.2088299_2088303delinsCGCCACA2202032563TSC2c.*3582_*3586delinsCGCCA (n.*3582_*3586delinsCGCCA)
c.5080_5084delinsCGCCA (p.Arg1694=)
c.5230_5234delinsCGCCA (p.Arg1744=)
c.*5746_*5750delinsCGCCA (n.*5746_*5750delinsCGCCA)
c.*7982_*7986delinsCGCCA (n.*7982_*7986delinsCGCCA)
c.5233_5237delinsCGCCA (p.Arg1745=)
c.5164_5168delinsCGCCA (p.Arg1722=)
c.5032_5036delinsCGCCA (p.Arg1678=)
c.5065_5069delinsCGCCA (p.Arg1689=)
c.1456_1460delinsCGCCA
n.3115_3119delinsCGCCA
c.3887_3891delinsCGCCA
c.5092_5096delinsCGCCA (p.Arg1698=)
n.830_834delinsCGCCA
c.5035_5039delinsCGCCA (p.Arg1679=)
c.5101_5105delinsCGCCA (p.Arg1701=)
c.5026_5030delinsCGCCA (p.Arg1676=)
n.2881_2885delinsCGCCA
c.5158_5162delinsCGCCA (p.Arg1720=)
c.5104_5108delinsCGCCA (p.Arg1702=)
c.5119_5123delinsCGCCA (p.Arg1707=)
c.5029_5033delinsCGCCA (p.Arg1677=)
c.5154_5158delinsCGCCA
n.3317_3321delinsCGCCA
c.5227_5231delinsCGCCA (p.Arg1743=)
n.4048_4052delinsCGCCA
n.2485_2489delinsCGCCA
n.2456_2460delinsCGCCA
n.2346_2350delinsCGCCA
c.4888_4892delinsCGCCA (p.Arg1630=)
c.*4400_*4404delinsCGCCA (n.*4400_*4404delinsCGCCA)
c.4924_4928delinsCGCCA (p.Arg1642=)
n.2956_2960delinsCGCCA
c.1415_1419delinsCGCCA
n.2348_2352delinsCGCCA
c.5287_5291delinsCGCCA (p.Arg1763=)
c.5284_5288delinsCGCCA (p.Arg1762=)
c.5176_5180delinsCGCCA (p.Arg1726=)
c.5155_5159delinsCGCCA (p.Arg1719=)
c.4501_4505delinsCGCCA (p.Arg1501=)
c.5449_5453delinsCGCCA (p.Arg1817=)
c.5197_5201delinsCGCCA (p.Arg1733=)
c.3943_3947delinsCGCCA (p.Arg1315=)
16g.2088300_2088304delCA022250TSC2c.*3583_*3587del (n.*3583_*3587del)
c.5081_5085del (p.Arg1694HisfsTer28)
c.5231_5235del (p.Arg1744HisfsTer28)
c.*5747_*5751del (n.*5747_*5751del)
c.*7983_*7987del (n.*7983_*7987del)
c.5234_5238del (p.Arg1745HisfsTer28)
c.5165_5169del (p.Arg1722HisfsTer28)
c.5033_5037del (p.Arg1678HisfsTer28)
c.5066_5070del (p.Arg1689HisfsTer28)
c.1457_1461del
n.3116_3120del
c.3888_3892del
c.5093_5097del (p.Arg1698HisfsTer28)
n.831_835del
c.5036_5040del (p.Arg1679HisfsTer28)
c.5102_5106del (p.Arg1701HisfsTer28)
c.5027_5031del (p.Arg1676HisfsTer28)
n.2882_2886del
c.5159_5163del (p.Arg1720HisfsTer28)
c.5105_5109del (p.Arg1702HisfsTer28)
c.5120_5124del (p.Arg1707HisfsTer28)
c.5030_5034del (p.Arg1677HisfsTer28)
c.5155_5159del
n.3318_3322del
c.5228_5232del (p.Arg1743HisfsTer28)
n.4049_4053del
n.2486_2490del
n.2457_2461del
n.2347_2351del
c.4889_4893del (p.Arg1630HisfsTer28)
c.*4401_*4405del (n.*4401_*4405del)
c.4925_4929del (p.Arg1642HisfsTer28)
n.2957_2961del
c.1416_1420del
n.2349_2353del
c.5288_5292del (p.Arg1763HisfsTer28)
c.5285_5289del (p.Arg1762HisfsTer28)
c.5177_5181del (p.Arg1726HisfsTer28)
c.5156_5160del (p.Arg1719HisfsTer28)
c.4502_4506del (p.Arg1501HisfsTer28)
c.5450_5454del (p.Arg1817HisfsTer28)
c.5198_5202del (p.Arg1733HisfsTer28)
c.3944_3948del (p.Arg1315HisfsTer28)
 ClinVar dbSNP
16g.2088300_2088307delCA916081800TSC2c.*3583_*3590del (n.*3583_*3590del)
c.5081_5088del (p.Arg1694GlnfsTer27)
c.5231_5238del (p.Arg1744GlnfsTer27)
c.*5747_*5754del (n.*5747_*5754del)
c.*7983_*7990del (n.*7983_*7990del)
c.5234_5241del (p.Arg1745GlnfsTer27)
c.5165_5172del (p.Arg1722GlnfsTer27)
c.5033_5040del (p.Arg1678GlnfsTer27)
c.5066_5073del (p.Arg1689GlnfsTer27)
c.1457_1464del
n.3116_3123del
c.3888_3895del
c.5093_5100del (p.Arg1698GlnfsTer27)
n.831_838del
c.5036_5043del (p.Arg1679GlnfsTer27)
c.5102_5109del (p.Arg1701GlnfsTer27)
c.5027_5034del (p.Arg1676GlnfsTer27)
n.2882_2889del
c.5159_5166del (p.Arg1720GlnfsTer27)
c.5105_5112del (p.Arg1702GlnfsTer27)
c.5120_5127del (p.Arg1707GlnfsTer27)
c.5030_5037del (p.Arg1677GlnfsTer27)
c.5155_5162del
n.3318_3325del
c.5228_5235del (p.Arg1743GlnfsTer27)
n.4049_4056del
n.2486_2493del
n.2457_2464del
n.2347_2354del
c.4889_4896del (p.Arg1630GlnfsTer27)
c.*4401_*4408del (n.*4401_*4408del)
c.4925_4932del (p.Arg1642GlnfsTer27)
n.2957_2964del
c.1416_1423del
n.2349_2356del
c.5288_5295del (p.Arg1763GlnfsTer27)
c.5285_5292del (p.Arg1762GlnfsTer27)
c.5177_5184del (p.Arg1726GlnfsTer27)
c.5156_5163del (p.Arg1719GlnfsTer27)
c.4502_4509del (p.Arg1501GlnfsTer27)
c.5450_5457del (p.Arg1817GlnfsTer27)
c.5198_5205del (p.Arg1733GlnfsTer27)
c.3944_3951del (p.Arg1315GlnfsTer27)
 ClinVar dbSNP
16g.2088300G>ACA054529TSC2c.*3583G>A (n.*3583G>A)
c.5081G>A (p.Arg1694His)
c.5231G>A (p.Arg1744His)
c.*5747G>A (n.*5747G>A)
c.*7983G>A (n.*7983G>A)
c.5234G>A (p.Arg1745His)
c.5165G>A (p.Arg1722His)
c.5033G>A (p.Arg1678His)
c.5066G>A (p.Arg1689His)
c.1457G>A
n.3116G>A
c.3888G>A
c.5093G>A (p.Arg1698His)
n.831G>A
c.5036G>A (p.Arg1679His)
c.5102G>A (p.Arg1701His)
c.5027G>A (p.Arg1676His)
n.2882G>A
c.5159G>A (p.Arg1720His)
c.5105G>A (p.Arg1702His)
c.5120G>A (p.Arg1707His)
c.5030G>A (p.Arg1677His)
c.5155G>A
n.3318G>A
c.5228G>A (p.Arg1743His)
n.4049G>A
n.2486G>A
n.2457G>A
n.2347G>A
c.4889G>A (p.Arg1630His)
c.*4401G>A (n.*4401G>A)
c.4925G>A (p.Arg1642His)
n.2957G>A
c.1416G>A
n.2349G>A
c.5288G>A (p.Arg1763His)
c.5285G>A (p.Arg1762His)
c.5177G>A (p.Arg1726His)
c.5156G>A (p.Arg1719His)
c.4502G>A (p.Arg1501His)
c.5450G>A (p.Arg1817His)
c.5198G>A (p.Arg1733His)
c.3944G>A (p.Arg1315His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
16g.2088300G>CCA394314587TSC2c.*3583G>C (n.*3583G>C)
c.5081G>C (p.Arg1694Pro)
c.5231G>C (p.Arg1744Pro)
c.*5747G>C (n.*5747G>C)
c.*7983G>C (n.*7983G>C)
c.5234G>C (p.Arg1745Pro)
c.5165G>C (p.Arg1722Pro)
c.5033G>C (p.Arg1678Pro)
c.5066G>C (p.Arg1689Pro)
c.1457G>C
n.3116G>C
c.3888G>C
c.5093G>C (p.Arg1698Pro)
n.831G>C
c.5036G>C (p.Arg1679Pro)
c.5102G>C (p.Arg1701Pro)
c.5027G>C (p.Arg1676Pro)
n.2882G>C
c.5159G>C (p.Arg1720Pro)
c.5105G>C (p.Arg1702Pro)
c.5120G>C (p.Arg1707Pro)
c.5030G>C (p.Arg1677Pro)
c.5155G>C
n.3318G>C
c.5228G>C (p.Arg1743Pro)
n.4049G>C
n.2486G>C
n.2457G>C
n.2347G>C
c.4889G>C (p.Arg1630Pro)
c.*4401G>C (n.*4401G>C)
c.4925G>C (p.Arg1642Pro)
n.2957G>C
c.1416G>C
n.2349G>C
c.5288G>C (p.Arg1763Pro)
c.5285G>C (p.Arg1762Pro)
c.5177G>C (p.Arg1726Pro)
c.5156G>C (p.Arg1719Pro)
c.4502G>C (p.Arg1501Pro)
c.5450G>C (p.Arg1817Pro)
c.5198G>C (p.Arg1733Pro)
c.3944G>C (p.Arg1315Pro)
16g.2088300G=CA2202032586TSC2c.*3583G= (n.*3583G=)
c.5081G= (p.Arg1694=)
c.5231G= (p.Arg1744=)
c.*5747G= (n.*5747G=)
c.*7983G= (n.*7983G=)
c.5234G= (p.Arg1745=)
c.5165G= (p.Arg1722=)
c.5033G= (p.Arg1678=)
c.5066G= (p.Arg1689=)
c.1457G=
n.3116G=
c.3888G=
c.5093G= (p.Arg1698=)
n.831G=
c.5036G= (p.Arg1679=)
c.5102G= (p.Arg1701=)
c.5027G= (p.Arg1676=)
n.2882G=
c.5159G= (p.Arg1720=)
c.5105G= (p.Arg1702=)
c.5120G= (p.Arg1707=)
c.5030G= (p.Arg1677=)
c.5155G=
n.3318G=
c.5228G= (p.Arg1743=)
n.4049G=
n.2486G=
n.2457G=
n.2347G=
c.4889G= (p.Arg1630=)
c.*4401G= (n.*4401G=)
c.4925G= (p.Arg1642=)
n.2957G=
c.1416G=
n.2349G=
c.5288G= (p.Arg1763=)
c.5285G= (p.Arg1762=)
c.5177G= (p.Arg1726=)
c.5156G= (p.Arg1719=)
c.4502G= (p.Arg1501=)
c.5450G= (p.Arg1817=)
c.5198G= (p.Arg1733=)
c.3944G= (p.Arg1315=)
16g.2088300G>TCA394314591TSC2c.*3583G>T (n.*3583G>T)
c.5081G>T (p.Arg1694Leu)
c.5231G>T (p.Arg1744Leu)
c.*5747G>T (n.*5747G>T)
c.*7983G>T (n.*7983G>T)
c.5234G>T (p.Arg1745Leu)
c.5165G>T (p.Arg1722Leu)
c.5033G>T (p.Arg1678Leu)
c.5066G>T (p.Arg1689Leu)
c.1457G>T
n.3116G>T
c.3888G>T
c.5093G>T (p.Arg1698Leu)
n.831G>T
c.5036G>T (p.Arg1679Leu)
c.5102G>T (p.Arg1701Leu)
c.5027G>T (p.Arg1676Leu)
n.2882G>T
c.5159G>T (p.Arg1720Leu)
c.5105G>T (p.Arg1702Leu)
c.5120G>T (p.Arg1707Leu)
c.5030G>T (p.Arg1677Leu)
c.5155G>T
n.3318G>T
c.5228G>T (p.Arg1743Leu)
n.4049G>T
n.2486G>T
n.2457G>T
n.2347G>T
c.4889G>T (p.Arg1630Leu)
c.*4401G>T (n.*4401G>T)
c.4925G>T (p.Arg1642Leu)
n.2957G>T
c.1416G>T
n.2349G>T
c.5288G>T (p.Arg1763Leu)
c.5285G>T (p.Arg1762Leu)
c.5177G>T (p.Arg1726Leu)
c.5156G>T (p.Arg1719Leu)
c.4502G>T (p.Arg1501Leu)
c.5450G>T (p.Arg1817Leu)
c.5198G>T (p.Arg1733Leu)
c.3944G>T (p.Arg1315Leu)
 ClinVar dbSNP
16g.2088300_2088303delCA022261TSC2c.*3583_*3586del (n.*3583_*3586del)
c.5081_5084del (p.Arg1694ProfsTer?)
c.5231_5234del (p.Arg1744ProfsTer?)
c.*5747_*5750del (n.*5747_*5750del)
c.*7983_*7986del (n.*7983_*7986del)
c.5234_5237del (p.Arg1745ProfsTer?)
c.5165_5168del (p.Arg1722ProfsTer?)
c.5033_5036del (p.Arg1678ProfsTer?)
c.5066_5069del (p.Arg1689ProfsTer?)
c.1457_1460del
n.3116_3119del
c.3888_3891del
c.5093_5096del (p.Arg1698ProfsTer?)
n.831_834del
c.5036_5039del (p.Arg1679ProfsTer?)
c.5102_5105del (p.Arg1701ProfsTer?)
c.5027_5030del (p.Arg1676ProfsTer?)
n.2882_2885del
c.5159_5162del (p.Arg1720ProfsTer?)
c.5105_5108del (p.Arg1702ProfsTer?)
c.5120_5123del (p.Arg1707ProfsTer?)
c.5030_5033del (p.Arg1677ProfsTer?)
c.5155_5158del
n.3318_3321del
c.5228_5231del (p.Arg1743ProfsTer?)
n.4049_4052del
n.2486_2489del
n.2457_2460del
n.2347_2350del
c.4889_4892del (p.Arg1630ProfsTer?)
c.*4401_*4404del (n.*4401_*4404del)
c.4925_4928del (p.Arg1642ProfsTer?)
n.2957_2960del
c.1416_1419del
n.2349_2352del
c.5288_5291del (p.Arg1763ProfsTer?)
c.5285_5288del (p.Arg1762ProfsTer?)
c.5177_5180del (p.Arg1726ProfsTer?)
c.5156_5159del (p.Arg1719ProfsTer?)
c.4502_4505del (p.Arg1501ProfsTer?)
c.5450_5453del (p.Arg1817ProfsTer?)
c.5198_5201del (p.Arg1733ProfsTer?)
c.3944_3947del (p.Arg1315ProfsTer?)
 ClinVar dbSNP
16g.2088301C>ACA493043838TSC2c.*3584C>A (n.*3584C>A)
c.5082C>A (p.Arg1694=)
c.5232C>A (p.Arg1744=)
c.*5748C>A (n.*5748C>A)
c.*7984C>A (n.*7984C>A)
c.5235C>A (p.Arg1745=)
c.5166C>A (p.Arg1722=)
c.5034C>A (p.Arg1678=)
c.5067C>A (p.Arg1689=)
c.1458C>A
n.3117C>A
c.3889C>A
c.5094C>A (p.Arg1698=)
n.832C>A
c.5037C>A (p.Arg1679=)
c.5103C>A (p.Arg1701=)
c.5028C>A (p.Arg1676=)
n.2883C>A
c.5160C>A (p.Arg1720=)
c.5106C>A (p.Arg1702=)
c.5121C>A (p.Arg1707=)
c.5031C>A (p.Arg1677=)
c.5156C>A
n.3319C>A
c.5229C>A (p.Arg1743=)
n.4050C>A
n.2487C>A
n.2458C>A
n.2348C>A
c.4890C>A (p.Arg1630=)
c.*4402C>A (n.*4402C>A)
c.4926C>A (p.Arg1642=)
n.2958C>A
c.1417C>A
n.2350C>A
c.5289C>A (p.Arg1763=)
c.5286C>A (p.Arg1762=)
c.5178C>A (p.Arg1726=)
c.5157C>A (p.Arg1719=)
c.4503C>A (p.Arg1501=)
c.5451C>A (p.Arg1817=)
c.5199C>A (p.Arg1733=)
c.3945C>A (p.Arg1315=)
 dbSNP
16g.2088301C>GCA493043839TSC2c.*3584C>G (n.*3584C>G)
c.5082C>G (p.Arg1694=)
c.5232C>G (p.Arg1744=)
c.*5748C>G (n.*5748C>G)
c.*7984C>G (n.*7984C>G)
c.5235C>G (p.Arg1745=)
c.5166C>G (p.Arg1722=)
c.5034C>G (p.Arg1678=)
c.5067C>G (p.Arg1689=)
c.1458C>G
n.3117C>G
c.3889C>G
c.5094C>G (p.Arg1698=)
n.832C>G
c.5037C>G (p.Arg1679=)
c.5103C>G (p.Arg1701=)
c.5028C>G (p.Arg1676=)
n.2883C>G
c.5160C>G (p.Arg1720=)
c.5106C>G (p.Arg1702=)
c.5121C>G (p.Arg1707=)
c.5031C>G (p.Arg1677=)
c.5156C>G
n.3319C>G
c.5229C>G (p.Arg1743=)
n.4050C>G
n.2487C>G
n.2458C>G
n.2348C>G
c.4890C>G (p.Arg1630=)
c.*4402C>G (n.*4402C>G)
c.4926C>G (p.Arg1642=)
n.2958C>G
c.1417C>G
n.2350C>G
c.5289C>G (p.Arg1763=)
c.5286C>G (p.Arg1762=)
c.5178C>G (p.Arg1726=)
c.5157C>G (p.Arg1719=)
c.4503C>G (p.Arg1501=)
c.5451C>G (p.Arg1817=)
c.5199C>G (p.Arg1733=)
c.3945C>G (p.Arg1315=)
 dbSNP
16g.2088301C>TCA493043840TSC2c.*3584C>T (n.*3584C>T)
c.5082C>T (p.Arg1694=)
c.5232C>T (p.Arg1744=)
c.*5748C>T (n.*5748C>T)
c.*7984C>T (n.*7984C>T)
c.5235C>T (p.Arg1745=)
c.5166C>T (p.Arg1722=)
c.5034C>T (p.Arg1678=)
c.5067C>T (p.Arg1689=)
c.1458C>T
n.3117C>T
c.3889C>T
c.5094C>T (p.Arg1698=)
n.832C>T
c.5037C>T (p.Arg1679=)
c.5103C>T (p.Arg1701=)
c.5028C>T (p.Arg1676=)
n.2883C>T
c.5160C>T (p.Arg1720=)
c.5106C>T (p.Arg1702=)
c.5121C>T (p.Arg1707=)
c.5031C>T (p.Arg1677=)
c.5156C>T
n.3319C>T
c.5229C>T (p.Arg1743=)
n.4050C>T
n.2487C>T
n.2458C>T
n.2348C>T
c.4890C>T (p.Arg1630=)
c.*4402C>T (n.*4402C>T)
c.4926C>T (p.Arg1642=)
n.2958C>T
c.1417C>T
n.2350C>T
c.5289C>T (p.Arg1763=)
c.5286C>T (p.Arg1762=)
c.5178C>T (p.Arg1726=)
c.5157C>T (p.Arg1719=)
c.4503C>T (p.Arg1501=)
c.5451C>T (p.Arg1817=)
c.5199C>T (p.Arg1733=)
c.3945C>T (p.Arg1315=)
 dbSNP gnomAD v4
16g.2088302C>ACA394314599TSC2c.*3585C>A (n.*3585C>A)
c.5083C>A (p.His1695Asn)
c.5233C>A (p.His1745Asn)
c.*5749C>A (n.*5749C>A)
c.*7985C>A (n.*7985C>A)
c.5236C>A (p.His1746Asn)
c.5167C>A (p.His1723Asn)
c.5035C>A (p.His1679Asn)
c.5068C>A (p.His1690Asn)
c.1459C>A
n.3118C>A
c.3890C>A
c.5095C>A (p.His1699Asn)
n.833C>A
c.5038C>A (p.His1680Asn)
c.5104C>A (p.His1702Asn)
c.5029C>A (p.His1677Asn)
n.2884C>A
c.5161C>A (p.His1721Asn)
c.5107C>A (p.His1703Asn)
c.5122C>A (p.His1708Asn)
c.5032C>A (p.His1678Asn)
c.5157C>A
n.3320C>A
c.5230C>A (p.His1744Asn)
n.4051C>A
n.2488C>A
n.2459C>A
n.2349C>A
c.4891C>A (p.His1631Asn)
c.*4403C>A (n.*4403C>A)
c.4927C>A (p.His1643Asn)
n.2959C>A
c.1418C>A
n.2351C>A
c.5290C>A (p.His1764Asn)
c.5287C>A (p.His1763Asn)
c.5179C>A (p.His1727Asn)
c.5158C>A (p.His1720Asn)
c.4504C>A (p.His1502Asn)
c.5452C>A (p.His1818Asn)
c.5200C>A (p.His1734Asn)
c.3946C>A (p.His1316Asn)
 dbSNP gnomAD v4
16g.2088302C>GCA394314602TSC2c.*3585C>G (n.*3585C>G)
c.5083C>G (p.His1695Asp)
c.5233C>G (p.His1745Asp)
c.*5749C>G (n.*5749C>G)
c.*7985C>G (n.*7985C>G)
c.5236C>G (p.His1746Asp)
c.5167C>G (p.His1723Asp)
c.5035C>G (p.His1679Asp)
c.5068C>G (p.His1690Asp)
c.1459C>G
n.3118C>G
c.3890C>G
c.5095C>G (p.His1699Asp)
n.833C>G
c.5038C>G (p.His1680Asp)
c.5104C>G (p.His1702Asp)
c.5029C>G (p.His1677Asp)
n.2884C>G
c.5161C>G (p.His1721Asp)
c.5107C>G (p.His1703Asp)
c.5122C>G (p.His1708Asp)
c.5032C>G (p.His1678Asp)
c.5157C>G
n.3320C>G
c.5230C>G (p.His1744Asp)
n.4051C>G
n.2488C>G
n.2459C>G
n.2349C>G
c.4891C>G (p.His1631Asp)
c.*4403C>G (n.*4403C>G)
c.4927C>G (p.His1643Asp)
n.2959C>G
c.1418C>G
n.2351C>G
c.5290C>G (p.His1764Asp)
c.5287C>G (p.His1763Asp)
c.5179C>G (p.His1727Asp)
c.5158C>G (p.His1720Asp)
c.4504C>G (p.His1502Asp)
c.5452C>G (p.His1818Asp)
c.5200C>G (p.His1734Asp)
c.3946C>G (p.His1316Asp)
 dbSNP
16g.2088302C>TCA394314606TSC2c.*3585C>T (n.*3585C>T)
c.5083C>T (p.His1695Tyr)
c.5233C>T (p.His1745Tyr)
c.*5749C>T (n.*5749C>T)
c.*7985C>T (n.*7985C>T)
c.5236C>T (p.His1746Tyr)
c.5167C>T (p.His1723Tyr)
c.5035C>T (p.His1679Tyr)
c.5068C>T (p.His1690Tyr)
c.1459C>T
n.3118C>T
c.3890C>T
c.5095C>T (p.His1699Tyr)
n.833C>T
c.5038C>T (p.His1680Tyr)
c.5104C>T (p.His1702Tyr)
c.5029C>T (p.His1677Tyr)
n.2884C>T
c.5161C>T (p.His1721Tyr)
c.5107C>T (p.His1703Tyr)
c.5122C>T (p.His1708Tyr)
c.5032C>T (p.His1678Tyr)
c.5157C>T
n.3320C>T
c.5230C>T (p.His1744Tyr)
n.4051C>T
n.2488C>T
n.2459C>T
n.2349C>T
c.4891C>T (p.His1631Tyr)
c.*4403C>T (n.*4403C>T)
c.4927C>T (p.His1643Tyr)
n.2959C>T
c.1418C>T
n.2351C>T
c.5290C>T (p.His1764Tyr)
c.5287C>T (p.His1763Tyr)
c.5179C>T (p.His1727Tyr)
c.5158C>T (p.His1720Tyr)
c.4504C>T (p.His1502Tyr)
c.5452C>T (p.His1818Tyr)
c.5200C>T (p.His1734Tyr)
c.3946C>T (p.His1316Tyr)
 gnomAD v4
16g.2088303A=CA2202032591TSC2c.*3586A= (n.*3586A=)
c.5084A= (p.His1695=)
c.5234A= (p.His1745=)
c.*5750A= (n.*5750A=)
c.*7986A= (n.*7986A=)
c.5237A= (p.His1746=)
c.5168A= (p.His1723=)
c.5036A= (p.His1679=)
c.5069A= (p.His1690=)
c.1460A=
n.3119A=
c.3891A=
c.5096A= (p.His1699=)
n.834A=
c.5039A= (p.His1680=)
c.5105A= (p.His1702=)
c.5030A= (p.His1677=)
n.2885A=
c.5162A= (p.His1721=)
c.5108A= (p.His1703=)
c.5123A= (p.His1708=)
c.5033A= (p.His1678=)
c.5158A=
n.3321A=
c.5231A= (p.His1744=)
n.4052A=
n.2489A=
n.2460A=
n.2350A=
c.4892A= (p.His1631=)
c.*4404A= (n.*4404A=)
c.4928A= (p.His1643=)
n.2960A=
c.1419A=
n.2352A=
c.5291A= (p.His1764=)
c.5288A= (p.His1763=)
c.5180A= (p.His1727=)
c.5159A= (p.His1720=)
c.4505A= (p.His1502=)
c.5453A= (p.His1818=)
c.5201A= (p.His1734=)
c.3947A= (p.His1316=)
16g.2088303A>CCA394314610TSC2c.*3586A>C (n.*3586A>C)
c.5084A>C (p.His1695Pro)
c.5234A>C (p.His1745Pro)
c.*5750A>C (n.*5750A>C)
c.*7986A>C (n.*7986A>C)
c.5237A>C (p.His1746Pro)
c.5168A>C (p.His1723Pro)
c.5036A>C (p.His1679Pro)
c.5069A>C (p.His1690Pro)
c.1460A>C
n.3119A>C
c.3891A>C
c.5096A>C (p.His1699Pro)
n.834A>C
c.5039A>C (p.His1680Pro)
c.5105A>C (p.His1702Pro)
c.5030A>C (p.His1677Pro)
n.2885A>C
c.5162A>C (p.His1721Pro)
c.5108A>C (p.His1703Pro)
c.5123A>C (p.His1708Pro)
c.5033A>C (p.His1678Pro)
c.5158A>C
n.3321A>C
c.5231A>C (p.His1744Pro)
n.4052A>C
n.2489A>C
n.2460A>C
n.2350A>C
c.4892A>C (p.His1631Pro)
c.*4404A>C (n.*4404A>C)
c.4928A>C (p.His1643Pro)
n.2960A>C
c.1419A>C
n.2352A>C
c.5291A>C (p.His1764Pro)
c.5288A>C (p.His1763Pro)
c.5180A>C (p.His1727Pro)
c.5159A>C (p.His1720Pro)
c.4505A>C (p.His1502Pro)
c.5453A>C (p.His1818Pro)
c.5201A>C (p.His1734Pro)
c.3947A>C (p.His1316Pro)
 ClinVar dbSNP
16g.2088303A>GCA394314615TSC2c.*3586A>G (n.*3586A>G)
c.5084A>G (p.His1695Arg)
c.5234A>G (p.His1745Arg)
c.*5750A>G (n.*5750A>G)
c.*7986A>G (n.*7986A>G)
c.5237A>G (p.His1746Arg)
c.5168A>G (p.His1723Arg)
c.5036A>G (p.His1679Arg)
c.5069A>G (p.His1690Arg)
c.1460A>G
n.3119A>G
c.3891A>G
c.5096A>G (p.His1699Arg)
n.834A>G
c.5039A>G (p.His1680Arg)
c.5105A>G (p.His1702Arg)
c.5030A>G (p.His1677Arg)
n.2885A>G
c.5162A>G (p.His1721Arg)
c.5108A>G (p.His1703Arg)
c.5123A>G (p.His1708Arg)
c.5033A>G (p.His1678Arg)
c.5158A>G
n.3321A>G
c.5231A>G (p.His1744Arg)
n.4052A>G
n.2489A>G
n.2460A>G
n.2350A>G
c.4892A>G (p.His1631Arg)
c.*4404A>G (n.*4404A>G)
c.4928A>G (p.His1643Arg)
n.2960A>G
c.1419A>G
n.2352A>G
c.5291A>G (p.His1764Arg)
c.5288A>G (p.His1763Arg)
c.5180A>G (p.His1727Arg)
c.5159A>G (p.His1720Arg)
c.4505A>G (p.His1502Arg)
c.5453A>G (p.His1818Arg)
c.5201A>G (p.His1734Arg)
c.3947A>G (p.His1316Arg)
 ClinVar dbSNP
16g.2088303A>TCA394314612TSC2c.*3586A>T (n.*3586A>T)
c.5084A>T (p.His1695Leu)
c.5234A>T (p.His1745Leu)
c.*5750A>T (n.*5750A>T)
c.*7986A>T (n.*7986A>T)
c.5237A>T (p.His1746Leu)
c.5168A>T (p.His1723Leu)
c.5036A>T (p.His1679Leu)
c.5069A>T (p.His1690Leu)
c.1460A>T
n.3119A>T
c.3891A>T
c.5096A>T (p.His1699Leu)
n.834A>T
c.5039A>T (p.His1680Leu)
c.5105A>T (p.His1702Leu)
c.5030A>T (p.His1677Leu)
n.2885A>T
c.5162A>T (p.His1721Leu)
c.5108A>T (p.His1703Leu)
c.5123A>T (p.His1708Leu)
c.5033A>T (p.His1678Leu)
c.5158A>T
n.3321A>T
c.5231A>T (p.His1744Leu)
n.4052A>T
n.2489A>T
n.2460A>T
n.2350A>T
c.4892A>T (p.His1631Leu)
c.*4404A>T (n.*4404A>T)
c.4928A>T (p.His1643Leu)
n.2960A>T
c.1419A>T
n.2352A>T
c.5291A>T (p.His1764Leu)
c.5288A>T (p.His1763Leu)
c.5180A>T (p.His1727Leu)
c.5159A>T (p.His1720Leu)
c.4505A>T (p.His1502Leu)
c.5453A>T (p.His1818Leu)
c.5201A>T (p.His1734Leu)
c.3947A>T (p.His1316Leu)
 dbSNP
16g.2088303_2088315dupCA2631118696TSC2c.*3586_*3598dup (n.*3586_*3598dup)
c.5084_5096dup (p.Arg1700HisfsTer28)
c.5234_5246dup (p.Arg1750HisfsTer28)
c.*5750_*5762dup (n.*5750_*5762dup)
c.*7986_*7998dup (n.*7986_*7998dup)
c.5237_5249dup (p.Arg1751HisfsTer28)
c.5168_5180dup (p.Arg1728HisfsTer28)
c.5036_5048dup (p.Arg1684HisfsTer28)
c.5069_5081dup (p.Arg1695HisfsTer28)
c.1460_1472dup
n.3119_3131dup
c.3891_3903dup
c.5096_5108dup (p.Arg1704HisfsTer28)
n.834_846dup
c.5039_5051dup (p.Arg1685HisfsTer28)
c.5105_5117dup (p.Arg1707HisfsTer28)
c.5030_5042dup (p.Arg1682HisfsTer28)
n.2885_2897dup
c.5162_5174dup (p.Arg1726HisfsTer28)
c.5108_5120dup (p.Arg1708HisfsTer28)
c.5123_5135dup (p.Arg1713HisfsTer28)
c.5033_5045dup (p.Arg1683HisfsTer28)
c.5158_5170dup
n.3321_3333dup
c.5231_5243dup (p.Arg1749HisfsTer28)
n.4052_4064dup
n.2489_2501dup
n.2460_2472dup
n.2350_2362dup
c.4892_4904dup (p.Arg1636HisfsTer28)
c.*4404_*4416dup (n.*4404_*4416dup)
c.4928_4940dup (p.Arg1648HisfsTer28)
n.2960_2972dup
c.1419_1431dup
n.2352_2364dup
c.5291_5303dup (p.Arg1769HisfsTer28)
c.5288_5300dup (p.Arg1768HisfsTer28)
c.5180_5192dup (p.Arg1732HisfsTer28)
c.5159_5171dup (p.Arg1725HisfsTer28)
c.4505_4517dup (p.Arg1507HisfsTer28)
c.5453_5465dup (p.Arg1823HisfsTer28)
c.5201_5213dup (p.Arg1739HisfsTer28)
c.3947_3959dup (p.Arg1321HisfsTer28)
 gnomAD v4
16g.2088304C>ACA394314618TSC2c.*3587C>A (n.*3587C>A)
c.5085C>A (p.His1695Gln)
c.5235C>A (p.His1745Gln)
c.*5751C>A (n.*5751C>A)
c.*7987C>A (n.*7987C>A)
c.5238C>A (p.His1746Gln)
c.5169C>A (p.His1723Gln)
c.5037C>A (p.His1679Gln)
c.5070C>A (p.His1690Gln)
c.1461C>A
n.3120C>A
c.3892C>A
c.5097C>A (p.His1699Gln)
n.835C>A
c.5040C>A (p.His1680Gln)
c.5106C>A (p.His1702Gln)
c.5031C>A (p.His1677Gln)
n.2886C>A
c.5163C>A (p.His1721Gln)
c.5109C>A (p.His1703Gln)
c.5124C>A (p.His1708Gln)
c.5034C>A (p.His1678Gln)
c.5159C>A
n.3322C>A
c.5232C>A (p.His1744Gln)
n.4053C>A
n.2490C>A
n.2461C>A
n.2351C>A
c.4893C>A (p.His1631Gln)
c.*4405C>A (n.*4405C>A)
c.4929C>A (p.His1643Gln)
n.2961C>A
c.1420C>A
n.2353C>A
c.5292C>A (p.His1764Gln)
c.5289C>A (p.His1763Gln)
c.5181C>A (p.His1727Gln)
c.5160C>A (p.His1720Gln)
c.4506C>A (p.His1502Gln)
c.5454C>A (p.His1818Gln)
c.5202C>A (p.His1734Gln)
c.3948C>A (p.His1316Gln)
 ClinVar dbSNP
16g.2088304C=CA2202032599TSC2c.*3587C= (n.*3587C=)
c.5085C= (p.His1695=)
c.5235C= (p.His1745=)
c.*5751C= (n.*5751C=)
c.*7987C= (n.*7987C=)
c.5238C= (p.His1746=)
c.5169C= (p.His1723=)
c.5037C= (p.His1679=)
c.5070C= (p.His1690=)
c.1461C=
n.3120C=
c.3892C=
c.5097C= (p.His1699=)
n.835C=
c.5040C= (p.His1680=)
c.5106C= (p.His1702=)
c.5031C= (p.His1677=)
n.2886C=
c.5163C= (p.His1721=)
c.5109C= (p.His1703=)
c.5124C= (p.His1708=)
c.5034C= (p.His1678=)
c.5159C=
n.3322C=
c.5232C= (p.His1744=)
n.4053C=
n.2490C=
n.2461C=
n.2351C=
c.4893C= (p.His1631=)
c.*4405C= (n.*4405C=)
c.4929C= (p.His1643=)
n.2961C=
c.1420C=
n.2353C=
c.5292C= (p.His1764=)
c.5289C= (p.His1763=)
c.5181C= (p.His1727=)
c.5160C= (p.His1720=)
c.4506C= (p.His1502=)
c.5454C= (p.His1818=)
c.5202C= (p.His1734=)
c.3948C= (p.His1316=)
16g.2088304C>GCA394314622TSC2c.*3587C>G (n.*3587C>G)
c.5085C>G (p.His1695Gln)
c.5235C>G (p.His1745Gln)
c.*5751C>G (n.*5751C>G)
c.*7987C>G (n.*7987C>G)
c.5238C>G (p.His1746Gln)
c.5169C>G (p.His1723Gln)
c.5037C>G (p.His1679Gln)
c.5070C>G (p.His1690Gln)
c.1461C>G
n.3120C>G
c.3892C>G
c.5097C>G (p.His1699Gln)
n.835C>G
c.5040C>G (p.His1680Gln)
c.5106C>G (p.His1702Gln)
c.5031C>G (p.His1677Gln)
n.2886C>G
c.5163C>G (p.His1721Gln)
c.5109C>G (p.His1703Gln)
c.5124C>G (p.His1708Gln)
c.5034C>G (p.His1678Gln)
c.5159C>G
n.3322C>G
c.5232C>G (p.His1744Gln)
n.4053C>G
n.2490C>G
n.2461C>G
n.2351C>G
c.4893C>G (p.His1631Gln)
c.*4405C>G (n.*4405C>G)
c.4929C>G (p.His1643Gln)
n.2961C>G
c.1420C>G
n.2353C>G
c.5292C>G (p.His1764Gln)
c.5289C>G (p.His1763Gln)
c.5181C>G (p.His1727Gln)
c.5160C>G (p.His1720Gln)
c.4506C>G (p.His1502Gln)
c.5454C>G (p.His1818Gln)
c.5202C>G (p.His1734Gln)
c.3948C>G (p.His1316Gln)
16g.2088304C>TCA16615045TSC2c.*3587C>T (n.*3587C>T)
c.5085C>T (p.His1695=)
c.5235C>T (p.His1745=)
c.*5751C>T (n.*5751C>T)
c.*7987C>T (n.*7987C>T)
c.5238C>T (p.His1746=)
c.5169C>T (p.His1723=)
c.5037C>T (p.His1679=)
c.5070C>T (p.His1690=)
c.1461C>T
n.3120C>T
c.3892C>T
c.5097C>T (p.His1699=)
n.835C>T
c.5040C>T (p.His1680=)
c.5106C>T (p.His1702=)
c.5031C>T (p.His1677=)
n.2886C>T
c.5163C>T (p.His1721=)
c.5109C>T (p.His1703=)
c.5124C>T (p.His1708=)
c.5034C>T (p.His1678=)
c.5159C>T
n.3322C>T
c.5232C>T (p.His1744=)
n.4053C>T
n.2490C>T
n.2461C>T
n.2351C>T
c.4893C>T (p.His1631=)
c.*4405C>T (n.*4405C>T)
c.4929C>T (p.His1643=)
n.2961C>T
c.1420C>T
n.2353C>T
c.5292C>T (p.His1764=)
c.5289C>T (p.His1763=)
c.5181C>T (p.His1727=)
c.5160C>T (p.His1720=)
c.4506C>T (p.His1502=)
c.5454C>T (p.His1818=)
c.5202C>T (p.His1734=)
c.3948C>T (p.His1316=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2088306_2088308dupCA658656658TSC2c.*3589_*3591dup (n.*3589_*3591dup)
c.5087_5089dup (p.Ile1696_Lys1697insIle)
c.5237_5239dup (p.Ile1746_Lys1747insIle)
c.*5753_*5755dup (n.*5753_*5755dup)
c.*7989_*7991dup (n.*7989_*7991dup)
c.5240_5242dup (p.Ile1747_Lys1748insIle)
c.5171_5173dup (p.Ile1724_Lys1725insIle)
c.5039_5041dup (p.Ile1680_Lys1681insIle)
c.5072_5074dup (p.Ile1691_Lys1692insIle)
c.1463_1465dup
n.3122_3124dup
c.3894_3896dup
c.5099_5101dup (p.Ile1700_Lys1701insIle)
n.837_839dup
c.5042_5044dup (p.Ile1681_Lys1682insIle)
c.5108_5110dup (p.Ile1703_Lys1704insIle)
c.5033_5035dup (p.Ile1678_Lys1679insIle)
n.2888_2890dup
c.5165_5167dup (p.Ile1722_Lys1723insIle)
c.5111_5113dup (p.Ile1704_Lys1705insIle)
c.5126_5128dup (p.Ile1709_Lys1710insIle)
c.5036_5038dup (p.Ile1679_Lys1680insIle)
c.5161_5163dup
n.3324_3326dup
c.5234_5236dup (p.Ile1745_Lys1746insIle)
n.4055_4057dup
n.2492_2494dup
n.2463_2465dup
n.2353_2355dup
c.4895_4897dup (p.Ile1632_Lys1633insIle)
c.*4407_*4409dup (n.*4407_*4409dup)
c.4931_4933dup (p.Ile1644_Lys1645insIle)
n.2963_2965dup
c.1422_1424dup
n.2355_2357dup
c.5294_5296dup (p.Ile1765_Lys1766insIle)
c.5291_5293dup (p.Ile1764_Lys1765insIle)
c.5183_5185dup (p.Ile1728_Lys1729insIle)
c.5162_5164dup (p.Ile1721_Lys1722insIle)
c.4508_4510dup (p.Ile1503_Lys1504insIle)
c.5456_5458dup (p.Ile1819_Lys1820insIle)
c.5204_5206dup (p.Ile1735_Lys1736insIle)
c.3950_3952dup (p.Ile1317_Lys1318insIle)
 ClinVar dbSNP
16g.2088305A>CCA394314626TSC2c.*3588A>C (n.*3588A>C)
c.5086A>C (p.Ile1696Leu)
c.5236A>C (p.Ile1746Leu)
c.*5752A>C (n.*5752A>C)
c.*7988A>C (n.*7988A>C)
c.5239A>C (p.Ile1747Leu)
c.5170A>C (p.Ile1724Leu)
c.5038A>C (p.Ile1680Leu)
c.5071A>C (p.Ile1691Leu)
c.1462A>C
n.3121A>C
c.3893A>C
c.5098A>C (p.Ile1700Leu)
n.836A>C
c.5041A>C (p.Ile1681Leu)
c.5107A>C (p.Ile1703Leu)
c.5032A>C (p.Ile1678Leu)
n.2887A>C
c.5164A>C (p.Ile1722Leu)
c.5110A>C (p.Ile1704Leu)
c.5125A>C (p.Ile1709Leu)
c.5035A>C (p.Ile1679Leu)
c.5160A>C
n.3323A>C
c.5233A>C (p.Ile1745Leu)
n.4054A>C
n.2491A>C
n.2462A>C
n.2352A>C
c.4894A>C (p.Ile1632Leu)
c.*4406A>C (n.*4406A>C)
c.4930A>C (p.Ile1644Leu)
n.2962A>C
c.1421A>C
n.2354A>C
c.5293A>C (p.Ile1765Leu)
c.5290A>C (p.Ile1764Leu)
c.5182A>C (p.Ile1728Leu)
c.5161A>C (p.Ile1721Leu)
c.4507A>C (p.Ile1503Leu)
c.5455A>C (p.Ile1819Leu)
c.5203A>C (p.Ile1735Leu)
c.3949A>C (p.Ile1317Leu)
 dbSNP
16g.2088305A>GCA394314628TSC2c.*3588A>G (n.*3588A>G)
c.5086A>G (p.Ile1696Val)
c.5236A>G (p.Ile1746Val)
c.*5752A>G (n.*5752A>G)
c.*7988A>G (n.*7988A>G)
c.5239A>G (p.Ile1747Val)
c.5170A>G (p.Ile1724Val)
c.5038A>G (p.Ile1680Val)
c.5071A>G (p.Ile1691Val)
c.1462A>G
n.3121A>G
c.3893A>G
c.5098A>G (p.Ile1700Val)
n.836A>G
c.5041A>G (p.Ile1681Val)
c.5107A>G (p.Ile1703Val)
c.5032A>G (p.Ile1678Val)
n.2887A>G
c.5164A>G (p.Ile1722Val)
c.5110A>G (p.Ile1704Val)
c.5125A>G (p.Ile1709Val)
c.5035A>G (p.Ile1679Val)
c.5160A>G
n.3323A>G
c.5233A>G (p.Ile1745Val)
n.4054A>G
n.2491A>G
n.2462A>G
n.2352A>G
c.4894A>G (p.Ile1632Val)
c.*4406A>G (n.*4406A>G)
c.4930A>G (p.Ile1644Val)
n.2962A>G
c.1421A>G
n.2354A>G
c.5293A>G (p.Ile1765Val)
c.5290A>G (p.Ile1764Val)
c.5182A>G (p.Ile1728Val)
c.5161A>G (p.Ile1721Val)
c.4507A>G (p.Ile1503Val)
c.5455A>G (p.Ile1819Val)
c.5203A>G (p.Ile1735Val)
c.3949A>G (p.Ile1317Val)
 ClinVar
16g.2088305A>TCA394314631TSC2c.*3588A>T (n.*3588A>T)
c.5086A>T (p.Ile1696Phe)
c.5236A>T (p.Ile1746Phe)
c.*5752A>T (n.*5752A>T)
c.*7988A>T (n.*7988A>T)
c.5239A>T (p.Ile1747Phe)
c.5170A>T (p.Ile1724Phe)
c.5038A>T (p.Ile1680Phe)
c.5071A>T (p.Ile1691Phe)
c.1462A>T
n.3121A>T
c.3893A>T
c.5098A>T (p.Ile1700Phe)
n.836A>T
c.5041A>T (p.Ile1681Phe)
c.5107A>T (p.Ile1703Phe)
c.5032A>T (p.Ile1678Phe)
n.2887A>T
c.5164A>T (p.Ile1722Phe)
c.5110A>T (p.Ile1704Phe)
c.5125A>T (p.Ile1709Phe)
c.5035A>T (p.Ile1679Phe)
c.5160A>T
n.3323A>T
c.5233A>T (p.Ile1745Phe)
n.4054A>T
n.2491A>T
n.2462A>T
n.2352A>T
c.4894A>T (p.Ile1632Phe)
c.*4406A>T (n.*4406A>T)
c.4930A>T (p.Ile1644Phe)
n.2962A>T
c.1421A>T
n.2354A>T
c.5293A>T (p.Ile1765Phe)
c.5290A>T (p.Ile1764Phe)
c.5182A>T (p.Ile1728Phe)
c.5161A>T (p.Ile1721Phe)
c.4507A>T (p.Ile1503Phe)
c.5455A>T (p.Ile1819Phe)
c.5203A>T (p.Ile1735Phe)
c.3949A>T (p.Ile1317Phe)
 ClinVar dbSNP
16g.2088305_2088322delCA2580091166TSC2c.*3588_*3605del (n.*3588_*3605del)
c.5086_5103del (p.Ile1696_Gln1701del)
c.5236_5253del (p.Ile1746_Gln1751del)
c.*5752_*5769del (n.*5752_*5769del)
c.*7988_*8005del (n.*7988_*8005del)
c.5239_5256del (p.Ile1747_Gln1752del)
c.5170_5187del (p.Ile1724_Gln1729del)
c.5038_5055del (p.Ile1680_Gln1685del)
c.5071_5088del (p.Ile1691_Gln1696del)
c.1462_1479del
n.3121_3138del
c.3893_3910del
c.5098_5115del (p.Ile1700_Gln1705del)
n.836_853del
c.5041_5058del (p.Ile1681_Gln1686del)
c.5107_5124del (p.Ile1703_Gln1708del)
c.5032_5049del (p.Ile1678_Gln1683del)
n.2887_2904del
c.5164_5181del (p.Ile1722_Gln1727del)
c.5110_5127del (p.Ile1704_Gln1709del)
c.5125_5142del (p.Ile1709_Gln1714del)
c.5035_5052del (p.Ile1679_Gln1684del)
c.5160_5177del
n.3323_3340del
c.5233_5250del (p.Ile1745_Gln1750del)
n.4054_4071del
n.2491_2508del
n.2462_2479del
n.2352_2369del
c.4894_4911del (p.Ile1632_Gln1637del)
c.*4406_*4423del (n.*4406_*4423del)
c.4930_4947del (p.Ile1644_Gln1649del)
n.2962_2979del
c.1421_1438del
n.2354_2371del
c.5293_5310del (p.Ile1765_Gln1770del)
c.5290_5307del (p.Ile1764_Gln1769del)
c.5182_5199del (p.Ile1728_Gln1733del)
c.5161_5178del (p.Ile1721_Gln1726del)
c.4507_4524del (p.Ile1503_Gln1508del)
c.5455_5472del (p.Ile1819_Gln1824del)
c.5203_5220del (p.Ile1735_Gln1740del)
c.3949_3966del (p.Ile1317_Gln1322del)
 ClinVar dbSNP
16g.2088306T>ACA394314637TSC2c.*3589T>A (n.*3589T>A)
c.5087T>A (p.Ile1696Asn)
c.5237T>A (p.Ile1746Asn)
c.*5753T>A (n.*5753T>A)
c.*7989T>A (n.*7989T>A)
c.5240T>A (p.Ile1747Asn)
c.5171T>A (p.Ile1724Asn)
c.5039T>A (p.Ile1680Asn)
c.5072T>A (p.Ile1691Asn)
c.1463T>A
n.3122T>A
c.3894T>A
c.5099T>A (p.Ile1700Asn)
n.837T>A
c.5042T>A (p.Ile1681Asn)
c.5108T>A (p.Ile1703Asn)
c.5033T>A (p.Ile1678Asn)
n.2888T>A
c.5165T>A (p.Ile1722Asn)
c.5111T>A (p.Ile1704Asn)
c.5126T>A (p.Ile1709Asn)
c.5036T>A (p.Ile1679Asn)
c.5161T>A
n.3324T>A
c.5234T>A (p.Ile1745Asn)
n.4055T>A
n.2492T>A
n.2463T>A
n.2353T>A
c.4895T>A (p.Ile1632Asn)
c.*4407T>A (n.*4407T>A)
c.4931T>A (p.Ile1644Asn)
n.2963T>A
c.1422T>A
n.2355T>A
c.5294T>A (p.Ile1765Asn)
c.5291T>A (p.Ile1764Asn)
c.5183T>A (p.Ile1728Asn)
c.5162T>A (p.Ile1721Asn)
c.4508T>A (p.Ile1503Asn)
c.5456T>A (p.Ile1819Asn)
c.5204T>A (p.Ile1735Asn)
c.3950T>A (p.Ile1317Asn)
 dbSNP
16g.2088306T>CCA394314640TSC2c.*3589T>C (n.*3589T>C)
c.5087T>C (p.Ile1696Thr)
c.5237T>C (p.Ile1746Thr)
c.*5753T>C (n.*5753T>C)
c.*7989T>C (n.*7989T>C)
c.5240T>C (p.Ile1747Thr)
c.5171T>C (p.Ile1724Thr)
c.5039T>C (p.Ile1680Thr)
c.5072T>C (p.Ile1691Thr)
c.1463T>C
n.3122T>C
c.3894T>C
c.5099T>C (p.Ile1700Thr)
n.837T>C
c.5042T>C (p.Ile1681Thr)
c.5108T>C (p.Ile1703Thr)
c.5033T>C (p.Ile1678Thr)
n.2888T>C
c.5165T>C (p.Ile1722Thr)
c.5111T>C (p.Ile1704Thr)
c.5126T>C (p.Ile1709Thr)
c.5036T>C (p.Ile1679Thr)
c.5161T>C
n.3324T>C
c.5234T>C (p.Ile1745Thr)
n.4055T>C
n.2492T>C
n.2463T>C
n.2353T>C
c.4895T>C (p.Ile1632Thr)
c.*4407T>C (n.*4407T>C)
c.4931T>C (p.Ile1644Thr)
n.2963T>C
c.1422T>C
n.2355T>C
c.5294T>C (p.Ile1765Thr)
c.5291T>C (p.Ile1764Thr)
c.5183T>C (p.Ile1728Thr)
c.5162T>C (p.Ile1721Thr)
c.4508T>C (p.Ile1503Thr)
c.5456T>C (p.Ile1819Thr)
c.5204T>C (p.Ile1735Thr)
c.3950T>C (p.Ile1317Thr)
 dbSNP
16g.2088306T>GCA394314643TSC2c.*3589T>G (n.*3589T>G)
c.5087T>G (p.Ile1696Ser)
c.5237T>G (p.Ile1746Ser)
c.*5753T>G (n.*5753T>G)
c.*7989T>G (n.*7989T>G)
c.5240T>G (p.Ile1747Ser)
c.5171T>G (p.Ile1724Ser)
c.5039T>G (p.Ile1680Ser)
c.5072T>G (p.Ile1691Ser)
c.1463T>G
n.3122T>G
c.3894T>G
c.5099T>G (p.Ile1700Ser)
n.837T>G
c.5042T>G (p.Ile1681Ser)
c.5108T>G (p.Ile1703Ser)
c.5033T>G (p.Ile1678Ser)
n.2888T>G
c.5165T>G (p.Ile1722Ser)
c.5111T>G (p.Ile1704Ser)
c.5126T>G (p.Ile1709Ser)
c.5036T>G (p.Ile1679Ser)
c.5161T>G
n.3324T>G
c.5234T>G (p.Ile1745Ser)
n.4055T>G
n.2492T>G
n.2463T>G
n.2353T>G
c.4895T>G (p.Ile1632Ser)
c.*4407T>G (n.*4407T>G)
c.4931T>G (p.Ile1644Ser)
n.2963T>G
c.1422T>G
n.2355T>G
c.5294T>G (p.Ile1765Ser)
c.5291T>G (p.Ile1764Ser)
c.5183T>G (p.Ile1728Ser)
c.5162T>G (p.Ile1721Ser)
c.4508T>G (p.Ile1503Ser)
c.5456T>G (p.Ile1819Ser)
c.5204T>G (p.Ile1735Ser)
c.3950T>G (p.Ile1317Ser)
16g.2088306_2088317delCA2580091167TSC2c.*3589_*3600del (n.*3589_*3600del)
c.5087_5098del (p.Ile1696_Arg1700delinsSer)
c.5237_5248del (p.Ile1746_Arg1750delinsSer)
c.*5753_*5764del (n.*5753_*5764del)
c.*7989_*8000del (n.*7989_*8000del)
c.5240_5251del (p.Ile1747_Arg1751delinsSer)
c.5171_5182del (p.Ile1724_Arg1728delinsSer)
c.5039_5050del (p.Ile1680_Arg1684delinsSer)
c.5072_5083del (p.Ile1691_Arg1695delinsSer)
c.1463_1474del
n.3122_3133del
c.3894_3905del
c.5099_5110del (p.Ile1700_Arg1704delinsSer)
n.837_848del
c.5042_5053del (p.Ile1681_Arg1685delinsSer)
c.5108_5119del (p.Ile1703_Arg1707delinsSer)
c.5033_5044del (p.Ile1678_Arg1682delinsSer)
n.2888_2899del
c.5165_5176del (p.Ile1722_Arg1726delinsSer)
c.5111_5122del (p.Ile1704_Arg1708delinsSer)
c.5126_5137del (p.Ile1709_Arg1713delinsSer)
c.5036_5047del (p.Ile1679_Arg1683delinsSer)
c.5161_5172del
n.3324_3335del
c.5234_5245del (p.Ile1745_Arg1749delinsSer)
n.4055_4066del
n.2492_2503del
n.2463_2474del
n.2353_2364del
c.4895_4906del (p.Ile1632_Arg1636delinsSer)
c.*4407_*4418del (n.*4407_*4418del)
c.4931_4942del (p.Ile1644_Arg1648delinsSer)
n.2963_2974del
c.1422_1433del
n.2355_2366del
c.5294_5305del (p.Ile1765_Arg1769delinsSer)
c.5291_5302del (p.Ile1764_Arg1768delinsSer)
c.5183_5194del (p.Ile1728_Arg1732delinsSer)
c.5162_5173del (p.Ile1721_Arg1725delinsSer)
c.4508_4519del (p.Ile1503_Arg1507delinsSer)
c.5456_5467del (p.Ile1819_Arg1823delinsSer)
c.5204_5215del (p.Ile1735_Arg1739delinsSer)
c.3950_3961del (p.Ile1317_Arg1321delinsSer)
 ClinVar
16g.2088308_2088468delCA2697549443TSC2c.*3591_*3631del
c.5089_5129del
c.5239_5279del
c.*5755_*5795del
c.*7991_*8031del
c.5242_5282del
c.5173_5213del
c.5041_5081del
c.5074_5114del
c.1465_1505del
n.3124_3164del
c.3896_3936del
c.5101_5141del
n.839_879del
c.5044_5084del
c.5110_5150del
c.5035_5075del
n.2890_2930del
c.5167_5207del
c.5113_5153del
c.5128_5168del
c.5038_5078del
c.5163_5203del
n.3326_3366del
c.5236_5276del
n.4057_4097del
n.2494_2534del
n.2465_2505del
n.2355_2395del
c.4897_4937del
c.*4409_*4449del
c.4933_4973del
n.2965_3005del
c.1424_1464del
n.2357_2397del
c.5296_5336del
c.5293_5333del
c.5185_5225del
c.5164_5204del
c.4510_4550del
c.5458_5498del
c.5206_5246del
c.3952_3992del
 ClinVar
16g.2088307C>ACA493043846TSC2c.*3590C>A (n.*3590C>A)
c.5088C>A (p.Ile1696=)
c.5238C>A (p.Ile1746=)
c.*5754C>A (n.*5754C>A)
c.*7990C>A (n.*7990C>A)
c.5241C>A (p.Ile1747=)
c.5172C>A (p.Ile1724=)
c.5040C>A (p.Ile1680=)
c.5073C>A (p.Ile1691=)
c.1464C>A
n.3123C>A
c.3895C>A
c.5100C>A (p.Ile1700=)
n.838C>A
c.5043C>A (p.Ile1681=)
c.5109C>A (p.Ile1703=)
c.5034C>A (p.Ile1678=)
n.2889C>A
c.5166C>A (p.Ile1722=)
c.5112C>A (p.Ile1704=)
c.5127C>A (p.Ile1709=)
c.5037C>A (p.Ile1679=)
c.5162C>A
n.3325C>A
c.5235C>A (p.Ile1745=)
n.4056C>A
n.2493C>A
n.2464C>A
n.2354C>A
c.4896C>A (p.Ile1632=)
c.*4408C>A (n.*4408C>A)
c.4932C>A (p.Ile1644=)
n.2964C>A
c.1423C>A
n.2356C>A
c.5295C>A (p.Ile1765=)
c.5292C>A (p.Ile1764=)
c.5184C>A (p.Ile1728=)
c.5163C>A (p.Ile1721=)
c.4509C>A (p.Ile1503=)
c.5457C>A (p.Ile1819=)
c.5205C>A (p.Ile1735=)
c.3951C>A (p.Ile1317=)
 ClinVar
16g.2088307C>GCA394314649TSC2c.*3590C>G (n.*3590C>G)
c.5088C>G (p.Ile1696Met)
c.5238C>G (p.Ile1746Met)
c.*5754C>G (n.*5754C>G)
c.*7990C>G (n.*7990C>G)
c.5241C>G (p.Ile1747Met)
c.5172C>G (p.Ile1724Met)
c.5040C>G (p.Ile1680Met)
c.5073C>G (p.Ile1691Met)
c.1464C>G
n.3123C>G
c.3895C>G
c.5100C>G (p.Ile1700Met)
n.838C>G
c.5043C>G (p.Ile1681Met)
c.5109C>G (p.Ile1703Met)
c.5034C>G (p.Ile1678Met)
n.2889C>G
c.5166C>G (p.Ile1722Met)
c.5112C>G (p.Ile1704Met)
c.5127C>G (p.Ile1709Met)
c.5037C>G (p.Ile1679Met)
c.5162C>G
n.3325C>G
c.5235C>G (p.Ile1745Met)
n.4056C>G
n.2493C>G
n.2464C>G
n.2354C>G
c.4896C>G (p.Ile1632Met)
c.*4408C>G (n.*4408C>G)
c.4932C>G (p.Ile1644Met)
n.2964C>G
c.1423C>G
n.2356C>G
c.5295C>G (p.Ile1765Met)
c.5292C>G (p.Ile1764Met)
c.5184C>G (p.Ile1728Met)
c.5163C>G (p.Ile1721Met)
c.4509C>G (p.Ile1503Met)
c.5457C>G (p.Ile1819Met)
c.5205C>G (p.Ile1735Met)
c.3951C>G (p.Ile1317Met)
 ClinVar
16g.2088307C>TCA493043848TSC2c.*3590C>T (n.*3590C>T)
c.5088C>T (p.Ile1696=)
c.5238C>T (p.Ile1746=)
c.*5754C>T (n.*5754C>T)
c.*7990C>T (n.*7990C>T)
c.5241C>T (p.Ile1747=)
c.5172C>T (p.Ile1724=)
c.5040C>T (p.Ile1680=)
c.5073C>T (p.Ile1691=)
c.1464C>T
n.3123C>T
c.3895C>T
c.5100C>T (p.Ile1700=)
n.838C>T
c.5043C>T (p.Ile1681=)
c.5109C>T (p.Ile1703=)
c.5034C>T (p.Ile1678=)
n.2889C>T
c.5166C>T (p.Ile1722=)
c.5112C>T (p.Ile1704=)
c.5127C>T (p.Ile1709=)
c.5037C>T (p.Ile1679=)
c.5162C>T
n.3325C>T
c.5235C>T (p.Ile1745=)
n.4056C>T
n.2493C>T
n.2464C>T
n.2354C>T
c.4896C>T (p.Ile1632=)
c.*4408C>T (n.*4408C>T)
c.4932C>T (p.Ile1644=)
n.2964C>T
c.1423C>T
n.2356C>T
c.5295C>T (p.Ile1765=)
c.5292C>T (p.Ile1764=)
c.5184C>T (p.Ile1728=)
c.5163C>T (p.Ile1721=)
c.4509C>T (p.Ile1503=)
c.5457C>T (p.Ile1819=)
c.5205C>T (p.Ile1735=)
c.3951C>T (p.Ile1317=)
 dbSNP
16g.2088308A>CCA394314654TSC2c.*3591A>C (n.*3591A>C)
c.5089A>C (p.Lys1697Gln)
c.5239A>C (p.Lys1747Gln)
c.*5755A>C (n.*5755A>C)
c.*7991A>C (n.*7991A>C)
c.5242A>C (p.Lys1748Gln)
c.5173A>C (p.Lys1725Gln)
c.5041A>C (p.Lys1681Gln)
c.5074A>C (p.Lys1692Gln)
c.1465A>C
n.3124A>C
c.3896A>C
c.5101A>C (p.Lys1701Gln)
n.839A>C
c.5044A>C (p.Lys1682Gln)
c.5110A>C (p.Lys1704Gln)
c.5035A>C (p.Lys1679Gln)
n.2890A>C
c.5167A>C (p.Lys1723Gln)
c.5113A>C (p.Lys1705Gln)
c.5128A>C (p.Lys1710Gln)
c.5038A>C (p.Lys1680Gln)
c.5163A>C
n.3326A>C
c.5236A>C (p.Lys1746Gln)
n.4057A>C
n.2494A>C
n.2465A>C
n.2355A>C
c.4897A>C (p.Lys1633Gln)
c.*4409A>C (n.*4409A>C)
c.4933A>C (p.Lys1645Gln)
n.2965A>C
c.1424A>C
n.2357A>C
c.5296A>C (p.Lys1766Gln)
c.5293A>C (p.Lys1765Gln)
c.5185A>C (p.Lys1729Gln)
c.5164A>C (p.Lys1722Gln)
c.4510A>C (p.Lys1504Gln)
c.5458A>C (p.Lys1820Gln)
c.5206A>C (p.Lys1736Gln)
c.3952A>C (p.Lys1318Gln)
16g.2088308A>GCA394314657TSC2c.*3591A>G (n.*3591A>G)
c.5089A>G (p.Lys1697Glu)
c.5239A>G (p.Lys1747Glu)
c.*5755A>G (n.*5755A>G)
c.*7991A>G (n.*7991A>G)
c.5242A>G (p.Lys1748Glu)
c.5173A>G (p.Lys1725Glu)
c.5041A>G (p.Lys1681Glu)
c.5074A>G (p.Lys1692Glu)
c.1465A>G
n.3124A>G
c.3896A>G
c.5101A>G (p.Lys1701Glu)
n.839A>G
c.5044A>G (p.Lys1682Glu)
c.5110A>G (p.Lys1704Glu)
c.5035A>G (p.Lys1679Glu)
n.2890A>G
c.5167A>G (p.Lys1723Glu)
c.5113A>G (p.Lys1705Glu)
c.5128A>G (p.Lys1710Glu)
c.5038A>G (p.Lys1680Glu)
c.5163A>G
n.3326A>G
c.5236A>G (p.Lys1746Glu)
n.4057A>G
n.2494A>G
n.2465A>G
n.2355A>G
c.4897A>G (p.Lys1633Glu)
c.*4409A>G (n.*4409A>G)
c.4933A>G (p.Lys1645Glu)
n.2965A>G
c.1424A>G
n.2357A>G
c.5296A>G (p.Lys1766Glu)
c.5293A>G (p.Lys1765Glu)
c.5185A>G (p.Lys1729Glu)
c.5164A>G (p.Lys1722Glu)
c.4510A>G (p.Lys1504Glu)
c.5458A>G (p.Lys1820Glu)
c.5206A>G (p.Lys1736Glu)
c.3952A>G (p.Lys1318Glu)
 dbSNP
16g.2088308A>TCA394314659TSC2c.*3591A>T (n.*3591A>T)
c.5089A>T (p.Lys1697Ter)
c.5239A>T (p.Lys1747Ter)
c.*5755A>T (n.*5755A>T)
c.*7991A>T (n.*7991A>T)
c.5242A>T (p.Lys1748Ter)
c.5173A>T (p.Lys1725Ter)
c.5041A>T (p.Lys1681Ter)
c.5074A>T (p.Lys1692Ter)
c.1465A>T
n.3124A>T
c.3896A>T
c.5101A>T (p.Lys1701Ter)
n.839A>T
c.5044A>T (p.Lys1682Ter)
c.5110A>T (p.Lys1704Ter)
c.5035A>T (p.Lys1679Ter)
n.2890A>T
c.5167A>T (p.Lys1723Ter)
c.5113A>T (p.Lys1705Ter)
c.5128A>T (p.Lys1710Ter)
c.5038A>T (p.Lys1680Ter)
c.5163A>T
n.3326A>T
c.5236A>T (p.Lys1746Ter)
n.4057A>T
n.2494A>T
n.2465A>T
n.2355A>T
c.4897A>T (p.Lys1633Ter)
c.*4409A>T (n.*4409A>T)
c.4933A>T (p.Lys1645Ter)
n.2965A>T
c.1424A>T
n.2357A>T
c.5296A>T (p.Lys1766Ter)
c.5293A>T (p.Lys1765Ter)
c.5185A>T (p.Lys1729Ter)
c.5164A>T (p.Lys1722Ter)
c.4510A>T (p.Lys1504Ter)
c.5458A>T (p.Lys1820Ter)
c.5206A>T (p.Lys1736Ter)
c.3952A>T (p.Lys1318Ter)
 dbSNP
16g.2088309A=CA2202032603TSC2c.*3592A= (n.*3592A=)
c.5090A= (p.Lys1697=)
c.5240A= (p.Lys1747=)
c.*5756A= (n.*5756A=)
c.*7992A= (n.*7992A=)
c.5243A= (p.Lys1748=)
c.5174A= (p.Lys1725=)
c.5042A= (p.Lys1681=)
c.5075A= (p.Lys1692=)
c.1466A=
n.3125A=
c.3897A=
c.5102A= (p.Lys1701=)
n.840A=
c.5045A= (p.Lys1682=)
c.5111A= (p.Lys1704=)
c.5036A= (p.Lys1679=)
n.2891A=
c.5168A= (p.Lys1723=)
c.5114A= (p.Lys1705=)
c.5129A= (p.Lys1710=)
c.5039A= (p.Lys1680=)
c.5164A=
n.3327A=
c.5237A= (p.Lys1746=)
n.4058A=
n.2495A=
n.2466A=
n.2356A=
c.4898A= (p.Lys1633=)
c.*4410A= (n.*4410A=)
c.4934A= (p.Lys1645=)
n.2966A=
c.1425A=
n.2358A=
c.5297A= (p.Lys1766=)
c.5294A= (p.Lys1765=)
c.5186A= (p.Lys1729=)
c.5165A= (p.Lys1722=)
c.4511A= (p.Lys1504=)
c.5459A= (p.Lys1820=)
c.5207A= (p.Lys1736=)
c.3953A= (p.Lys1318=)
16g.2088309A>CCA394314672TSC2c.*3592A>C (n.*3592A>C)
c.5090A>C (p.Lys1697Thr)
c.5240A>C (p.Lys1747Thr)
c.*5756A>C (n.*5756A>C)
c.*7992A>C (n.*7992A>C)
c.5243A>C (p.Lys1748Thr)
c.5174A>C (p.Lys1725Thr)
c.5042A>C (p.Lys1681Thr)
c.5075A>C (p.Lys1692Thr)
c.1466A>C
n.3125A>C
c.3897A>C
c.5102A>C (p.Lys1701Thr)
n.840A>C
c.5045A>C (p.Lys1682Thr)
c.5111A>C (p.Lys1704Thr)
c.5036A>C (p.Lys1679Thr)
n.2891A>C
c.5168A>C (p.Lys1723Thr)
c.5114A>C (p.Lys1705Thr)
c.5129A>C (p.Lys1710Thr)
c.5039A>C (p.Lys1680Thr)
c.5164A>C
n.3327A>C
c.5237A>C (p.Lys1746Thr)
n.4058A>C
n.2495A>C
n.2466A>C
n.2356A>C
c.4898A>C (p.Lys1633Thr)
c.*4410A>C (n.*4410A>C)
c.4934A>C (p.Lys1645Thr)
n.2966A>C
c.1425A>C
n.2358A>C
c.5297A>C (p.Lys1766Thr)
c.5294A>C (p.Lys1765Thr)
c.5186A>C (p.Lys1729Thr)
c.5165A>C (p.Lys1722Thr)
c.4511A>C (p.Lys1504Thr)
c.5459A>C (p.Lys1820Thr)
c.5207A>C (p.Lys1736Thr)
c.3953A>C (p.Lys1318Thr)
 ClinVar dbSNP
16g.2088309A>GCA054538TSC2c.*3592A>G (n.*3592A>G)
c.5090A>G (p.Lys1697Arg)
c.5240A>G (p.Lys1747Arg)
c.*5756A>G (n.*5756A>G)
c.*7992A>G (n.*7992A>G)
c.5243A>G (p.Lys1748Arg)
c.5174A>G (p.Lys1725Arg)
c.5042A>G (p.Lys1681Arg)
c.5075A>G (p.Lys1692Arg)
c.1466A>G
n.3125A>G
c.3897A>G
c.5102A>G (p.Lys1701Arg)
n.840A>G
c.5045A>G (p.Lys1682Arg)
c.5111A>G (p.Lys1704Arg)
c.5036A>G (p.Lys1679Arg)
n.2891A>G
c.5168A>G (p.Lys1723Arg)
c.5114A>G (p.Lys1705Arg)
c.5129A>G (p.Lys1710Arg)
c.5039A>G (p.Lys1680Arg)
c.5164A>G
n.3327A>G
c.5237A>G (p.Lys1746Arg)
n.4058A>G
n.2495A>G
n.2466A>G
n.2356A>G
c.4898A>G (p.Lys1633Arg)
c.*4410A>G (n.*4410A>G)
c.4934A>G (p.Lys1645Arg)
n.2966A>G
c.1425A>G
n.2358A>G
c.5297A>G (p.Lys1766Arg)
c.5294A>G (p.Lys1765Arg)
c.5186A>G (p.Lys1729Arg)
c.5165A>G (p.Lys1722Arg)
c.4511A>G (p.Lys1504Arg)
c.5459A>G (p.Lys1820Arg)
c.5207A>G (p.Lys1736Arg)
c.3953A>G (p.Lys1318Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2088309A>TCA394314669TSC2c.*3592A>T (n.*3592A>T)
c.5090A>T (p.Lys1697Met)
c.5240A>T (p.Lys1747Met)
c.*5756A>T (n.*5756A>T)
c.*7992A>T (n.*7992A>T)
c.5243A>T (p.Lys1748Met)
c.5174A>T (p.Lys1725Met)
c.5042A>T (p.Lys1681Met)
c.5075A>T (p.Lys1692Met)
c.1466A>T
n.3125A>T
c.3897A>T
c.5102A>T (p.Lys1701Met)
n.840A>T
c.5045A>T (p.Lys1682Met)
c.5111A>T (p.Lys1704Met)
c.5036A>T (p.Lys1679Met)
n.2891A>T
c.5168A>T (p.Lys1723Met)
c.5114A>T (p.Lys1705Met)
c.5129A>T (p.Lys1710Met)
c.5039A>T (p.Lys1680Met)
c.5164A>T
n.3327A>T
c.5237A>T (p.Lys1746Met)
n.4058A>T
n.2495A>T
n.2466A>T
n.2356A>T
c.4898A>T (p.Lys1633Met)
c.*4410A>T (n.*4410A>T)
c.4934A>T (p.Lys1645Met)
n.2966A>T
c.1425A>T
n.2358A>T
c.5297A>T (p.Lys1766Met)
c.5294A>T (p.Lys1765Met)
c.5186A>T (p.Lys1729Met)
c.5165A>T (p.Lys1722Met)
c.4511A>T (p.Lys1504Met)
c.5459A>T (p.Lys1820Met)
c.5207A>T (p.Lys1736Met)
c.3953A>T (p.Lys1318Met)
 dbSNP
16g.2088310G>ACA054548TSC2c.*3593G>A (n.*3593G>A)
c.5091G>A (p.Lys1697=)
c.5241G>A (p.Lys1747=)
c.*5757G>A (n.*5757G>A)
c.*7993G>A (n.*7993G>A)
c.5244G>A (p.Lys1748=)
c.5175G>A (p.Lys1725=)
c.5043G>A (p.Lys1681=)
c.5076G>A (p.Lys1692=)
c.1467G>A
n.3126G>A
c.3898G>A
c.5103G>A (p.Lys1701=)
n.841G>A
c.5046G>A (p.Lys1682=)
c.5112G>A (p.Lys1704=)
c.5037G>A (p.Lys1679=)
n.2892G>A
c.5169G>A (p.Lys1723=)
c.5115G>A (p.Lys1705=)
c.5130G>A (p.Lys1710=)
c.5040G>A (p.Lys1680=)
c.5165G>A
n.3328G>A
c.5238G>A (p.Lys1746=)
n.4059G>A
n.2496G>A
n.2467G>A
n.2357G>A
c.4899G>A (p.Lys1633=)
c.*4411G>A (n.*4411G>A)
c.4935G>A (p.Lys1645=)
n.2967G>A
c.1426G>A
n.2359G>A
c.5298G>A (p.Lys1766=)
c.5295G>A (p.Lys1765=)
c.5187G>A (p.Lys1729=)
c.5166G>A (p.Lys1722=)
c.4512G>A (p.Lys1504=)
c.5460G>A (p.Lys1820=)
c.5208G>A (p.Lys1736=)
c.3954G>A (p.Lys1318=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2088310G>CCA394314681TSC2c.*3593G>C (n.*3593G>C)
c.5091G>C (p.Lys1697Asn)
c.5241G>C (p.Lys1747Asn)
c.*5757G>C (n.*5757G>C)
c.*7993G>C (n.*7993G>C)
c.5244G>C (p.Lys1748Asn)
c.5175G>C (p.Lys1725Asn)
c.5043G>C (p.Lys1681Asn)
c.5076G>C (p.Lys1692Asn)
c.1467G>C
n.3126G>C
c.3898G>C
c.5103G>C (p.Lys1701Asn)
n.841G>C
c.5046G>C (p.Lys1682Asn)
c.5112G>C (p.Lys1704Asn)
c.5037G>C (p.Lys1679Asn)
n.2892G>C
c.5169G>C (p.Lys1723Asn)
c.5115G>C (p.Lys1705Asn)
c.5130G>C (p.Lys1710Asn)
c.5040G>C (p.Lys1680Asn)
c.5165G>C
n.3328G>C
c.5238G>C (p.Lys1746Asn)
n.4059G>C
n.2496G>C
n.2467G>C
n.2357G>C
c.4899G>C (p.Lys1633Asn)
c.*4411G>C (n.*4411G>C)
c.4935G>C (p.Lys1645Asn)
n.2967G>C
c.1426G>C
n.2359G>C
c.5298G>C (p.Lys1766Asn)
c.5295G>C (p.Lys1765Asn)
c.5187G>C (p.Lys1729Asn)
c.5166G>C (p.Lys1722Asn)
c.4512G>C (p.Lys1504Asn)
c.5460G>C (p.Lys1820Asn)
c.5208G>C (p.Lys1736Asn)
c.3954G>C (p.Lys1318Asn)
 dbSNP
16g.2088310G=CA2202032619TSC2c.*3593G= (n.*3593G=)
c.5091G= (p.Lys1697=)
c.5241G= (p.Lys1747=)
c.*5757G= (n.*5757G=)
c.*7993G= (n.*7993G=)
c.5244G= (p.Lys1748=)
c.5175G= (p.Lys1725=)
c.5043G= (p.Lys1681=)
c.5076G= (p.Lys1692=)
c.1467G=
n.3126G=
c.3898G=
c.5103G= (p.Lys1701=)
n.841G=
c.5046G= (p.Lys1682=)
c.5112G= (p.Lys1704=)
c.5037G= (p.Lys1679=)
n.2892G=
c.5169G= (p.Lys1723=)
c.5115G= (p.Lys1705=)
c.5130G= (p.Lys1710=)
c.5040G= (p.Lys1680=)
c.5165G=
n.3328G=
c.5238G= (p.Lys1746=)
n.4059G=
n.2496G=
n.2467G=
n.2357G=
c.4899G= (p.Lys1633=)
c.*4411G= (n.*4411G=)
c.4935G= (p.Lys1645=)
n.2967G=
c.1426G=
n.2359G=
c.5298G= (p.Lys1766=)
c.5295G= (p.Lys1765=)
c.5187G= (p.Lys1729=)
c.5166G= (p.Lys1722=)
c.4512G= (p.Lys1504=)
c.5460G= (p.Lys1820=)
c.5208G= (p.Lys1736=)
c.3954G= (p.Lys1318=)
16g.2088310G>TCA394314691TSC2c.*3593G>T (n.*3593G>T)
c.5091G>T (p.Lys1697Asn)
c.5241G>T (p.Lys1747Asn)
c.*5757G>T (n.*5757G>T)
c.*7993G>T (n.*7993G>T)
c.5244G>T (p.Lys1748Asn)
c.5175G>T (p.Lys1725Asn)
c.5043G>T (p.Lys1681Asn)
c.5076G>T (p.Lys1692Asn)
c.1467G>T
n.3126G>T
c.3898G>T
c.5103G>T (p.Lys1701Asn)
n.841G>T
c.5046G>T (p.Lys1682Asn)
c.5112G>T (p.Lys1704Asn)
c.5037G>T (p.Lys1679Asn)
n.2892G>T
c.5169G>T (p.Lys1723Asn)
c.5115G>T (p.Lys1705Asn)
c.5130G>T (p.Lys1710Asn)
c.5040G>T (p.Lys1680Asn)
c.5165G>T
n.3328G>T
c.5238G>T (p.Lys1746Asn)
n.4059G>T
n.2496G>T
n.2467G>T
n.2357G>T
c.4899G>T (p.Lys1633Asn)
c.*4411G>T (n.*4411G>T)
c.4935G>T (p.Lys1645Asn)
n.2967G>T
c.1426G>T
n.2359G>T
c.5298G>T (p.Lys1766Asn)
c.5295G>T (p.Lys1765Asn)
c.5187G>T (p.Lys1729Asn)
c.5166G>T (p.Lys1722Asn)
c.4512G>T (p.Lys1504Asn)
c.5460G>T (p.Lys1820Asn)
c.5208G>T (p.Lys1736Asn)
c.3954G>T (p.Lys1318Asn)
16g.2088312_2088319dupCA913184877TSC2c.*3595_*3602dup (n.*3595_*3602dup)
c.5093_5100dup (p.Gln1701GlyfsTer?)
c.5243_5250dup (p.Gln1751GlyfsTer?)
c.*5759_*5766dup (n.*5759_*5766dup)
c.*7995_*8002dup (n.*7995_*8002dup)
c.5246_5253dup (p.Gln1752GlyfsTer?)
c.5177_5184dup (p.Gln1729GlyfsTer?)
c.5045_5052dup (p.Gln1685GlyfsTer?)
c.5078_5085dup (p.Gln1696GlyfsTer?)
c.1469_1476dup
n.3128_3135dup
c.3900_3907dup
c.5105_5112dup (p.Gln1705GlyfsTer?)
n.843_850dup
c.5048_5055dup (p.Gln1686GlyfsTer?)
c.5114_5121dup (p.Gln1708GlyfsTer?)
c.5039_5046dup (p.Gln1683GlyfsTer?)
n.2894_2901dup
c.5171_5178dup (p.Gln1727GlyfsTer?)
c.5117_5124dup (p.Gln1709GlyfsTer?)
c.5132_5139dup (p.Gln1714GlyfsTer?)
c.5042_5049dup (p.Gln1684GlyfsTer?)
c.5167_5174dup
n.3330_3337dup
c.5240_5247dup (p.Gln1750GlyfsTer?)
n.4061_4068dup
n.2498_2505dup
n.2469_2476dup
n.2359_2366dup
c.4901_4908dup (p.Gln1637GlyfsTer?)
c.*4413_*4420dup (n.*4413_*4420dup)
c.4937_4944dup (p.Gln1649GlyfsTer?)
n.2969_2976dup
c.1428_1435dup
n.2361_2368dup
c.5300_5307dup (p.Gln1770GlyfsTer?)
c.5297_5304dup (p.Gln1769GlyfsTer?)
c.5189_5196dup (p.Gln1733GlyfsTer?)
c.5168_5175dup (p.Gln1726GlyfsTer?)
c.4514_4521dup (p.Gln1508GlyfsTer?)
c.5462_5469dup (p.Gln1824GlyfsTer?)
c.5210_5217dup (p.Gln1740GlyfsTer?)
c.3956_3963dup (p.Gln1322GlyfsTer?)
16g.2088311C>ACA493043851TSC2c.*3594C>A (n.*3594C>A)
c.5092C>A (p.Arg1698=)
c.5242C>A (p.Arg1748=)
c.*5758C>A (n.*5758C>A)
c.*7994C>A (n.*7994C>A)
c.5245C>A (p.Arg1749=)
c.5176C>A (p.Arg1726=)
c.5044C>A (p.Arg1682=)
c.5077C>A (p.Arg1693=)
c.1468C>A
n.3127C>A
c.3899C>A
c.5104C>A (p.Arg1702=)
n.842C>A
c.5047C>A (p.Arg1683=)
c.5113C>A (p.Arg1705=)
c.5038C>A (p.Arg1680=)
n.2893C>A
c.5170C>A (p.Arg1724=)
c.5116C>A (p.Arg1706=)
c.5131C>A (p.Arg1711=)
c.5041C>A (p.Arg1681=)
c.5166C>A
n.3329C>A
c.5239C>A (p.Arg1747=)
n.4060C>A
n.2497C>A
n.2468C>A
n.2358C>A
c.4900C>A (p.Arg1634=)
c.*4412C>A (n.*4412C>A)
c.4936C>A (p.Arg1646=)
n.2968C>A
c.1427C>A
n.2360C>A
c.5299C>A (p.Arg1767=)
c.5296C>A (p.Arg1766=)
c.5188C>A (p.Arg1730=)
c.5167C>A (p.Arg1723=)
c.4513C>A (p.Arg1505=)
c.5461C>A (p.Arg1821=)
c.5209C>A (p.Arg1737=)
c.3955C>A (p.Arg1319=)
 dbSNP
16g.2088311C=CA2202032633TSC2c.*3594C= (n.*3594C=)
c.5092C= (p.Arg1698=)
c.5242C= (p.Arg1748=)
c.*5758C= (n.*5758C=)
c.*7994C= (n.*7994C=)
c.5245C= (p.Arg1749=)
c.5176C= (p.Arg1726=)
c.5044C= (p.Arg1682=)
c.5077C= (p.Arg1693=)
c.1468C=
n.3127C=
c.3899C=
c.5104C= (p.Arg1702=)
n.842C=
c.5047C= (p.Arg1683=)
c.5113C= (p.Arg1705=)
c.5038C= (p.Arg1680=)
n.2893C=
c.5170C= (p.Arg1724=)
c.5116C= (p.Arg1706=)
c.5131C= (p.Arg1711=)
c.5041C= (p.Arg1681=)
c.5166C=
n.3329C=
c.5239C= (p.Arg1747=)
n.4060C=
n.2497C=
n.2468C=
n.2358C=
c.4900C= (p.Arg1634=)
c.*4412C= (n.*4412C=)
c.4936C= (p.Arg1646=)
n.2968C=
c.1427C=
n.2360C=
c.5299C= (p.Arg1767=)
c.5296C= (p.Arg1766=)
c.5188C= (p.Arg1730=)
c.5167C= (p.Arg1723=)
c.4513C= (p.Arg1505=)
c.5461C= (p.Arg1821=)
c.5209C= (p.Arg1737=)
c.3955C= (p.Arg1319=)
16g.2088311C>GCA394314695TSC2c.*3594C>G (n.*3594C>G)
c.5092C>G (p.Arg1698Gly)
c.5242C>G (p.Arg1748Gly)
c.*5758C>G (n.*5758C>G)
c.*7994C>G (n.*7994C>G)
c.5245C>G (p.Arg1749Gly)
c.5176C>G (p.Arg1726Gly)
c.5044C>G (p.Arg1682Gly)
c.5077C>G (p.Arg1693Gly)
c.1468C>G
n.3127C>G
c.3899C>G
c.5104C>G (p.Arg1702Gly)
n.842C>G
c.5047C>G (p.Arg1683Gly)
c.5113C>G (p.Arg1705Gly)
c.5038C>G (p.Arg1680Gly)
n.2893C>G
c.5170C>G (p.Arg1724Gly)
c.5116C>G (p.Arg1706Gly)
c.5131C>G (p.Arg1711Gly)
c.5041C>G (p.Arg1681Gly)
c.5166C>G
n.3329C>G
c.5239C>G (p.Arg1747Gly)
n.4060C>G
n.2497C>G
n.2468C>G
n.2358C>G
c.4900C>G (p.Arg1634Gly)
c.*4412C>G (n.*4412C>G)
c.4936C>G (p.Arg1646Gly)
n.2968C>G
c.1427C>G
n.2360C>G
c.5299C>G (p.Arg1767Gly)
c.5296C>G (p.Arg1766Gly)
c.5188C>G (p.Arg1730Gly)
c.5167C>G (p.Arg1723Gly)
c.4513C>G (p.Arg1505Gly)
c.5461C>G (p.Arg1821Gly)
c.5209C>G (p.Arg1737Gly)
c.3955C>G (p.Arg1319Gly)
 dbSNP
16g.2088311C>TCA394314699TSC2c.*3594C>T (n.*3594C>T)
c.5092C>T (p.Arg1698Trp)
c.5242C>T (p.Arg1748Trp)
c.*5758C>T (n.*5758C>T)
c.*7994C>T (n.*7994C>T)
c.5245C>T (p.Arg1749Trp)
c.5176C>T (p.Arg1726Trp)
c.5044C>T (p.Arg1682Trp)
c.5077C>T (p.Arg1693Trp)
c.1468C>T
n.3127C>T
c.3899C>T
c.5104C>T (p.Arg1702Trp)
n.842C>T
c.5047C>T (p.Arg1683Trp)
c.5113C>T (p.Arg1705Trp)
c.5038C>T (p.Arg1680Trp)
n.2893C>T
c.5170C>T (p.Arg1724Trp)
c.5116C>T (p.Arg1706Trp)
c.5131C>T (p.Arg1711Trp)
c.5041C>T (p.Arg1681Trp)
c.5166C>T
n.3329C>T
c.5239C>T (p.Arg1747Trp)
n.4060C>T
n.2497C>T
n.2468C>T
n.2358C>T
c.4900C>T (p.Arg1634Trp)
c.*4412C>T (n.*4412C>T)
c.4936C>T (p.Arg1646Trp)
n.2968C>T
c.1427C>T
n.2360C>T
c.5299C>T (p.Arg1767Trp)
c.5296C>T (p.Arg1766Trp)
c.5188C>T (p.Arg1730Trp)
c.5167C>T (p.Arg1723Trp)
c.4513C>T (p.Arg1505Trp)
c.5461C>T (p.Arg1821Trp)
c.5209C>T (p.Arg1737Trp)
c.3955C>T (p.Arg1319Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2088311_2088312delinsCGCA2202032630TSC2c.*3594_*3595delinsCG (n.*3594_*3595delinsCG)
c.5092_5093delinsCG (p.Arg1698=)
c.5242_5243delinsCG (p.Arg1748=)
c.*5758_*5759delinsCG (n.*5758_*5759delinsCG)
c.*7994_*7995delinsCG (n.*7994_*7995delinsCG)
c.5245_5246delinsCG (p.Arg1749=)
c.5176_5177delinsCG (p.Arg1726=)
c.5044_5045delinsCG (p.Arg1682=)
c.5077_5078delinsCG (p.Arg1693=)
c.1468_1469delinsCG
n.3127_3128delinsCG
c.3899_3900delinsCG
c.5104_5105delinsCG (p.Arg1702=)
n.842_843delinsCG
c.5047_5048delinsCG (p.Arg1683=)
c.5113_5114delinsCG (p.Arg1705=)
c.5038_5039delinsCG (p.Arg1680=)
n.2893_2894delinsCG
c.5170_5171delinsCG (p.Arg1724=)
c.5116_5117delinsCG (p.Arg1706=)
c.5131_5132delinsCG (p.Arg1711=)
c.5041_5042delinsCG (p.Arg1681=)
c.5166_5167delinsCG
n.3329_3330delinsCG
c.5239_5240delinsCG (p.Arg1747=)
n.4060_4061delinsCG
n.2497_2498delinsCG
n.2468_2469delinsCG
n.2358_2359delinsCG
c.4900_4901delinsCG (p.Arg1634=)
c.*4412_*4413delinsCG (n.*4412_*4413delinsCG)
c.4936_4937delinsCG (p.Arg1646=)
n.2968_2969delinsCG
c.1427_1428delinsCG
n.2360_2361delinsCG
c.5299_5300delinsCG (p.Arg1767=)
c.5296_5297delinsCG (p.Arg1766=)
c.5188_5189delinsCG (p.Arg1730=)
c.5167_5168delinsCG (p.Arg1723=)
c.4513_4514delinsCG (p.Arg1505=)
c.5461_5462delinsCG (p.Arg1821=)
c.5209_5210delinsCG (p.Arg1737=)
c.3955_3956delinsCG (p.Arg1319=)
16g.2088311_2088338delinsCGGCTCCGCCAGCGGGTAGGGAATATGGCA2202032635TSC2c.*3594_*3608+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
c.5092_5106+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
c.5242_5256+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
c.*5758_*5772+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
c.*7994_*8008+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
c.5245_5259+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
c.5176_5190+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
c.5044_5058+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
c.5077_5091+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
c.1468_1482+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
n.3127_3141+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
c.3899_3913+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
c.5104_5118+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
n.842_856+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
c.5047_5061+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
c.5113_5127+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
c.5038_5052+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
n.2893_2907+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
c.5170_5184+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
c.5116_5130+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
c.5131_5145+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
c.5041_5055+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
c.5166_5180+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
n.3329_3343+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
c.5239_5253+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
n.4060_4074+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
n.2497_2511+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
n.2468_2482+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
n.2358_2372+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
c.4900_4914+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
c.*4412_*4426+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
c.4936_4950+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
n.2968_2982+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
c.1427_1441+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
n.2360_2374+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
c.5299_5313+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
c.5296_5310+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
c.5188_5202+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
c.5167_5181+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
c.4513_4527+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
c.5461_5475+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
c.5209_5223+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
c.3955_3969+13delinsCGGCTCCGCCAGCGGGTAGGGAATATGG
16g.2088312G>ACA394314713TSC2c.*3595G>A (n.*3595G>A)
c.5093G>A (p.Arg1698Gln)
c.5243G>A (p.Arg1748Gln)
c.*5759G>A (n.*5759G>A)
c.*7995G>A (n.*7995G>A)
c.5246G>A (p.Arg1749Gln)
c.5177G>A (p.Arg1726Gln)
c.5045G>A (p.Arg1682Gln)
c.5078G>A (p.Arg1693Gln)
c.1469G>A
n.3128G>A
c.3900G>A
c.5105G>A (p.Arg1702Gln)
n.843G>A
c.5048G>A (p.Arg1683Gln)
c.5114G>A (p.Arg1705Gln)
c.5039G>A (p.Arg1680Gln)
n.2894G>A
c.5171G>A (p.Arg1724Gln)
c.5117G>A (p.Arg1706Gln)
c.5132G>A (p.Arg1711Gln)
c.5042G>A (p.Arg1681Gln)
c.5167G>A
n.3330G>A
c.5240G>A (p.Arg1747Gln)
n.4061G>A
n.2498G>A
n.2469G>A
n.2359G>A
c.4901G>A (p.Arg1634Gln)
c.*4413G>A (n.*4413G>A)
c.4937G>A (p.Arg1646Gln)
n.2969G>A
c.1428G>A
n.2361G>A
c.5300G>A (p.Arg1767Gln)
c.5297G>A (p.Arg1766Gln)
c.5189G>A (p.Arg1730Gln)
c.5168G>A (p.Arg1723Gln)
c.4514G>A (p.Arg1505Gln)
c.5462G>A (p.Arg1821Gln)
c.5210G>A (p.Arg1737Gln)
c.3956G>A (p.Arg1319Gln)
 ClinVar dbSNP gnomAD v4
16g.2088312G>CCA394314711TSC2c.*3595G>C (n.*3595G>C)
c.5093G>C (p.Arg1698Pro)
c.5243G>C (p.Arg1748Pro)
c.*5759G>C (n.*5759G>C)
c.*7995G>C (n.*7995G>C)
c.5246G>C (p.Arg1749Pro)
c.5177G>C (p.Arg1726Pro)
c.5045G>C (p.Arg1682Pro)
c.5078G>C (p.Arg1693Pro)
c.1469G>C
n.3128G>C
c.3900G>C
c.5105G>C (p.Arg1702Pro)
n.843G>C
c.5048G>C (p.Arg1683Pro)
c.5114G>C (p.Arg1705Pro)
c.5039G>C (p.Arg1680Pro)
n.2894G>C
c.5171G>C (p.Arg1724Pro)
c.5117G>C (p.Arg1706Pro)
c.5132G>C (p.Arg1711Pro)
c.5042G>C (p.Arg1681Pro)
c.5167G>C
n.3330G>C
c.5240G>C (p.Arg1747Pro)
n.4061G>C
n.2498G>C
n.2469G>C
n.2359G>C
c.4901G>C (p.Arg1634Pro)
c.*4413G>C (n.*4413G>C)
c.4937G>C (p.Arg1646Pro)
n.2969G>C
c.1428G>C
n.2361G>C
c.5300G>C (p.Arg1767Pro)
c.5297G>C (p.Arg1766Pro)
c.5189G>C (p.Arg1730Pro)
c.5168G>C (p.Arg1723Pro)
c.4514G>C (p.Arg1505Pro)
c.5462G>C (p.Arg1821Pro)
c.5210G>C (p.Arg1737Pro)
c.3956G>C (p.Arg1319Pro)
 ClinVar dbSNP
16g.2088312G=CA2202032644TSC2c.*3595G= (n.*3595G=)
c.5093G= (p.Arg1698=)
c.5243G= (p.Arg1748=)
c.*5759G= (n.*5759G=)
c.*7995G= (n.*7995G=)
c.5246G= (p.Arg1749=)
c.5177G= (p.Arg1726=)
c.5045G= (p.Arg1682=)
c.5078G= (p.Arg1693=)
c.1469G=
n.3128G=
c.3900G=
c.5105G= (p.Arg1702=)
n.843G=
c.5048G= (p.Arg1683=)
c.5114G= (p.Arg1705=)
c.5039G= (p.Arg1680=)
n.2894G=
c.5171G= (p.Arg1724=)
c.5117G= (p.Arg1706=)
c.5132G= (p.Arg1711=)
c.5042G= (p.Arg1681=)
c.5167G=
n.3330G=
c.5240G= (p.Arg1747=)
n.4061G=
n.2498G=
n.2469G=
n.2359G=
c.4901G= (p.Arg1634=)
c.*4413G= (n.*4413G=)
c.4937G= (p.Arg1646=)
n.2969G=
c.1428G=
n.2361G=
c.5300G= (p.Arg1767=)
c.5297G= (p.Arg1766=)
c.5189G= (p.Arg1730=)
c.5168G= (p.Arg1723=)
c.4514G= (p.Arg1505=)
c.5462G= (p.Arg1821=)
c.5210G= (p.Arg1737=)
c.3956G= (p.Arg1319=)
16g.2088312G>TCA394314708TSC2c.*3595G>T (n.*3595G>T)
c.5093G>T (p.Arg1698Leu)
c.5243G>T (p.Arg1748Leu)
c.*5759G>T (n.*5759G>T)
c.*7995G>T (n.*7995G>T)
c.5246G>T (p.Arg1749Leu)
c.5177G>T (p.Arg1726Leu)
c.5045G>T (p.Arg1682Leu)
c.5078G>T (p.Arg1693Leu)
c.1469G>T
n.3128G>T
c.3900G>T
c.5105G>T (p.Arg1702Leu)
n.843G>T
c.5048G>T (p.Arg1683Leu)
c.5114G>T (p.Arg1705Leu)
c.5039G>T (p.Arg1680Leu)
n.2894G>T
c.5171G>T (p.Arg1724Leu)
c.5117G>T (p.Arg1706Leu)
c.5132G>T (p.Arg1711Leu)
c.5042G>T (p.Arg1681Leu)
c.5167G>T
n.3330G>T
c.5240G>T (p.Arg1747Leu)
n.4061G>T
n.2498G>T
n.2469G>T
n.2359G>T
c.4901G>T (p.Arg1634Leu)
c.*4413G>T (n.*4413G>T)
c.4937G>T (p.Arg1646Leu)
n.2969G>T
c.1428G>T
n.2361G>T
c.5300G>T (p.Arg1767Leu)
c.5297G>T (p.Arg1766Leu)
c.5189G>T (p.Arg1730Leu)
c.5168G>T (p.Arg1723Leu)
c.4514G>T (p.Arg1505Leu)
c.5462G>T (p.Arg1821Leu)
c.5210G>T (p.Arg1737Leu)
c.3956G>T (p.Arg1319Leu)
 dbSNP
16g.2088313dupCA022280TSC2c.*3596dup (n.*3596dup)
c.5094dup (p.Leu1699AlafsTer25)
c.5244dup (p.Leu1749AlafsTer25)
c.*5760dup (n.*5760dup)
c.*7996dup (n.*7996dup)
c.5247dup (p.Leu1750AlafsTer25)
c.5178dup (p.Leu1727AlafsTer25)
c.5046dup (p.Leu1683AlafsTer25)
c.5079dup (p.Leu1694AlafsTer25)
c.1470dup
n.3129dup
c.3901dup
c.5106dup (p.Leu1703AlafsTer25)
n.844dup
c.5049dup (p.Leu1684AlafsTer25)
c.5115dup (p.Leu1706AlafsTer25)
c.5040dup (p.Leu1681AlafsTer25)
n.2895dup
c.5172dup (p.Leu1725AlafsTer25)
c.5118dup (p.Leu1707AlafsTer25)
c.5133dup (p.Leu1712AlafsTer25)
c.5043dup (p.Leu1682AlafsTer25)
c.5168dup
n.3331dup
c.5241dup (p.Leu1748AlafsTer25)
n.4062dup
n.2499dup
n.2470dup
n.2360dup
c.4902dup (p.Leu1635AlafsTer25)
c.*4414dup (n.*4414dup)
c.4938dup (p.Leu1647AlafsTer25)
n.2970dup
c.1429dup
n.2362dup
c.5301dup (p.Leu1768AlafsTer25)
c.5298dup (p.Leu1767AlafsTer25)
c.5190dup (p.Leu1731AlafsTer25)
c.5169dup (p.Leu1724AlafsTer25)
c.4515dup (p.Leu1506AlafsTer25)
c.5463dup (p.Leu1822AlafsTer25)
c.5211dup (p.Leu1738AlafsTer25)
c.3957dup (p.Leu1320AlafsTer25)
 ClinVar dbSNP
16g.2088313delCA022286TSC2c.*3596del (n.*3596del)
c.5094del (p.Leu1699SerfsTer?)
c.5244del (p.Leu1749SerfsTer?)
c.*5760del (n.*5760del)
c.*7996del (n.*7996del)
c.5247del (p.Leu1750SerfsTer?)
c.5178del (p.Leu1727SerfsTer?)
c.5046del (p.Leu1683SerfsTer?)
c.5079del (p.Leu1694SerfsTer?)
c.1470del
n.3129del
c.3901del
c.5106del (p.Leu1703SerfsTer?)
n.844del
c.5049del (p.Leu1684SerfsTer?)
c.5115del (p.Leu1706SerfsTer?)
c.5040del (p.Leu1681SerfsTer?)
n.2895del
c.5172del (p.Leu1725SerfsTer?)
c.5118del (p.Leu1707SerfsTer?)
c.5133del (p.Leu1712SerfsTer?)
c.5043del (p.Leu1682SerfsTer?)
c.5168del
n.3331del
c.5241del (p.Leu1748SerfsTer?)
n.4062del
n.2499del
n.2470del
n.2360del
c.4902del (p.Leu1635SerfsTer?)
c.*4414del (n.*4414del)
c.4938del (p.Leu1647SerfsTer?)
n.2970del
c.1429del
n.2362del
c.5301del (p.Leu1768SerfsTer?)
c.5298del (p.Leu1767SerfsTer?)
c.5190del (p.Leu1731SerfsTer?)
c.5169del (p.Leu1724SerfsTer?)
c.4515del (p.Leu1506SerfsTer?)
c.5463del (p.Leu1822SerfsTer?)
c.5211del (p.Leu1738SerfsTer?)
c.3957del (p.Leu1320SerfsTer?)
 ClinVar dbSNP
16g.2088318_2088344dupCA1139664254TSC2c.*3601_*3608+19dup
c.5099_5106+19dup
c.5249_5256+19dup
c.*5765_*5772+19dup
c.*8001_*8008+19dup
c.5252_5259+19dup
c.5183_5190+19dup
c.5051_5058+19dup
c.5084_5091+19dup
c.1475_1482+19dup
n.3134_3141+19dup
c.3906_3913+19dup
c.5111_5118+19dup
n.849_856+19dup
c.5054_5061+19dup
c.5120_5127+19dup
c.5045_5052+19dup
n.2900_2907+19dup
c.5177_5184+19dup
c.5123_5130+19dup
c.5138_5145+19dup
c.5048_5055+19dup
c.5173_5180+19dup
n.3336_3343+19dup
c.5246_5253+19dup
n.4067_4074+19dup
n.2504_2511+19dup
n.2475_2482+19dup
n.2365_2372+19dup
c.4907_4914+19dup
c.*4419_*4426+19dup
c.4943_4950+19dup
n.2975_2982+19dup
c.1434_1441+19dup
n.2367_2374+19dup
c.5306_5313+19dup
c.5303_5310+19dup
c.5195_5202+19dup
c.5174_5181+19dup
c.4520_4527+19dup
c.5468_5475+19dup
c.5216_5223+19dup
c.3962_3969+19dup
 ClinVar dbSNP
16g.2088318_2088344delCA210060TSC2c.*3601_*3608+19del
c.5099_5106+19del
c.5249_5256+19del
c.*5765_*5772+19del
c.*8001_*8008+19del
c.5252_5259+19del
c.5183_5190+19del
c.5051_5058+19del
c.5084_5091+19del
c.1475_1482+19del
n.3134_3141+19del
c.3906_3913+19del
c.5111_5118+19del
n.849_856+19del
c.5054_5061+19del
c.5120_5127+19del
c.5045_5052+19del
n.2900_2907+19del
c.5177_5184+19del
c.5123_5130+19del
c.5138_5145+19del
c.5048_5055+19del
c.5173_5180+19del
n.3336_3343+19del
c.5246_5253+19del
n.4067_4074+19del
n.2504_2511+19del
n.2475_2482+19del
n.2365_2372+19del
c.4907_4914+19del
c.*4419_*4426+19del
c.4943_4950+19del
n.2975_2982+19del
c.1434_1441+19del
n.2367_2374+19del
c.5306_5313+19del
c.5303_5310+19del
c.5195_5202+19del
c.5174_5181+19del
c.4520_4527+19del
c.5468_5475+19del
c.5216_5223+19del
c.3962_3969+19del
 ClinVar dbSNP
16g.2088313G>ACA493043856TSC2c.*3596G>A (n.*3596G>A)
c.5094G>A (p.Arg1698=)
c.5244G>A (p.Arg1748=)
c.*5760G>A (n.*5760G>A)
c.*7996G>A (n.*7996G>A)
c.5247G>A (p.Arg1749=)
c.5178G>A (p.Arg1726=)
c.5046G>A (p.Arg1682=)
c.5079G>A (p.Arg1693=)
c.1470G>A
n.3129G>A
c.3901G>A
c.5106G>A (p.Arg1702=)
n.844G>A
c.5049G>A (p.Arg1683=)
c.5115G>A (p.Arg1705=)
c.5040G>A (p.Arg1680=)
n.2895G>A
c.5172G>A (p.Arg1724=)
c.5118G>A (p.Arg1706=)
c.5133G>A (p.Arg1711=)
c.5043G>A (p.Arg1681=)
c.5168G>A
n.3331G>A
c.5241G>A (p.Arg1747=)
n.4062G>A
n.2499G>A
n.2470G>A
n.2360G>A
c.4902G>A (p.Arg1634=)
c.*4414G>A (n.*4414G>A)
c.4938G>A (p.Arg1646=)
n.2970G>A
c.1429G>A
n.2362G>A
c.5301G>A (p.Arg1767=)
c.5298G>A (p.Arg1766=)
c.5190G>A (p.Arg1730=)
c.5169G>A (p.Arg1723=)
c.4515G>A (p.Arg1505=)
c.5463G>A (p.Arg1821=)
c.5211G>A (p.Arg1737=)
c.3957G>A (p.Arg1319=)
 ClinVar dbSNP gnomAD v4
16g.2088313G>CCA493043855TSC2c.*3596G>C (n.*3596G>C)
c.5094G>C (p.Arg1698=)
c.5244G>C (p.Arg1748=)
c.*5760G>C (n.*5760G>C)
c.*7996G>C (n.*7996G>C)
c.5247G>C (p.Arg1749=)
c.5178G>C (p.Arg1726=)
c.5046G>C (p.Arg1682=)
c.5079G>C (p.Arg1693=)
c.1470G>C
n.3129G>C
c.3901G>C
c.5106G>C (p.Arg1702=)
n.844G>C
c.5049G>C (p.Arg1683=)
c.5115G>C (p.Arg1705=)
c.5040G>C (p.Arg1680=)
n.2895G>C
c.5172G>C (p.Arg1724=)
c.5118G>C (p.Arg1706=)
c.5133G>C (p.Arg1711=)
c.5043G>C (p.Arg1681=)
c.5168G>C
n.3331G>C
c.5241G>C (p.Arg1747=)
n.4062G>C
n.2499G>C
n.2470G>C
n.2360G>C
c.4902G>C (p.Arg1634=)
c.*4414G>C (n.*4414G>C)
c.4938G>C (p.Arg1646=)
n.2970G>C
c.1429G>C
n.2362G>C
c.5301G>C (p.Arg1767=)
c.5298G>C (p.Arg1766=)
c.5190G>C (p.Arg1730=)
c.5169G>C (p.Arg1723=)
c.4515G>C (p.Arg1505=)
c.5463G>C (p.Arg1821=)
c.5211G>C (p.Arg1737=)
c.3957G>C (p.Arg1319=)
 dbSNP
16g.2088313G>TCA493043857TSC2c.*3596G>T (n.*3596G>T)
c.5094G>T (p.Arg1698=)
c.5244G>T (p.Arg1748=)
c.*5760G>T (n.*5760G>T)
c.*7996G>T (n.*7996G>T)
c.5247G>T (p.Arg1749=)
c.5178G>T (p.Arg1726=)
c.5046G>T (p.Arg1682=)
c.5079G>T (p.Arg1693=)
c.1470G>T
n.3129G>T
c.3901G>T
c.5106G>T (p.Arg1702=)
n.844G>T
c.5049G>T (p.Arg1683=)
c.5115G>T (p.Arg1705=)
c.5040G>T (p.Arg1680=)
n.2895G>T
c.5172G>T (p.Arg1724=)
c.5118G>T (p.Arg1706=)
c.5133G>T (p.Arg1711=)
c.5043G>T (p.Arg1681=)
c.5168G>T
n.3331G>T
c.5241G>T (p.Arg1747=)
n.4062G>T
n.2499G>T
n.2470G>T
n.2360G>T
c.4902G>T (p.Arg1634=)
c.*4414G>T (n.*4414G>T)
c.4938G>T (p.Arg1646=)
n.2970G>T
c.1429G>T
n.2362G>T
c.5301G>T (p.Arg1767=)
c.5298G>T (p.Arg1766=)
c.5190G>T (p.Arg1730=)
c.5169G>T (p.Arg1723=)
c.4515G>T (p.Arg1505=)
c.5463G>T (p.Arg1821=)
c.5211G>T (p.Arg1737=)
c.3957G>T (p.Arg1319=)
16g.2088314C>ACA394314719TSC2c.*3597C>A (n.*3597C>A)
c.5095C>A (p.Leu1699Ile)
c.5245C>A (p.Leu1749Ile)
c.*5761C>A (n.*5761C>A)
c.*7997C>A (n.*7997C>A)
c.5248C>A (p.Leu1750Ile)
c.5179C>A (p.Leu1727Ile)
c.5047C>A (p.Leu1683Ile)
c.5080C>A (p.Leu1694Ile)
c.1471C>A
n.3130C>A
c.3902C>A
c.5107C>A (p.Leu1703Ile)
n.845C>A
c.5050C>A (p.Leu1684Ile)
c.5116C>A (p.Leu1706Ile)
c.5041C>A (p.Leu1681Ile)
n.2896C>A
c.5173C>A (p.Leu1725Ile)
c.5119C>A (p.Leu1707Ile)
c.5134C>A (p.Leu1712Ile)
c.5044C>A (p.Leu1682Ile)
c.5169C>A
n.3332C>A
c.5242C>A (p.Leu1748Ile)
n.4063C>A
n.2500C>A
n.2471C>A
n.2361C>A
c.4903C>A (p.Leu1635Ile)
c.*4415C>A (n.*4415C>A)
c.4939C>A (p.Leu1647Ile)
n.2971C>A
c.1430C>A
n.2363C>A
c.5302C>A (p.Leu1768Ile)
c.5299C>A (p.Leu1767Ile)
c.5191C>A (p.Leu1731Ile)
c.5170C>A (p.Leu1724Ile)
c.4516C>A (p.Leu1506Ile)
c.5464C>A (p.Leu1822Ile)
c.5212C>A (p.Leu1738Ile)
c.3958C>A (p.Leu1320Ile)
16g.2088314C=CA2202032654TSC2c.*3597C= (n.*3597C=)
c.5095C= (p.Leu1699=)
c.5245C= (p.Leu1749=)
c.*5761C= (n.*5761C=)
c.*7997C= (n.*7997C=)
c.5248C= (p.Leu1750=)
c.5179C= (p.Leu1727=)
c.5047C= (p.Leu1683=)
c.5080C= (p.Leu1694=)
c.1471C=
n.3130C=
c.3902C=
c.5107C= (p.Leu1703=)
n.845C=
c.5050C= (p.Leu1684=)
c.5116C= (p.Leu1706=)
c.5041C= (p.Leu1681=)
n.2896C=
c.5173C= (p.Leu1725=)
c.5119C= (p.Leu1707=)
c.5134C= (p.Leu1712=)
c.5044C= (p.Leu1682=)
c.5169C=
n.3332C=
c.5242C= (p.Leu1748=)
n.4063C=
n.2500C=
n.2471C=
n.2361C=
c.4903C= (p.Leu1635=)
c.*4415C= (n.*4415C=)
c.4939C= (p.Leu1647=)
n.2971C=
c.1430C=
n.2363C=
c.5302C= (p.Leu1768=)
c.5299C= (p.Leu1767=)
c.5191C= (p.Leu1731=)
c.5170C= (p.Leu1724=)
c.4516C= (p.Leu1506=)
c.5464C= (p.Leu1822=)
c.5212C= (p.Leu1738=)
c.3958C= (p.Leu1320=)
16g.2088314C>GCA394314722TSC2c.*3597C>G (n.*3597C>G)
c.5095C>G (p.Leu1699Val)
c.5245C>G (p.Leu1749Val)
c.*5761C>G (n.*5761C>G)
c.*7997C>G (n.*7997C>G)
c.5248C>G (p.Leu1750Val)
c.5179C>G (p.Leu1727Val)
c.5047C>G (p.Leu1683Val)
c.5080C>G (p.Leu1694Val)
c.1471C>G
n.3130C>G
c.3902C>G
c.5107C>G (p.Leu1703Val)
n.845C>G
c.5050C>G (p.Leu1684Val)
c.5116C>G (p.Leu1706Val)
c.5041C>G (p.Leu1681Val)
n.2896C>G
c.5173C>G (p.Leu1725Val)
c.5119C>G (p.Leu1707Val)
c.5134C>G (p.Leu1712Val)
c.5044C>G (p.Leu1682Val)
c.5169C>G
n.3332C>G
c.5242C>G (p.Leu1748Val)
n.4063C>G
n.2500C>G
n.2471C>G
n.2361C>G
c.4903C>G (p.Leu1635Val)
c.*4415C>G (n.*4415C>G)
c.4939C>G (p.Leu1647Val)
n.2971C>G
c.1430C>G
n.2363C>G
c.5302C>G (p.Leu1768Val)
c.5299C>G (p.Leu1767Val)
c.5191C>G (p.Leu1731Val)
c.5170C>G (p.Leu1724Val)
c.4516C>G (p.Leu1506Val)
c.5464C>G (p.Leu1822Val)
c.5212C>G (p.Leu1738Val)
c.3958C>G (p.Leu1320Val)
 dbSNP
16g.2088314C>TCA022293TSC2c.*3597C>T (n.*3597C>T)
c.5095C>T (p.Leu1699Phe)
c.5245C>T (p.Leu1749Phe)
c.*5761C>T (n.*5761C>T)
c.*7997C>T (n.*7997C>T)
c.5248C>T (p.Leu1750Phe)
c.5179C>T (p.Leu1727Phe)
c.5047C>T (p.Leu1683Phe)
c.5080C>T (p.Leu1694Phe)
c.1471C>T
n.3130C>T
c.3902C>T
c.5107C>T (p.Leu1703Phe)
n.845C>T
c.5050C>T (p.Leu1684Phe)
c.5116C>T (p.Leu1706Phe)
c.5041C>T (p.Leu1681Phe)
n.2896C>T
c.5173C>T (p.Leu1725Phe)
c.5119C>T (p.Leu1707Phe)
c.5134C>T (p.Leu1712Phe)
c.5044C>T (p.Leu1682Phe)
c.5169C>T
n.3332C>T
c.5242C>T (p.Leu1748Phe)
n.4063C>T
n.2500C>T
n.2471C>T
n.2361C>T
c.4903C>T (p.Leu1635Phe)
c.*4415C>T (n.*4415C>T)
c.4939C>T (p.Leu1647Phe)
n.2971C>T
c.1430C>T
n.2363C>T
c.5302C>T (p.Leu1768Phe)
c.5299C>T (p.Leu1767Phe)
c.5191C>T (p.Leu1731Phe)
c.5170C>T (p.Leu1724Phe)
c.4516C>T (p.Leu1506Phe)
c.5464C>T (p.Leu1822Phe)
c.5212C>T (p.Leu1738Phe)
c.3958C>T (p.Leu1320Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2088315T>ACA394314729TSC2c.*3598T>A (n.*3598T>A)
c.5096T>A (p.Leu1699His)
c.5246T>A (p.Leu1749His)
c.*5762T>A (n.*5762T>A)
c.*7998T>A (n.*7998T>A)
c.5249T>A (p.Leu1750His)
c.5180T>A (p.Leu1727His)
c.5048T>A (p.Leu1683His)
c.5081T>A (p.Leu1694His)
c.1472T>A
n.3131T>A
c.3903T>A
c.5108T>A (p.Leu1703His)
n.846T>A
c.5051T>A (p.Leu1684His)
c.5117T>A (p.Leu1706His)
c.5042T>A (p.Leu1681His)
n.2897T>A
c.5174T>A (p.Leu1725His)
c.5120T>A (p.Leu1707His)
c.5135T>A (p.Leu1712His)
c.5045T>A (p.Leu1682His)
c.5170T>A
n.3333T>A
c.5243T>A (p.Leu1748His)
n.4064T>A
n.2501T>A
n.2472T>A
n.2362T>A
c.4904T>A (p.Leu1635His)
c.*4416T>A (n.*4416T>A)
c.4940T>A (p.Leu1647His)
n.2972T>A
c.1431T>A
n.2364T>A
c.5303T>A (p.Leu1768His)
c.5300T>A (p.Leu1767His)
c.5192T>A (p.Leu1731His)
c.5171T>A (p.Leu1724His)
c.4517T>A (p.Leu1506His)
c.5465T>A (p.Leu1822His)
c.5213T>A (p.Leu1738His)
c.3959T>A (p.Leu1320His)
 dbSNP
16g.2088315T>CCA022298TSC2c.*3598T>C (n.*3598T>C)
c.5096T>C (p.Leu1699Pro)
c.5246T>C (p.Leu1749Pro)
c.*5762T>C (n.*5762T>C)
c.*7998T>C (n.*7998T>C)
c.5249T>C (p.Leu1750Pro)
c.5180T>C (p.Leu1727Pro)
c.5048T>C (p.Leu1683Pro)
c.5081T>C (p.Leu1694Pro)
c.1472T>C
n.3131T>C
c.3903T>C
c.5108T>C (p.Leu1703Pro)
n.846T>C
c.5051T>C (p.Leu1684Pro)
c.5117T>C (p.Leu1706Pro)
c.5042T>C (p.Leu1681Pro)
n.2897T>C
c.5174T>C (p.Leu1725Pro)
c.5120T>C (p.Leu1707Pro)
c.5135T>C (p.Leu1712Pro)
c.5045T>C (p.Leu1682Pro)
c.5170T>C
n.3333T>C
c.5243T>C (p.Leu1748Pro)
n.4064T>C
n.2501T>C
n.2472T>C
n.2362T>C
c.4904T>C (p.Leu1635Pro)
c.*4416T>C (n.*4416T>C)
c.4940T>C (p.Leu1647Pro)
n.2972T>C
c.1431T>C
n.2364T>C
c.5303T>C (p.Leu1768Pro)
c.5300T>C (p.Leu1767Pro)
c.5192T>C (p.Leu1731Pro)
c.5171T>C (p.Leu1724Pro)
c.4517T>C (p.Leu1506Pro)
c.5465T>C (p.Leu1822Pro)
c.5213T>C (p.Leu1738Pro)
c.3959T>C (p.Leu1320Pro)
 ClinVar dbSNP
16g.2088315T>GCA394314733TSC2c.*3598T>G (n.*3598T>G)
c.5096T>G (p.Leu1699Arg)
c.5246T>G (p.Leu1749Arg)
c.*5762T>G (n.*5762T>G)
c.*7998T>G (n.*7998T>G)
c.5249T>G (p.Leu1750Arg)
c.5180T>G (p.Leu1727Arg)
c.5048T>G (p.Leu1683Arg)
c.5081T>G (p.Leu1694Arg)
c.1472T>G
n.3131T>G
c.3903T>G
c.5108T>G (p.Leu1703Arg)
n.846T>G
c.5051T>G (p.Leu1684Arg)
c.5117T>G (p.Leu1706Arg)
c.5042T>G (p.Leu1681Arg)
n.2897T>G
c.5174T>G (p.Leu1725Arg)
c.5120T>G (p.Leu1707Arg)
c.5135T>G (p.Leu1712Arg)
c.5045T>G (p.Leu1682Arg)
c.5170T>G
n.3333T>G
c.5243T>G (p.Leu1748Arg)
n.4064T>G
n.2501T>G
n.2472T>G
n.2362T>G
c.4904T>G (p.Leu1635Arg)
c.*4416T>G (n.*4416T>G)
c.4940T>G (p.Leu1647Arg)
n.2972T>G
c.1431T>G
n.2364T>G
c.5303T>G (p.Leu1768Arg)
c.5300T>G (p.Leu1767Arg)
c.5192T>G (p.Leu1731Arg)
c.5171T>G (p.Leu1724Arg)
c.4517T>G (p.Leu1506Arg)
c.5465T>G (p.Leu1822Arg)
c.5213T>G (p.Leu1738Arg)
c.3959T>G (p.Leu1320Arg)
16g.2088315T=CA2202032659TSC2c.*3598T= (n.*3598T=)
c.5096T= (p.Leu1699=)
c.5246T= (p.Leu1749=)
c.*5762T= (n.*5762T=)
c.*7998T= (n.*7998T=)
c.5249T= (p.Leu1750=)
c.5180T= (p.Leu1727=)
c.5048T= (p.Leu1683=)
c.5081T= (p.Leu1694=)
c.1472T=
n.3131T=
c.3903T=
c.5108T= (p.Leu1703=)
n.846T=
c.5051T= (p.Leu1684=)
c.5117T= (p.Leu1706=)
c.5042T= (p.Leu1681=)
n.2897T=
c.5174T= (p.Leu1725=)
c.5120T= (p.Leu1707=)
c.5135T= (p.Leu1712=)
c.5045T= (p.Leu1682=)
c.5170T=
n.3333T=
c.5243T= (p.Leu1748=)
n.4064T=
n.2501T=
n.2472T=
n.2362T=
c.4904T= (p.Leu1635=)
c.*4416T= (n.*4416T=)
c.4940T= (p.Leu1647=)
n.2972T=
c.1431T=
n.2364T=
c.5303T= (p.Leu1768=)
c.5300T= (p.Leu1767=)
c.5192T= (p.Leu1731=)
c.5171T= (p.Leu1724=)
c.4517T= (p.Leu1506=)
c.5465T= (p.Leu1822=)
c.5213T= (p.Leu1738=)
c.3959T= (p.Leu1320=)
16g.2088316C>ACA054561TSC2c.*3599C>A (n.*3599C>A)
c.5097C>A (p.Leu1699=)
c.5247C>A (p.Leu1749=)
c.*5763C>A (n.*5763C>A)
c.*7999C>A (n.*7999C>A)
c.5250C>A (p.Leu1750=)
c.5181C>A (p.Leu1727=)
c.5049C>A (p.Leu1683=)
c.5082C>A (p.Leu1694=)
c.1473C>A
n.3132C>A
c.3904C>A
c.5109C>A (p.Leu1703=)
n.847C>A
c.5052C>A (p.Leu1684=)
c.5118C>A (p.Leu1706=)
c.5043C>A (p.Leu1681=)
n.2898C>A
c.5175C>A (p.Leu1725=)
c.5121C>A (p.Leu1707=)
c.5136C>A (p.Leu1712=)
c.5046C>A (p.Leu1682=)
c.5171C>A
n.3334C>A
c.5244C>A (p.Leu1748=)
n.4065C>A
n.2502C>A
n.2473C>A
n.2363C>A
c.4905C>A (p.Leu1635=)
c.*4417C>A (n.*4417C>A)
c.4941C>A (p.Leu1647=)
n.2973C>A
c.1432C>A
n.2365C>A
c.5304C>A (p.Leu1768=)
c.5301C>A (p.Leu1767=)
c.5193C>A (p.Leu1731=)
c.5172C>A (p.Leu1724=)
c.4518C>A (p.Leu1506=)
c.5466C>A (p.Leu1822=)
c.5214C>A (p.Leu1738=)
c.3960C>A (p.Leu1320=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2088316C=CA2202032661TSC2c.*3599C= (n.*3599C=)
c.5097C= (p.Leu1699=)
c.5247C= (p.Leu1749=)
c.*5763C= (n.*5763C=)
c.*7999C= (n.*7999C=)
c.5250C= (p.Leu1750=)
c.5181C= (p.Leu1727=)
c.5049C= (p.Leu1683=)
c.5082C= (p.Leu1694=)
c.1473C=
n.3132C=
c.3904C=
c.5109C= (p.Leu1703=)
n.847C=
c.5052C= (p.Leu1684=)
c.5118C= (p.Leu1706=)
c.5043C= (p.Leu1681=)
n.2898C=
c.5175C= (p.Leu1725=)
c.5121C= (p.Leu1707=)
c.5136C= (p.Leu1712=)
c.5046C= (p.Leu1682=)
c.5171C=
n.3334C=
c.5244C= (p.Leu1748=)
n.4065C=
n.2502C=
n.2473C=
n.2363C=
c.4905C= (p.Leu1635=)
c.*4417C= (n.*4417C=)
c.4941C= (p.Leu1647=)
n.2973C=
c.1432C=
n.2365C=
c.5304C= (p.Leu1768=)
c.5301C= (p.Leu1767=)
c.5193C= (p.Leu1731=)
c.5172C= (p.Leu1724=)
c.4518C= (p.Leu1506=)
c.5466C= (p.Leu1822=)
c.5214C= (p.Leu1738=)
c.3960C= (p.Leu1320=)
16g.2088316C>GCA054566TSC2c.*3599C>G (n.*3599C>G)
c.5097C>G (p.Leu1699=)
c.5247C>G (p.Leu1749=)
c.*5763C>G (n.*5763C>G)
c.*7999C>G (n.*7999C>G)
c.5250C>G (p.Leu1750=)
c.5181C>G (p.Leu1727=)
c.5049C>G (p.Leu1683=)
c.5082C>G (p.Leu1694=)
c.1473C>G
n.3132C>G
c.3904C>G
c.5109C>G (p.Leu1703=)
n.847C>G
c.5052C>G (p.Leu1684=)
c.5118C>G (p.Leu1706=)
c.5043C>G (p.Leu1681=)
n.2898C>G
c.5175C>G (p.Leu1725=)
c.5121C>G (p.Leu1707=)
c.5136C>G (p.Leu1712=)
c.5046C>G (p.Leu1682=)
c.5171C>G
n.3334C>G
c.5244C>G (p.Leu1748=)
n.4065C>G
n.2502C>G
n.2473C>G
n.2363C>G
c.4905C>G (p.Leu1635=)
c.*4417C>G (n.*4417C>G)
c.4941C>G (p.Leu1647=)
n.2973C>G
c.1432C>G
n.2365C>G
c.5304C>G (p.Leu1768=)
c.5301C>G (p.Leu1767=)
c.5193C>G (p.Leu1731=)
c.5172C>G (p.Leu1724=)
c.4518C>G (p.Leu1506=)
c.5466C>G (p.Leu1822=)
c.5214C>G (p.Leu1738=)
c.3960C>G (p.Leu1320=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2088316C>TCA276759574TSC2c.*3599C>T (n.*3599C>T)
c.5097C>T (p.Leu1699=)
c.5247C>T (p.Leu1749=)
c.*5763C>T (n.*5763C>T)
c.*7999C>T (n.*7999C>T)
c.5250C>T (p.Leu1750=)
c.5181C>T (p.Leu1727=)
c.5049C>T (p.Leu1683=)
c.5082C>T (p.Leu1694=)
c.1473C>T
n.3132C>T
c.3904C>T
c.5109C>T (p.Leu1703=)
n.847C>T
c.5052C>T (p.Leu1684=)
c.5118C>T (p.Leu1706=)
c.5043C>T (p.Leu1681=)
n.2898C>T
c.5175C>T (p.Leu1725=)
c.5121C>T (p.Leu1707=)
c.5136C>T (p.Leu1712=)
c.5046C>T (p.Leu1682=)
c.5171C>T
n.3334C>T
c.5244C>T (p.Leu1748=)
n.4065C>T
n.2502C>T
n.2473C>T
n.2363C>T
c.4905C>T (p.Leu1635=)
c.*4417C>T (n.*4417C>T)
c.4941C>T (p.Leu1647=)
n.2973C>T
c.1432C>T
n.2365C>T
c.5304C>T (p.Leu1768=)
c.5301C>T (p.Leu1767=)
c.5193C>T (p.Leu1731=)
c.5172C>T (p.Leu1724=)
c.4518C>T (p.Leu1506=)
c.5466C>T (p.Leu1822=)
c.5214C>T (p.Leu1738=)
c.3960C>T (p.Leu1320=)
 ClinVar dbSNP
16g.2088317C>ACA394314746TSC2c.*3600C>A (n.*3600C>A)
c.5098C>A (p.Arg1700Ser)
c.5248C>A (p.Arg1750Ser)
c.*5764C>A (n.*5764C>A)
c.*8000C>A (n.*8000C>A)
c.5251C>A (p.Arg1751Ser)
c.5182C>A (p.Arg1728Ser)
c.5050C>A (p.Arg1684Ser)
c.5083C>A (p.Arg1695Ser)
c.1474C>A
n.3133C>A
c.3905C>A
c.5110C>A (p.Arg1704Ser)
n.848C>A
c.5053C>A (p.Arg1685Ser)
c.5119C>A (p.Arg1707Ser)
c.5044C>A (p.Arg1682Ser)
n.2899C>A
c.5176C>A (p.Arg1726Ser)
c.5122C>A (p.Arg1708Ser)
c.5137C>A (p.Arg1713Ser)
c.5047C>A (p.Arg1683Ser)
c.5172C>A
n.3335C>A
c.5245C>A (p.Arg1749Ser)
n.4066C>A
n.2503C>A
n.2474C>A
n.2364C>A
c.4906C>A (p.Arg1636Ser)
c.*4418C>A (n.*4418C>A)
c.4942C>A (p.Arg1648Ser)
n.2974C>A
c.1433C>A
n.2366C>A
c.5305C>A (p.Arg1769Ser)
c.5302C>A (p.Arg1768Ser)
c.5194C>A (p.Arg1732Ser)
c.5173C>A (p.Arg1725Ser)
c.4519C>A (p.Arg1507Ser)
c.5467C>A (p.Arg1823Ser)
c.5215C>A (p.Arg1739Ser)
c.3961C>A (p.Arg1321Ser)
16g.2088317C=CA2202032669TSC2c.*3600C= (n.*3600C=)
c.5098C= (p.Arg1700=)
c.5248C= (p.Arg1750=)
c.*5764C= (n.*5764C=)
c.*8000C= (n.*8000C=)
c.5251C= (p.Arg1751=)
c.5182C= (p.Arg1728=)
c.5050C= (p.Arg1684=)
c.5083C= (p.Arg1695=)
c.1474C=
n.3133C=
c.3905C=
c.5110C= (p.Arg1704=)
n.848C=
c.5053C= (p.Arg1685=)
c.5119C= (p.Arg1707=)
c.5044C= (p.Arg1682=)
n.2899C=
c.5176C= (p.Arg1726=)
c.5122C= (p.Arg1708=)
c.5137C= (p.Arg1713=)
c.5047C= (p.Arg1683=)
c.5172C=
n.3335C=
c.5245C= (p.Arg1749=)
n.4066C=
n.2503C=
n.2474C=
n.2364C=
c.4906C= (p.Arg1636=)
c.*4418C= (n.*4418C=)
c.4942C= (p.Arg1648=)
n.2974C=
c.1433C=
n.2366C=
c.5305C= (p.Arg1769=)
c.5302C= (p.Arg1768=)
c.5194C= (p.Arg1732=)
c.5173C= (p.Arg1725=)
c.4519C= (p.Arg1507=)
c.5467C= (p.Arg1823=)
c.5215C= (p.Arg1739=)
c.3961C= (p.Arg1321=)
16g.2088317C>GCA394314749TSC2c.*3600C>G (n.*3600C>G)
c.5098C>G (p.Arg1700Gly)
c.5248C>G (p.Arg1750Gly)
c.*5764C>G (n.*5764C>G)
c.*8000C>G (n.*8000C>G)
c.5251C>G (p.Arg1751Gly)
c.5182C>G (p.Arg1728Gly)
c.5050C>G (p.Arg1684Gly)
c.5083C>G (p.Arg1695Gly)
c.1474C>G
n.3133C>G
c.3905C>G
c.5110C>G (p.Arg1704Gly)
n.848C>G
c.5053C>G (p.Arg1685Gly)
c.5119C>G (p.Arg1707Gly)
c.5044C>G (p.Arg1682Gly)
n.2899C>G
c.5176C>G (p.Arg1726Gly)
c.5122C>G (p.Arg1708Gly)
c.5137C>G (p.Arg1713Gly)
c.5047C>G (p.Arg1683Gly)
c.5172C>G
n.3335C>G
c.5245C>G (p.Arg1749Gly)
n.4066C>G
n.2503C>G
n.2474C>G
n.2364C>G
c.4906C>G (p.Arg1636Gly)
c.*4418C>G (n.*4418C>G)
c.4942C>G (p.Arg1648Gly)
n.2974C>G
c.1433C>G
n.2366C>G
c.5305C>G (p.Arg1769Gly)
c.5302C>G (p.Arg1768Gly)
c.5194C>G (p.Arg1732Gly)
c.5173C>G (p.Arg1725Gly)
c.4519C>G (p.Arg1507Gly)
c.5467C>G (p.Arg1823Gly)
c.5215C>G (p.Arg1739Gly)
c.3961C>G (p.Arg1321Gly)
 dbSNP
16g.2088317C>TCA054573TSC2c.*3600C>T (n.*3600C>T)
c.5098C>T (p.Arg1700Cys)
c.5248C>T (p.Arg1750Cys)
c.*5764C>T (n.*5764C>T)
c.*8000C>T (n.*8000C>T)
c.5251C>T (p.Arg1751Cys)
c.5182C>T (p.Arg1728Cys)
c.5050C>T (p.Arg1684Cys)
c.5083C>T (p.Arg1695Cys)
c.1474C>T
n.3133C>T
c.3905C>T
c.5110C>T (p.Arg1704Cys)
n.848C>T
c.5053C>T (p.Arg1685Cys)
c.5119C>T (p.Arg1707Cys)
c.5044C>T (p.Arg1682Cys)
n.2899C>T
c.5176C>T (p.Arg1726Cys)
c.5122C>T (p.Arg1708Cys)
c.5137C>T (p.Arg1713Cys)
c.5047C>T (p.Arg1683Cys)
c.5172C>T
n.3335C>T
c.5245C>T (p.Arg1749Cys)
n.4066C>T
n.2503C>T
n.2474C>T
n.2364C>T
c.4906C>T (p.Arg1636Cys)
c.*4418C>T (n.*4418C>T)
c.4942C>T (p.Arg1648Cys)
n.2974C>T
c.1433C>T
n.2366C>T
c.5305C>T (p.Arg1769Cys)
c.5302C>T (p.Arg1768Cys)
c.5194C>T (p.Arg1732Cys)
c.5173C>T (p.Arg1725Cys)
c.4519C>T (p.Arg1507Cys)
c.5467C>T (p.Arg1823Cys)
c.5215C>T (p.Arg1739Cys)
c.3961C>T (p.Arg1321Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
16g.2088318G>ACA054581TSC2c.*3601G>A (n.*3601G>A)
c.5099G>A (p.Arg1700His)
c.5249G>A (p.Arg1750His)
c.*5765G>A (n.*5765G>A)
c.*8001G>A (n.*8001G>A)
c.5252G>A (p.Arg1751His)
c.5183G>A (p.Arg1728His)
c.5051G>A (p.Arg1684His)
c.5084G>A (p.Arg1695His)
c.1475G>A
n.3134G>A
c.3906G>A
c.5111G>A (p.Arg1704His)
n.849G>A
c.5054G>A (p.Arg1685His)
c.5120G>A (p.Arg1707His)
c.5045G>A (p.Arg1682His)
n.2900G>A
c.5177G>A (p.Arg1726His)
c.5123G>A (p.Arg1708His)
c.5138G>A (p.Arg1713His)
c.5048G>A (p.Arg1683His)
c.5173G>A
n.3336G>A
c.5246G>A (p.Arg1749His)
n.4067G>A
n.2504G>A
n.2475G>A
n.2365G>A
c.4907G>A (p.Arg1636His)
c.*4419G>A (n.*4419G>A)
c.4943G>A (p.Arg1648His)
n.2975G>A
c.1434G>A
n.2367G>A
c.5306G>A (p.Arg1769His)
c.5303G>A (p.Arg1768His)
c.5195G>A (p.Arg1732His)
c.5174G>A (p.Arg1725His)
c.4520G>A (p.Arg1507His)
c.5468G>A (p.Arg1823His)
c.5216G>A (p.Arg1739His)
c.3962G>A (p.Arg1321His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2088318G>CCA394314761TSC2c.*3601G>C (n.*3601G>C)
c.5099G>C (p.Arg1700Pro)
c.5249G>C (p.Arg1750Pro)
c.*5765G>C (n.*5765G>C)
c.*8001G>C (n.*8001G>C)
c.5252G>C (p.Arg1751Pro)
c.5183G>C (p.Arg1728Pro)
c.5051G>C (p.Arg1684Pro)
c.5084G>C (p.Arg1695Pro)
c.1475G>C
n.3134G>C
c.3906G>C
c.5111G>C (p.Arg1704Pro)
n.849G>C
c.5054G>C (p.Arg1685Pro)
c.5120G>C (p.Arg1707Pro)
c.5045G>C (p.Arg1682Pro)
n.2900G>C
c.5177G>C (p.Arg1726Pro)
c.5123G>C (p.Arg1708Pro)
c.5138G>C (p.Arg1713Pro)
c.5048G>C (p.Arg1683Pro)
c.5173G>C
n.3336G>C
c.5246G>C (p.Arg1749Pro)
n.4067G>C
n.2504G>C
n.2475G>C
n.2365G>C
c.4907G>C (p.Arg1636Pro)
c.*4419G>C (n.*4419G>C)
c.4943G>C (p.Arg1648Pro)
n.2975G>C
c.1434G>C
n.2367G>C
c.5306G>C (p.Arg1769Pro)
c.5303G>C (p.Arg1768Pro)
c.5195G>C (p.Arg1732Pro)
c.5174G>C (p.Arg1725Pro)
c.4520G>C (p.Arg1507Pro)
c.5468G>C (p.Arg1823Pro)
c.5216G>C (p.Arg1739Pro)
c.3962G>C (p.Arg1321Pro)
 ClinVar dbSNP
16g.2088318G=CA2202032677TSC2c.*3601G= (n.*3601G=)
c.5099G= (p.Arg1700=)
c.5249G= (p.Arg1750=)
c.*5765G= (n.*5765G=)
c.*8001G= (n.*8001G=)
c.5252G= (p.Arg1751=)
c.5183G= (p.Arg1728=)
c.5051G= (p.Arg1684=)
c.5084G= (p.Arg1695=)
c.1475G=
n.3134G=
c.3906G=
c.5111G= (p.Arg1704=)
n.849G=
c.5054G= (p.Arg1685=)
c.5120G= (p.Arg1707=)
c.5045G= (p.Arg1682=)
n.2900G=
c.5177G= (p.Arg1726=)
c.5123G= (p.Arg1708=)
c.5138G= (p.Arg1713=)
c.5048G= (p.Arg1683=)
c.5173G=
n.3336G=
c.5246G= (p.Arg1749=)
n.4067G=
n.2504G=
n.2475G=
n.2365G=
c.4907G= (p.Arg1636=)
c.*4419G= (n.*4419G=)
c.4943G= (p.Arg1648=)
n.2975G=
c.1434G=
n.2367G=
c.5306G= (p.Arg1769=)
c.5303G= (p.Arg1768=)
c.5195G= (p.Arg1732=)
c.5174G= (p.Arg1725=)
c.4520G= (p.Arg1507=)
c.5468G= (p.Arg1823=)
c.5216G= (p.Arg1739=)
c.3962G= (p.Arg1321=)
16g.2088318G>TCA394314762TSC2c.*3601G>T (n.*3601G>T)
c.5099G>T (p.Arg1700Leu)
c.5249G>T (p.Arg1750Leu)
c.*5765G>T (n.*5765G>T)
c.*8001G>T (n.*8001G>T)
c.5252G>T (p.Arg1751Leu)
c.5183G>T (p.Arg1728Leu)
c.5051G>T (p.Arg1684Leu)
c.5084G>T (p.Arg1695Leu)
c.1475G>T
n.3134G>T
c.3906G>T
c.5111G>T (p.Arg1704Leu)
n.849G>T
c.5054G>T (p.Arg1685Leu)
c.5120G>T (p.Arg1707Leu)
c.5045G>T (p.Arg1682Leu)
n.2900G>T
c.5177G>T (p.Arg1726Leu)
c.5123G>T (p.Arg1708Leu)
c.5138G>T (p.Arg1713Leu)
c.5048G>T (p.Arg1683Leu)
c.5173G>T
n.3336G>T
c.5246G>T (p.Arg1749Leu)
n.4067G>T
n.2504G>T
n.2475G>T
n.2365G>T
c.4907G>T (p.Arg1636Leu)
c.*4419G>T (n.*4419G>T)
c.4943G>T (p.Arg1648Leu)
n.2975G>T
c.1434G>T
n.2367G>T
c.5306G>T (p.Arg1769Leu)
c.5303G>T (p.Arg1768Leu)
c.5195G>T (p.Arg1732Leu)
c.5174G>T (p.Arg1725Leu)
c.4520G>T (p.Arg1507Leu)
c.5468G>T (p.Arg1823Leu)
c.5216G>T (p.Arg1739Leu)
c.3962G>T (p.Arg1321Leu)
 dbSNP
16g.2088319C>ACA493043861TSC2c.*3602C>A (n.*3602C>A)
c.5100C>A (p.Arg1700=)
c.5250C>A (p.Arg1750=)
c.*5766C>A (n.*5766C>A)
c.*8002C>A (n.*8002C>A)
c.5253C>A (p.Arg1751=)
c.5184C>A (p.Arg1728=)
c.5052C>A (p.Arg1684=)
c.5085C>A (p.Arg1695=)
c.1476C>A
n.3135C>A
c.3907C>A
c.5112C>A (p.Arg1704=)
n.850C>A
c.5055C>A (p.Arg1685=)
c.5121C>A (p.Arg1707=)
c.5046C>A (p.Arg1682=)
n.2901C>A
c.5178C>A (p.Arg1726=)
c.5124C>A (p.Arg1708=)
c.5139C>A (p.Arg1713=)
c.5049C>A (p.Arg1683=)
c.5174C>A
n.3337C>A
c.5247C>A (p.Arg1749=)
n.4068C>A
n.2505C>A
n.2476C>A
n.2366C>A
c.4908C>A (p.Arg1636=)
c.*4420C>A (n.*4420C>A)
c.4944C>A (p.Arg1648=)
n.2976C>A
c.1435C>A
n.2368C>A
c.5307C>A (p.Arg1769=)
c.5304C>A (p.Arg1768=)
c.5196C>A (p.Arg1732=)
c.5175C>A (p.Arg1725=)
c.4521C>A (p.Arg1507=)
c.5469C>A (p.Arg1823=)
c.5217C>A (p.Arg1739=)
c.3963C>A (p.Arg1321=)
 dbSNP
16g.2088319C=CA2202032686TSC2c.*3602C= (n.*3602C=)
c.5100C= (p.Arg1700=)
c.5250C= (p.Arg1750=)
c.*5766C= (n.*5766C=)
c.*8002C= (n.*8002C=)
c.5253C= (p.Arg1751=)
c.5184C= (p.Arg1728=)
c.5052C= (p.Arg1684=)
c.5085C= (p.Arg1695=)
c.1476C=
n.3135C=
c.3907C=
c.5112C= (p.Arg1704=)
n.850C=
c.5055C= (p.Arg1685=)
c.5121C= (p.Arg1707=)
c.5046C= (p.Arg1682=)
n.2901C=
c.5178C= (p.Arg1726=)
c.5124C= (p.Arg1708=)
c.5139C= (p.Arg1713=)
c.5049C= (p.Arg1683=)
c.5174C=
n.3337C=
c.5247C= (p.Arg1749=)
n.4068C=
n.2505C=
n.2476C=
n.2366C=
c.4908C= (p.Arg1636=)
c.*4420C= (n.*4420C=)
c.4944C= (p.Arg1648=)
n.2976C=
c.1435C=
n.2368C=
c.5307C= (p.Arg1769=)
c.5304C= (p.Arg1768=)
c.5196C= (p.Arg1732=)
c.5175C= (p.Arg1725=)
c.4521C= (p.Arg1507=)
c.5469C= (p.Arg1823=)
c.5217C= (p.Arg1739=)
c.3963C= (p.Arg1321=)
16g.2088319C>GCA493043862TSC2c.*3602C>G (n.*3602C>G)
c.5100C>G (p.Arg1700=)
c.5250C>G (p.Arg1750=)
c.*5766C>G (n.*5766C>G)
c.*8002C>G (n.*8002C>G)
c.5253C>G (p.Arg1751=)
c.5184C>G (p.Arg1728=)
c.5052C>G (p.Arg1684=)
c.5085C>G (p.Arg1695=)
c.1476C>G
n.3135C>G
c.3907C>G
c.5112C>G (p.Arg1704=)
n.850C>G
c.5055C>G (p.Arg1685=)
c.5121C>G (p.Arg1707=)
c.5046C>G (p.Arg1682=)
n.2901C>G
c.5178C>G (p.Arg1726=)
c.5124C>G (p.Arg1708=)
c.5139C>G (p.Arg1713=)
c.5049C>G (p.Arg1683=)
c.5174C>G
n.3337C>G
c.5247C>G (p.Arg1749=)
n.4068C>G
n.2505C>G
n.2476C>G
n.2366C>G
c.4908C>G (p.Arg1636=)
c.*4420C>G (n.*4420C>G)
c.4944C>G (p.Arg1648=)
n.2976C>G
c.1435C>G
n.2368C>G
c.5307C>G (p.Arg1769=)
c.5304C>G (p.Arg1768=)
c.5196C>G (p.Arg1732=)
c.5175C>G (p.Arg1725=)
c.4521C>G (p.Arg1507=)
c.5469C>G (p.Arg1823=)
c.5217C>G (p.Arg1739=)
c.3963C>G (p.Arg1321=)
 ClinVar dbSNP
16g.2088319C>TCA7828400TSC2c.*3602C>T (n.*3602C>T)
c.5100C>T (p.Arg1700=)
c.5250C>T (p.Arg1750=)
c.*5766C>T (n.*5766C>T)
c.*8002C>T (n.*8002C>T)
c.5253C>T (p.Arg1751=)
c.5184C>T (p.Arg1728=)
c.5052C>T (p.Arg1684=)
c.5085C>T (p.Arg1695=)
c.1476C>T
n.3135C>T
c.3907C>T
c.5112C>T (p.Arg1704=)
n.850C>T
c.5055C>T (p.Arg1685=)
c.5121C>T (p.Arg1707=)
c.5046C>T (p.Arg1682=)
n.2901C>T
c.5178C>T (p.Arg1726=)
c.5124C>T (p.Arg1708=)
c.5139C>T (p.Arg1713=)
c.5049C>T (p.Arg1683=)
c.5174C>T
n.3337C>T
c.5247C>T (p.Arg1749=)
n.4068C>T
n.2505C>T
n.2476C>T
n.2366C>T
c.4908C>T (p.Arg1636=)
c.*4420C>T (n.*4420C>T)
c.4944C>T (p.Arg1648=)
n.2976C>T
c.1435C>T
n.2368C>T
c.5307C>T (p.Arg1769=)
c.5304C>T (p.Arg1768=)
c.5196C>T (p.Arg1732=)
c.5175C>T (p.Arg1725=)
c.4521C>T (p.Arg1507=)
c.5469C>T (p.Arg1823=)
c.5217C>T (p.Arg1739=)
c.3963C>T (p.Arg1321=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2088319_2088346delinsCCAGCGGGTAGGGAATATGGGGCTCCCTCA2202032682TSC2c.*3602_*3608+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT
c.5100_5106+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT
c.5250_5256+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT
c.*5766_*5772+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT
c.*8002_*8008+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT
c.5253_5259+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT
c.5184_5190+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT
c.5052_5058+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT
c.5085_5091+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT
c.1476_1482+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT
n.3135_3141+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT
c.3907_3913+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT
c.5112_5118+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT
n.850_856+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT
c.5055_5061+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT
c.5121_5127+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT
c.5046_5052+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT
n.2901_2907+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT
c.5178_5184+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT
c.5124_5130+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT
c.5139_5145+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT
c.5049_5055+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT
c.5174_5180+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT
n.3337_3343+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT
c.5247_5253+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT
n.4068_4074+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT
n.2505_2511+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT
n.2476_2482+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT
n.2366_2372+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT
c.4908_4914+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT
c.*4420_*4426+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT
c.4944_4950+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT
n.2976_2982+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT
c.1435_1441+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT
n.2368_2374+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT
c.5307_5313+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT
c.5304_5310+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT
c.5196_5202+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT
c.5175_5181+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT
c.4521_4527+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT
c.5469_5475+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT
c.5217_5223+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT
c.3963_3969+21delinsCCAGCGGGTAGGGAATATGGGGCTCCCT
16g.2088320C>ACA394314786TSC2c.*3603C>A (n.*3603C>A)
c.5101C>A (p.Gln1701Lys)
c.5251C>A (p.Gln1751Lys)
c.*5767C>A (n.*5767C>A)
c.*8003C>A (n.*8003C>A)
c.5254C>A (p.Gln1752Lys)
c.5185C>A (p.Gln1729Lys)
c.5053C>A (p.Gln1685Lys)
c.5086C>A (p.Gln1696Lys)
c.1477C>A
n.3136C>A
c.3908C>A
c.5113C>A (p.Gln1705Lys)
n.851C>A
c.5056C>A (p.Gln1686Lys)
c.5122C>A (p.Gln1708Lys)
c.5047C>A (p.Gln1683Lys)
n.2902C>A
c.5179C>A (p.Gln1727Lys)
c.5125C>A (p.Gln1709Lys)
c.5140C>A (p.Gln1714Lys)
c.5050C>A (p.Gln1684Lys)
c.5175C>A
n.3338C>A
c.5248C>A (p.Gln1750Lys)
n.4069C>A
n.2506C>A
n.2477C>A
n.2367C>A
c.4909C>A (p.Gln1637Lys)
c.*4421C>A (n.*4421C>A)
c.4945C>A (p.Gln1649Lys)
n.2977C>A
c.1436C>A
n.2369C>A
c.5308C>A (p.Gln1770Lys)
c.5305C>A (p.Gln1769Lys)
c.5197C>A (p.Gln1733Lys)
c.5176C>A (p.Gln1726Lys)
c.4522C>A (p.Gln1508Lys)
c.5470C>A (p.Gln1824Lys)
c.5218C>A (p.Gln1740Lys)
c.3964C>A (p.Gln1322Lys)
16g.2088320C=CA2202032696TSC2c.*3603C= (n.*3603C=)
c.5101C= (p.Gln1701=)
c.5251C= (p.Gln1751=)
c.*5767C= (n.*5767C=)
c.*8003C= (n.*8003C=)
c.5254C= (p.Gln1752=)
c.5185C= (p.Gln1729=)
c.5053C= (p.Gln1685=)
c.5086C= (p.Gln1696=)
c.1477C=
n.3136C=
c.3908C=
c.5113C= (p.Gln1705=)
n.851C=
c.5056C= (p.Gln1686=)
c.5122C= (p.Gln1708=)
c.5047C= (p.Gln1683=)
n.2902C=
c.5179C= (p.Gln1727=)
c.5125C= (p.Gln1709=)
c.5140C= (p.Gln1714=)
c.5050C= (p.Gln1684=)
c.5175C=
n.3338C=
c.5248C= (p.Gln1750=)
n.4069C=
n.2506C=
n.2477C=
n.2367C=
c.4909C= (p.Gln1637=)
c.*4421C= (n.*4421C=)
c.4945C= (p.Gln1649=)
n.2977C=
c.1436C=
n.2369C=
c.5308C= (p.Gln1770=)
c.5305C= (p.Gln1769=)
c.5197C= (p.Gln1733=)
c.5176C= (p.Gln1726=)
c.4522C= (p.Gln1508=)
c.5470C= (p.Gln1824=)
c.5218C= (p.Gln1740=)
c.3964C= (p.Gln1322=)
16g.2088320C>GCA394314782TSC2c.*3603C>G (n.*3603C>G)
c.5101C>G (p.Gln1701Glu)
c.5251C>G (p.Gln1751Glu)
c.*5767C>G (n.*5767C>G)
c.*8003C>G (n.*8003C>G)
c.5254C>G (p.Gln1752Glu)
c.5185C>G (p.Gln1729Glu)
c.5053C>G (p.Gln1685Glu)
c.5086C>G (p.Gln1696Glu)
c.1477C>G
n.3136C>G
c.3908C>G
c.5113C>G (p.Gln1705Glu)
n.851C>G
c.5056C>G (p.Gln1686Glu)
c.5122C>G (p.Gln1708Glu)
c.5047C>G (p.Gln1683Glu)
n.2902C>G
c.5179C>G (p.Gln1727Glu)
c.5125C>G (p.Gln1709Glu)
c.5140C>G (p.Gln1714Glu)
c.5050C>G (p.Gln1684Glu)
c.5175C>G
n.3338C>G
c.5248C>G (p.Gln1750Glu)
n.4069C>G
n.2506C>G
n.2477C>G
n.2367C>G
c.4909C>G (p.Gln1637Glu)
c.*4421C>G (n.*4421C>G)
c.4945C>G (p.Gln1649Glu)
n.2977C>G
c.1436C>G
n.2369C>G
c.5308C>G (p.Gln1770Glu)
c.5305C>G (p.Gln1769Glu)
c.5197C>G (p.Gln1733Glu)
c.5176C>G (p.Gln1726Glu)
c.4522C>G (p.Gln1508Glu)
c.5470C>G (p.Gln1824Glu)
c.5218C>G (p.Gln1740Glu)
c.3964C>G (p.Gln1322Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2088320C>TCA022307TSC2c.*3603C>T (n.*3603C>T)
c.5101C>T (p.Gln1701Ter)
c.5251C>T (p.Gln1751Ter)
c.*5767C>T (n.*5767C>T)
c.*8003C>T (n.*8003C>T)
c.5254C>T (p.Gln1752Ter)
c.5185C>T (p.Gln1729Ter)
c.5053C>T (p.Gln1685Ter)
c.5086C>T (p.Gln1696Ter)
c.1477C>T
n.3136C>T
c.3908C>T
c.5113C>T (p.Gln1705Ter)
n.851C>T
c.5056C>T (p.Gln1686Ter)
c.5122C>T (p.Gln1708Ter)
c.5047C>T (p.Gln1683Ter)
n.2902C>T
c.5179C>T (p.Gln1727Ter)
c.5125C>T (p.Gln1709Ter)
c.5140C>T (p.Gln1714Ter)
c.5050C>T (p.Gln1684Ter)
c.5175C>T
n.3338C>T
c.5248C>T (p.Gln1750Ter)
n.4069C>T
n.2506C>T
n.2477C>T
n.2367C>T
c.4909C>T (p.Gln1637Ter)
c.*4421C>T (n.*4421C>T)
c.4945C>T (p.Gln1649Ter)
n.2977C>T
c.1436C>T
n.2369C>T
c.5308C>T (p.Gln1770Ter)
c.5305C>T (p.Gln1769Ter)
c.5197C>T (p.Gln1733Ter)
c.5176C>T (p.Gln1726Ter)
c.4522C>T (p.Gln1508Ter)
c.5470C>T (p.Gln1824Ter)
c.5218C>T (p.Gln1740Ter)
c.3964C>T (p.Gln1322Ter)
 ClinVar dbSNP
16g.2088327_2088353dupCA7828399TSC2c.*3608+2_*3608+28dup
c.5106+2_5106+28dup
c.5256+2_5256+28dup
c.*5772+2_*5772+28dup
c.*8008+2_*8008+28dup
c.5259+2_5259+28dup
c.5190+2_5190+28dup
c.5058+2_5058+28dup
c.5091+2_5091+28dup
c.1482+2_1482+28dup
n.3141+2_3141+28dup
c.3913+2_3913+28dup
c.5118+2_5118+28dup
n.856+2_856+28dup
c.5061+2_5061+28dup
c.5127+2_5127+28dup
c.5052+2_5052+28dup
n.2907+2_2907+28dup
c.5184+2_5184+28dup
c.5130+2_5130+28dup
c.5145+2_5145+28dup
c.5055+2_5055+28dup
c.5180+2_5180+28dup
n.3343+2_3343+28dup
c.5253+2_5253+28dup
n.4074+2_4074+28dup
n.2511+2_2511+28dup
n.2482+2_2482+28dup
n.2372+2_2372+28dup
c.4914+2_4914+28dup
c.*4426+2_*4426+28dup
c.4950+2_4950+28dup
n.2982+2_2982+28dup
c.1441+2_1441+28dup
n.2374+2_2374+28dup
c.5313+2_5313+28dup
c.5310+2_5310+28dup
c.5202+2_5202+28dup
c.5181+2_5181+28dup
c.4527+2_4527+28dup
c.5475+2_5475+28dup
c.5223+2_5223+28dup
c.3969+2_3969+28dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2088327_2088353delCA7828398TSC2c.*3608+2_*3608+28del
c.5106+2_5106+28del
c.5256+2_5256+28del
c.*5772+2_*5772+28del
c.*8008+2_*8008+28del
c.5259+2_5259+28del
c.5190+2_5190+28del
c.5058+2_5058+28del
c.5091+2_5091+28del
c.1482+2_1482+28del
n.3141+2_3141+28del
c.3913+2_3913+28del
c.5118+2_5118+28del
n.856+2_856+28del
c.5061+2_5061+28del
c.5127+2_5127+28del
c.5052+2_5052+28del
n.2907+2_2907+28del
c.5184+2_5184+28del
c.5130+2_5130+28del
c.5145+2_5145+28del
c.5055+2_5055+28del
c.5180+2_5180+28del
n.3343+2_3343+28del
c.5253+2_5253+28del
n.4074+2_4074+28del
n.2511+2_2511+28del
n.2482+2_2482+28del
n.2372+2_2372+28del
c.4914+2_4914+28del
c.*4426+2_*4426+28del
c.4950+2_4950+28del
n.2982+2_2982+28del
c.1441+2_1441+28del
n.2374+2_2374+28del
c.5313+2_5313+28del
c.5310+2_5310+28del
c.5202+2_5202+28del
c.5181+2_5181+28del
c.4527+2_4527+28del
c.5475+2_5475+28del
c.5223+2_5223+28del
c.3969+2_3969+28del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2088321A>CCA394314791TSC2c.*3604A>C (n.*3604A>C)
c.5102A>C (p.Gln1701Pro)
c.5252A>C (p.Gln1751Pro)
c.*5768A>C (n.*5768A>C)
c.*8004A>C (n.*8004A>C)
c.5255A>C (p.Gln1752Pro)
c.5186A>C (p.Gln1729Pro)
c.5054A>C (p.Gln1685Pro)
c.5087A>C (p.Gln1696Pro)
c.1478A>C
n.3137A>C
c.3909A>C
c.5114A>C (p.Gln1705Pro)
n.852A>C
c.5057A>C (p.Gln1686Pro)
c.5123A>C (p.Gln1708Pro)
c.5048A>C (p.Gln1683Pro)
n.2903A>C
c.5180A>C (p.Gln1727Pro)
c.5126A>C (p.Gln1709Pro)
c.5141A>C (p.Gln1714Pro)
c.5051A>C (p.Gln1684Pro)
c.5176A>C
n.3339A>C
c.5249A>C (p.Gln1750Pro)
n.4070A>C
n.2507A>C
n.2478A>C
n.2368A>C
c.4910A>C (p.Gln1637Pro)
c.*4422A>C (n.*4422A>C)
c.4946A>C (p.Gln1649Pro)
n.2978A>C
c.1437A>C
n.2370A>C
c.5309A>C (p.Gln1770Pro)
c.5306A>C (p.Gln1769Pro)
c.5198A>C (p.Gln1733Pro)
c.5177A>C (p.Gln1726Pro)
c.4523A>C (p.Gln1508Pro)
c.5471A>C (p.Gln1824Pro)
c.5219A>C (p.Gln1740Pro)
c.3965A>C (p.Gln1322Pro)
 ClinVar
16g.2088321A>GCA394314795TSC2c.*3604A>G (n.*3604A>G)
c.5102A>G (p.Gln1701Arg)
c.5252A>G (p.Gln1751Arg)
c.*5768A>G (n.*5768A>G)
c.*8004A>G (n.*8004A>G)
c.5255A>G (p.Gln1752Arg)
c.5186A>G (p.Gln1729Arg)
c.5054A>G (p.Gln1685Arg)
c.5087A>G (p.Gln1696Arg)
c.1478A>G
n.3137A>G
c.3909A>G
c.5114A>G (p.Gln1705Arg)
n.852A>G
c.5057A>G (p.Gln1686Arg)
c.5123A>G (p.Gln1708Arg)
c.5048A>G (p.Gln1683Arg)
n.2903A>G
c.5180A>G (p.Gln1727Arg)
c.5126A>G (p.Gln1709Arg)
c.5141A>G (p.Gln1714Arg)
c.5051A>G (p.Gln1684Arg)
c.5176A>G
n.3339A>G
c.5249A>G (p.Gln1750Arg)
n.4070A>G
n.2507A>G
n.2478A>G
n.2368A>G
c.4910A>G (p.Gln1637Arg)
c.*4422A>G (n.*4422A>G)
c.4946A>G (p.Gln1649Arg)
n.2978A>G
c.1437A>G
n.2370A>G
c.5309A>G (p.Gln1770Arg)
c.5306A>G (p.Gln1769Arg)
c.5198A>G (p.Gln1733Arg)
c.5177A>G (p.Gln1726Arg)
c.4523A>G (p.Gln1508Arg)
c.5471A>G (p.Gln1824Arg)
c.5219A>G (p.Gln1740Arg)
c.3965A>G (p.Gln1322Arg)
 ClinVar dbSNP gnomAD v4
16g.2088321A>TCA394314799TSC2c.*3604A>T (n.*3604A>T)
c.5102A>T (p.Gln1701Leu)
c.5252A>T (p.Gln1751Leu)
c.*5768A>T (n.*5768A>T)
c.*8004A>T (n.*8004A>T)
c.5255A>T (p.Gln1752Leu)
c.5186A>T (p.Gln1729Leu)
c.5054A>T (p.Gln1685Leu)
c.5087A>T (p.Gln1696Leu)
c.1478A>T
n.3137A>T
c.3909A>T
c.5114A>T (p.Gln1705Leu)
n.852A>T
c.5057A>T (p.Gln1686Leu)
c.5123A>T (p.Gln1708Leu)
c.5048A>T (p.Gln1683Leu)
n.2903A>T
c.5180A>T (p.Gln1727Leu)
c.5126A>T (p.Gln1709Leu)
c.5141A>T (p.Gln1714Leu)
c.5051A>T (p.Gln1684Leu)
c.5176A>T
n.3339A>T
c.5249A>T (p.Gln1750Leu)
n.4070A>T
n.2507A>T
n.2478A>T
n.2368A>T
c.4910A>T (p.Gln1637Leu)
c.*4422A>T (n.*4422A>T)
c.4946A>T (p.Gln1649Leu)
n.2978A>T
c.1437A>T
n.2370A>T
c.5309A>T (p.Gln1770Leu)
c.5306A>T (p.Gln1769Leu)
c.5198A>T (p.Gln1733Leu)
c.5177A>T (p.Gln1726Leu)
c.4523A>T (p.Gln1508Leu)
c.5471A>T (p.Gln1824Leu)
c.5219A>T (p.Gln1740Leu)
c.3965A>T (p.Gln1322Leu)
 dbSNP
16g.2088321_2088322delinsAGCA2202032704TSC2c.*3604_*3605delinsAG (n.*3604_*3605delinsAG)
c.5102_5103delinsAG (p.Gln1701=)
c.5252_5253delinsAG (p.Gln1751=)
c.*5768_*5769delinsAG (n.*5768_*5769delinsAG)
c.*8004_*8005delinsAG (n.*8004_*8005delinsAG)
c.5255_5256delinsAG (p.Gln1752=)
c.5186_5187delinsAG (p.Gln1729=)
c.5054_5055delinsAG (p.Gln1685=)
c.5087_5088delinsAG (p.Gln1696=)
c.1478_1479delinsAG
n.3137_3138delinsAG
c.3909_3910delinsAG
c.5114_5115delinsAG (p.Gln1705=)
n.852_853delinsAG
c.5057_5058delinsAG (p.Gln1686=)
c.5123_5124delinsAG (p.Gln1708=)
c.5048_5049delinsAG (p.Gln1683=)
n.2903_2904delinsAG
c.5180_5181delinsAG (p.Gln1727=)
c.5126_5127delinsAG (p.Gln1709=)
c.5141_5142delinsAG (p.Gln1714=)
c.5051_5052delinsAG (p.Gln1684=)
c.5176_5177delinsAG
n.3339_3340delinsAG
c.5249_5250delinsAG (p.Gln1750=)
n.4070_4071delinsAG
n.2507_2508delinsAG
n.2478_2479delinsAG
n.2368_2369delinsAG
c.4910_4911delinsAG (p.Gln1637=)
c.*4422_*4423delinsAG (n.*4422_*4423delinsAG)
c.4946_4947delinsAG (p.Gln1649=)
n.2978_2979delinsAG
c.1437_1438delinsAG
n.2370_2371delinsAG
c.5309_5310delinsAG (p.Gln1770=)
c.5306_5307delinsAG (p.Gln1769=)
c.5198_5199delinsAG (p.Gln1733=)
c.5177_5178delinsAG (p.Gln1726=)
c.4523_4524delinsAG (p.Gln1508=)
c.5471_5472delinsAG (p.Gln1824=)
c.5219_5220delinsAG (p.Gln1740=)
c.3965_3966delinsAG (p.Gln1322=)
16g.2088322delCA2202032706TSC2c.*3605del (n.*3605del)
c.5103del (p.Gln1701HisfsTer?)
c.5253del (p.Gln1751HisfsTer?)
c.*5769del (n.*5769del)
c.*8005del (n.*8005del)
c.5256del (p.Gln1752HisfsTer?)
c.5187del (p.Gln1729HisfsTer?)
c.5055del (p.Gln1685HisfsTer?)
c.5088del (p.Gln1696HisfsTer?)
c.1479del
n.3138del
c.3910del
c.5115del (p.Gln1705HisfsTer?)
n.853del
c.5058del (p.Gln1686HisfsTer?)
c.5124del (p.Gln1708HisfsTer?)
c.5049del (p.Gln1683HisfsTer?)
n.2904del
c.5181del (p.Gln1727HisfsTer?)
c.5127del (p.Gln1709HisfsTer?)
c.5142del (p.Gln1714HisfsTer?)
c.5052del (p.Gln1684HisfsTer?)
c.5177del
n.3340del
c.5250del (p.Gln1750HisfsTer?)
n.4071del
n.2508del
n.2479del
n.2369del
c.4911del (p.Gln1637HisfsTer?)
c.*4423del (n.*4423del)
c.4947del (p.Gln1649HisfsTer?)
n.2979del
c.1438del
n.2371del
c.5310del (p.Gln1770HisfsTer?)
c.5307del (p.Gln1769HisfsTer?)
c.5199del (p.Gln1733HisfsTer?)
c.5178del (p.Gln1726HisfsTer?)
c.4524del (p.Gln1508HisfsTer?)
c.5472del (p.Gln1824HisfsTer?)
c.5220del (p.Gln1740HisfsTer?)
c.3966del (p.Gln1322HisfsTer?)
 dbSNP
16g.2088322G>ACA493043866TSC2c.*3605G>A (n.*3605G>A)
c.5103G>A (p.Gln1701=)
c.5253G>A (p.Gln1751=)
c.*5769G>A (n.*5769G>A)
c.*8005G>A (n.*8005G>A)
c.5256G>A (p.Gln1752=)
c.5187G>A (p.Gln1729=)
c.5055G>A (p.Gln1685=)
c.5088G>A (p.Gln1696=)
c.1479G>A
n.3138G>A
c.3910G>A
c.5115G>A (p.Gln1705=)
n.853G>A
c.5058G>A (p.Gln1686=)
c.5124G>A (p.Gln1708=)
c.5049G>A (p.Gln1683=)
n.2904G>A
c.5181G>A (p.Gln1727=)
c.5127G>A (p.Gln1709=)
c.5142G>A (p.Gln1714=)
c.5052G>A (p.Gln1684=)
c.5177G>A
n.3340G>A
c.5250G>A (p.Gln1750=)
n.4071G>A
n.2508G>A
n.2479G>A
n.2369G>A
c.4911G>A (p.Gln1637=)
c.*4423G>A (n.*4423G>A)
c.4947G>A (p.Gln1649=)
n.2979G>A
c.1438G>A
n.2371G>A
c.5310G>A (p.Gln1770=)
c.5307G>A (p.Gln1769=)
c.5199G>A (p.Gln1733=)
c.5178G>A (p.Gln1726=)
c.4524G>A (p.Gln1508=)
c.5472G>A (p.Gln1824=)
c.5220G>A (p.Gln1740=)
c.3966G>A (p.Gln1322=)
 ClinVar dbSNP gnomAD v4
16g.2088322G>CCA394314803TSC2c.*3605G>C (n.*3605G>C)
c.5103G>C (p.Gln1701His)
c.5253G>C (p.Gln1751His)
c.*5769G>C (n.*5769G>C)
c.*8005G>C (n.*8005G>C)
c.5256G>C (p.Gln1752His)
c.5187G>C (p.Gln1729His)
c.5055G>C (p.Gln1685His)
c.5088G>C (p.Gln1696His)
c.1479G>C
n.3138G>C
c.3910G>C
c.5115G>C (p.Gln1705His)
n.853G>C
c.5058G>C (p.Gln1686His)
c.5124G>C (p.Gln1708His)
c.5049G>C (p.Gln1683His)
n.2904G>C
c.5181G>C (p.Gln1727His)
c.5127G>C (p.Gln1709His)
c.5142G>C (p.Gln1714His)
c.5052G>C (p.Gln1684His)
c.5177G>C
n.3340G>C
c.5250G>C (p.Gln1750His)
n.4071G>C
n.2508G>C
n.2479G>C
n.2369G>C
c.4911G>C (p.Gln1637His)
c.*4423G>C (n.*4423G>C)
c.4947G>C (p.Gln1649His)
n.2979G>C
c.1438G>C
n.2371G>C
c.5310G>C (p.Gln1770His)
c.5307G>C (p.Gln1769His)
c.5199G>C (p.Gln1733His)
c.5178G>C (p.Gln1726His)
c.4524G>C (p.Gln1508His)
c.5472G>C (p.Gln1824His)
c.5220G>C (p.Gln1740His)
c.3966G>C (p.Gln1322His)
 dbSNP gnomAD v4
16g.2088322G>TCA394314807TSC2c.*3605G>T (n.*3605G>T)
c.5103G>T (p.Gln1701His)
c.5253G>T (p.Gln1751His)
c.*5769G>T (n.*5769G>T)
c.*8005G>T (n.*8005G>T)
c.5256G>T (p.Gln1752His)
c.5187G>T (p.Gln1729His)
c.5055G>T (p.Gln1685His)
c.5088G>T (p.Gln1696His)
c.1479G>T
n.3138G>T
c.3910G>T
c.5115G>T (p.Gln1705His)
n.853G>T
c.5058G>T (p.Gln1686His)
c.5124G>T (p.Gln1708His)
c.5049G>T (p.Gln1683His)
n.2904G>T
c.5181G>T (p.Gln1727His)
c.5127G>T (p.Gln1709His)
c.5142G>T (p.Gln1714His)
c.5052G>T (p.Gln1684His)
c.5177G>T
n.3340G>T
c.5250G>T (p.Gln1750His)
n.4071G>T
n.2508G>T
n.2479G>T
n.2369G>T
c.4911G>T (p.Gln1637His)
c.*4423G>T (n.*4423G>T)
c.4947G>T (p.Gln1649His)
n.2979G>T
c.1438G>T
n.2371G>T
c.5310G>T (p.Gln1770His)
c.5307G>T (p.Gln1769His)
c.5199G>T (p.Gln1733His)
c.5178G>T (p.Gln1726His)
c.4524G>T (p.Gln1508His)
c.5472G>T (p.Gln1824His)
c.5220G>T (p.Gln1740His)
c.3966G>T (p.Gln1322His)
16g.2088323C>ACA054593TSC2c.*3606C>A (n.*3606C>A)
c.5104C>A (p.Arg1702=)
c.5254C>A (p.Arg1752=)
c.*5770C>A (n.*5770C>A)
c.*8006C>A (n.*8006C>A)
c.5257C>A (p.Arg1753=)
c.5188C>A (p.Arg1730=)
c.5056C>A (p.Arg1686=)
c.5089C>A (p.Arg1697=)
c.1480C>A
n.3139C>A
c.3911C>A
c.5116C>A (p.Arg1706=)
n.854C>A
c.5059C>A (p.Arg1687=)
c.5125C>A (p.Arg1709=)
c.5050C>A (p.Arg1684=)
n.2905C>A
c.5182C>A (p.Arg1728=)
c.5128C>A (p.Arg1710=)
c.5143C>A (p.Arg1715=)
c.5053C>A (p.Arg1685=)
c.5178C>A
n.3341C>A
c.5251C>A (p.Arg1751=)
n.4072C>A
n.2509C>A
n.2480C>A
n.2370C>A
c.4912C>A (p.Arg1638=)
c.*4424C>A (n.*4424C>A)
c.4948C>A (p.Arg1650=)
n.2980C>A
c.1439C>A
n.2372C>A
c.5311C>A (p.Arg1771=)
c.5308C>A (p.Arg1770=)
c.5200C>A (p.Arg1734=)
c.5179C>A (p.Arg1727=)
c.4525C>A (p.Arg1509=)
c.5473C>A (p.Arg1825=)
c.5221C>A (p.Arg1741=)
c.3967C>A (p.Arg1323=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2088323C=CA2202032710TSC2c.*3606C= (n.*3606C=)
c.5104C= (p.Arg1702=)
c.5254C= (p.Arg1752=)
c.*5770C= (n.*5770C=)
c.*8006C= (n.*8006C=)
c.5257C= (p.Arg1753=)
c.5188C= (p.Arg1730=)
c.5056C= (p.Arg1686=)
c.5089C= (p.Arg1697=)
c.1480C=
n.3139C=
c.3911C=
c.5116C= (p.Arg1706=)
n.854C=
c.5059C= (p.Arg1687=)
c.5125C= (p.Arg1709=)
c.5050C= (p.Arg1684=)
n.2905C=
c.5182C= (p.Arg1728=)
c.5128C= (p.Arg1710=)
c.5143C= (p.Arg1715=)
c.5053C= (p.Arg1685=)
c.5178C=
n.3341C=
c.5251C= (p.Arg1751=)
n.4072C=
n.2509C=
n.2480C=
n.2370C=
c.4912C= (p.Arg1638=)
c.*4424C= (n.*4424C=)
c.4948C= (p.Arg1650=)
n.2980C=
c.1439C=
n.2372C=
c.5311C= (p.Arg1771=)
c.5308C= (p.Arg1770=)
c.5200C= (p.Arg1734=)
c.5179C= (p.Arg1727=)
c.4525C= (p.Arg1509=)
c.5473C= (p.Arg1825=)
c.5221C= (p.Arg1741=)
c.3967C= (p.Arg1323=)
16g.2088323C>GCA394314811TSC2c.*3606C>G (n.*3606C>G)
c.5104C>G (p.Arg1702Gly)
c.5254C>G (p.Arg1752Gly)
c.*5770C>G (n.*5770C>G)
c.*8006C>G (n.*8006C>G)
c.5257C>G (p.Arg1753Gly)
c.5188C>G (p.Arg1730Gly)
c.5056C>G (p.Arg1686Gly)
c.5089C>G (p.Arg1697Gly)
c.1480C>G
n.3139C>G
c.3911C>G
c.5116C>G (p.Arg1706Gly)
n.854C>G
c.5059C>G (p.Arg1687Gly)
c.5125C>G (p.Arg1709Gly)
c.5050C>G (p.Arg1684Gly)
n.2905C>G
c.5182C>G (p.Arg1728Gly)
c.5128C>G (p.Arg1710Gly)
c.5143C>G (p.Arg1715Gly)
c.5053C>G (p.Arg1685Gly)
c.5178C>G
n.3341C>G
c.5251C>G (p.Arg1751Gly)
n.4072C>G
n.2509C>G
n.2480C>G
n.2370C>G
c.4912C>G (p.Arg1638Gly)
c.*4424C>G (n.*4424C>G)
c.4948C>G (p.Arg1650Gly)
n.2980C>G
c.1439C>G
n.2372C>G
c.5311C>G (p.Arg1771Gly)
c.5308C>G (p.Arg1770Gly)
c.5200C>G (p.Arg1734Gly)
c.5179C>G (p.Arg1727Gly)
c.4525C>G (p.Arg1509Gly)
c.5473C>G (p.Arg1825Gly)
c.5221C>G (p.Arg1741Gly)
c.3967C>G (p.Arg1323Gly)
 ClinVar dbSNP
16g.2088323C>TCA054606TSC2c.*3606C>T (n.*3606C>T)
c.5104C>T (p.Arg1702Trp)
c.5254C>T (p.Arg1752Trp)
c.*5770C>T (n.*5770C>T)
c.*8006C>T (n.*8006C>T)
c.5257C>T (p.Arg1753Trp)
c.5188C>T (p.Arg1730Trp)
c.5056C>T (p.Arg1686Trp)
c.5089C>T (p.Arg1697Trp)
c.1480C>T
n.3139C>T
c.3911C>T
c.5116C>T (p.Arg1706Trp)
n.854C>T
c.5059C>T (p.Arg1687Trp)
c.5125C>T (p.Arg1709Trp)
c.5050C>T (p.Arg1684Trp)
n.2905C>T
c.5182C>T (p.Arg1728Trp)
c.5128C>T (p.Arg1710Trp)
c.5143C>T (p.Arg1715Trp)
c.5053C>T (p.Arg1685Trp)
c.5178C>T
n.3341C>T
c.5251C>T (p.Arg1751Trp)
n.4072C>T
n.2509C>T
n.2480C>T
n.2370C>T
c.4912C>T (p.Arg1638Trp)
c.*4424C>T (n.*4424C>T)
c.4948C>T (p.Arg1650Trp)
n.2980C>T
c.1439C>T
n.2372C>T
c.5311C>T (p.Arg1771Trp)
c.5308C>T (p.Arg1770Trp)
c.5200C>T (p.Arg1734Trp)
c.5179C>T (p.Arg1727Trp)
c.4525C>T (p.Arg1509Trp)
c.5473C>T (p.Arg1825Trp)
c.5221C>T (p.Arg1741Trp)
c.3967C>T (p.Arg1323Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2088323_2088324delinsCGCA2202032709TSC2c.*3606_*3607delinsCG (n.*3606_*3607delinsCG)
c.5104_5105delinsCG (p.Arg1702=)
c.5254_5255delinsCG (p.Arg1752=)
c.*5770_*5771delinsCG (n.*5770_*5771delinsCG)
c.*8006_*8007delinsCG (n.*8006_*8007delinsCG)
c.5257_5258delinsCG (p.Arg1753=)
c.5188_5189delinsCG (p.Arg1730=)
c.5056_5057delinsCG (p.Arg1686=)
c.5089_5090delinsCG (p.Arg1697=)
c.1480_1481delinsCG
n.3139_3140delinsCG
c.3911_3912delinsCG
c.5116_5117delinsCG (p.Arg1706=)
n.854_855delinsCG
c.5059_5060delinsCG (p.Arg1687=)
c.5125_5126delinsCG (p.Arg1709=)
c.5050_5051delinsCG (p.Arg1684=)
n.2905_2906delinsCG
c.5182_5183delinsCG (p.Arg1728=)
c.5128_5129delinsCG (p.Arg1710=)
c.5143_5144delinsCG (p.Arg1715=)
c.5053_5054delinsCG (p.Arg1685=)
c.5178_5179delinsCG
n.3341_3342delinsCG
c.5251_5252delinsCG (p.Arg1751=)
n.4072_4073delinsCG
n.2509_2510delinsCG
n.2480_2481delinsCG
n.2370_2371delinsCG
c.4912_4913delinsCG (p.Arg1638=)
c.*4424_*4425delinsCG (n.*4424_*4425delinsCG)
c.4948_4949delinsCG (p.Arg1650=)
n.2980_2981delinsCG
c.1439_1440delinsCG
n.2372_2373delinsCG
c.5311_5312delinsCG (p.Arg1771=)
c.5308_5309delinsCG (p.Arg1770=)
c.5200_5201delinsCG (p.Arg1734=)
c.5179_5180delinsCG (p.Arg1727=)
c.4525_4526delinsCG (p.Arg1509=)
c.5473_5474delinsCG (p.Arg1825=)
c.5221_5222delinsCG (p.Arg1741=)
c.3967_3968delinsCG (p.Arg1323=)
16g.2088324G>ACA054609TSC2c.*3607G>A (n.*3607G>A)
c.5105G>A (p.Arg1702Gln)
c.5255G>A (p.Arg1752Gln)
c.*5771G>A (n.*5771G>A)
c.*8007G>A (n.*8007G>A)
c.5258G>A (p.Arg1753Gln)
c.5189G>A (p.Arg1730Gln)
c.5057G>A (p.Arg1686Gln)
c.5090G>A (p.Arg1697Gln)
c.1481G>A
n.3140G>A
c.3912G>A
c.5117G>A (p.Arg1706Gln)
n.855G>A
c.5060G>A (p.Arg1687Gln)
c.5126G>A (p.Arg1709Gln)
c.5051G>A (p.Arg1684Gln)
n.2906G>A
c.5183G>A (p.Arg1728Gln)
c.5129G>A (p.Arg1710Gln)
c.5144G>A (p.Arg1715Gln)
c.5054G>A (p.Arg1685Gln)
c.5179G>A
n.3342G>A
c.5252G>A (p.Arg1751Gln)
n.4073G>A
n.2510G>A
n.2481G>A
n.2371G>A
c.4913G>A (p.Arg1638Gln)
c.*4425G>A (n.*4425G>A)
c.4949G>A (p.Arg1650Gln)
n.2981G>A
c.1440G>A
n.2373G>A
c.5312G>A (p.Arg1771Gln)
c.5309G>A (p.Arg1770Gln)
c.5201G>A (p.Arg1734Gln)
c.5180G>A (p.Arg1727Gln)
c.4526G>A (p.Arg1509Gln)
c.5474G>A (p.Arg1825Gln)
c.5222G>A (p.Arg1741Gln)
c.3968G>A (p.Arg1323Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2088324G>CCA394314815TSC2c.*3607G>C (n.*3607G>C)
c.5105G>C (p.Arg1702Pro)
c.5255G>C (p.Arg1752Pro)
c.*5771G>C (n.*5771G>C)
c.*8007G>C (n.*8007G>C)
c.5258G>C (p.Arg1753Pro)
c.5189G>C (p.Arg1730Pro)
c.5057G>C (p.Arg1686Pro)
c.5090G>C (p.Arg1697Pro)
c.1481G>C
n.3140G>C
c.3912G>C
c.5117G>C (p.Arg1706Pro)
n.855G>C
c.5060G>C (p.Arg1687Pro)
c.5126G>C (p.Arg1709Pro)
c.5051G>C (p.Arg1684Pro)
n.2906G>C
c.5183G>C (p.Arg1728Pro)
c.5129G>C (p.Arg1710Pro)
c.5144G>C (p.Arg1715Pro)
c.5054G>C (p.Arg1685Pro)
c.5179G>C
n.3342G>C
c.5252G>C (p.Arg1751Pro)
n.4073G>C
n.2510G>C
n.2481G>C
n.2371G>C
c.4913G>C (p.Arg1638Pro)
c.*4425G>C (n.*4425G>C)
c.4949G>C (p.Arg1650Pro)
n.2981G>C
c.1440G>C
n.2373G>C
c.5312G>C (p.Arg1771Pro)
c.5309G>C (p.Arg1770Pro)
c.5201G>C (p.Arg1734Pro)
c.5180G>C (p.Arg1727Pro)
c.4526G>C (p.Arg1509Pro)
c.5474G>C (p.Arg1825Pro)
c.5222G>C (p.Arg1741Pro)
c.3968G>C (p.Arg1323Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2088324G=CA2202032721TSC2c.*3607G= (n.*3607G=)
c.5105G= (p.Arg1702=)
c.5255G= (p.Arg1752=)
c.*5771G= (n.*5771G=)
c.*8007G= (n.*8007G=)
c.5258G= (p.Arg1753=)
c.5189G= (p.Arg1730=)
c.5057G= (p.Arg1686=)
c.5090G= (p.Arg1697=)
c.1481G=
n.3140G=
c.3912G=
c.5117G= (p.Arg1706=)
n.855G=
c.5060G= (p.Arg1687=)
c.5126G= (p.Arg1709=)
c.5051G= (p.Arg1684=)
n.2906G=
c.5183G= (p.Arg1728=)
c.5129G= (p.Arg1710=)
c.5144G= (p.Arg1715=)
c.5054G= (p.Arg1685=)
c.5179G=
n.3342G=
c.5252G= (p.Arg1751=)
n.4073G=
n.2510G=
n.2481G=
n.2371G=
c.4913G= (p.Arg1638=)
c.*4425G= (n.*4425G=)
c.4949G= (p.Arg1650=)
n.2981G=
c.1440G=
n.2373G=
c.5312G= (p.Arg1771=)
c.5309G= (p.Arg1770=)
c.5201G= (p.Arg1734=)
c.5180G= (p.Arg1727=)
c.4526G= (p.Arg1509=)
c.5474G= (p.Arg1825=)
c.5222G= (p.Arg1741=)
c.3968G= (p.Arg1323=)
16g.2088324G>TCA394314819TSC2c.*3607G>T (n.*3607G>T)
c.5105G>T (p.Arg1702Leu)
c.5255G>T (p.Arg1752Leu)
c.*5771G>T (n.*5771G>T)
c.*8007G>T (n.*8007G>T)
c.5258G>T (p.Arg1753Leu)
c.5189G>T (p.Arg1730Leu)
c.5057G>T (p.Arg1686Leu)
c.5090G>T (p.Arg1697Leu)
c.1481G>T
n.3140G>T
c.3912G>T
c.5117G>T (p.Arg1706Leu)
n.855G>T
c.5060G>T (p.Arg1687Leu)
c.5126G>T (p.Arg1709Leu)
c.5051G>T (p.Arg1684Leu)
n.2906G>T
c.5183G>T (p.Arg1728Leu)
c.5129G>T (p.Arg1710Leu)
c.5144G>T (p.Arg1715Leu)
c.5054G>T (p.Arg1685Leu)
c.5179G>T
n.3342G>T
c.5252G>T (p.Arg1751Leu)
n.4073G>T
n.2510G>T
n.2481G>T
n.2371G>T
c.4913G>T (p.Arg1638Leu)
c.*4425G>T (n.*4425G>T)
c.4949G>T (p.Arg1650Leu)
n.2981G>T
c.1440G>T
n.2373G>T
c.5312G>T (p.Arg1771Leu)
c.5309G>T (p.Arg1770Leu)
c.5201G>T (p.Arg1734Leu)
c.5180G>T (p.Arg1727Leu)
c.4526G>T (p.Arg1509Leu)
c.5474G>T (p.Arg1825Leu)
c.5222G>T (p.Arg1741Leu)
c.3968G>T (p.Arg1323Leu)
 dbSNP gnomAD v2 gnomAD v4
16g.2088326delCA022312TSC2c.*3608+1del
c.5106+1del
c.5256+1del
c.*5772+1del
c.*8008+1del
c.5259+1del
c.5190+1del
c.5058+1del
c.5091+1del
c.1482+1del
n.3141+1del
c.3913+1del
c.5118+1del
n.856+1del
c.5061+1del
c.5127+1del
c.5052+1del
n.2907+1del
c.5184+1del
c.5130+1del
c.5145+1del
c.5055+1del
c.5180+1del
n.3343+1del
c.5253+1del
n.4074+1del
n.2511+1del
n.2482+1del
n.2372+1del
c.4914+1del
c.*4426+1del
c.4950+1del
n.2982+1del
c.1441+1del
n.2374+1del
c.5313+1del
c.5310+1del
c.5202+1del
c.5181+1del
c.4527+1del
c.5475+1del
c.5223+1del
c.3969+1del
 ClinVar dbSNP
16g.2088325G>ACA16614799TSC2c.*3608G>A (n.*3608G>A)
c.5106G>A (p.Arg1702=)
c.5256G>A (p.Arg1752=)
c.*5772G>A (n.*5772G>A)
c.*8008G>A (n.*8008G>A)
c.5259G>A (p.Arg1753=)
c.5190G>A (p.Arg1730=)
c.5058G>A (p.Arg1686=)
c.5091G>A (p.Arg1697=)
c.1482G>A
n.3141G>A
c.3913G>A
c.5118G>A (p.Arg1706=)
n.856G>A
c.5061G>A (p.Arg1687=)
c.5127G>A (p.Arg1709=)
c.5052G>A (p.Arg1684=)
n.2907G>A
c.5184G>A (p.Arg1728=)
c.5130G>A (p.Arg1710=)
c.5145G>A (p.Arg1715=)
c.5055G>A (p.Arg1685=)
c.5180G>A
n.3343G>A
c.5253G>A (p.Arg1751=)
n.4074G>A
n.2511G>A
n.2482G>A
n.2372G>A
c.4914G>A (p.Arg1638=)
c.*4426G>A (n.*4426G>A)
c.4950G>A (p.Arg1650=)
n.2982G>A
c.1441G>A
n.2374G>A
c.5313G>A (p.Arg1771=)
c.5310G>A (p.Arg1770=)
c.5202G>A (p.Arg1734=)
c.5181G>A (p.Arg1727=)
c.4527G>A (p.Arg1509=)
c.5475G>A (p.Arg1825=)
c.5223G>A (p.Arg1741=)
c.3969G>A (p.Arg1323=)
 ClinVar dbSNP gnomAD v4
16g.2088325G>CCA493043870TSC2c.*3608G>C (n.*3608G>C)
c.5106G>C (p.Arg1702=)
c.5256G>C (p.Arg1752=)
c.*5772G>C (n.*5772G>C)
c.*8008G>C (n.*8008G>C)
c.5259G>C (p.Arg1753=)
c.5190G>C (p.Arg1730=)
c.5058G>C (p.Arg1686=)
c.5091G>C (p.Arg1697=)
c.1482G>C
n.3141G>C
c.3913G>C
c.5118G>C (p.Arg1706=)
n.856G>C
c.5061G>C (p.Arg1687=)
c.5127G>C (p.Arg1709=)
c.5052G>C (p.Arg1684=)
n.2907G>C
c.5184G>C (p.Arg1728=)
c.5130G>C (p.Arg1710=)
c.5145G>C (p.Arg1715=)
c.5055G>C (p.Arg1685=)
c.5180G>C
n.3343G>C
c.5253G>C (p.Arg1751=)
n.4074G>C
n.2511G>C
n.2482G>C
n.2372G>C
c.4914G>C (p.Arg1638=)
c.*4426G>C (n.*4426G>C)
c.4950G>C (p.Arg1650=)
n.2982G>C
c.1441G>C
n.2374G>C
c.5313G>C (p.Arg1771=)
c.5310G>C (p.Arg1770=)
c.5202G>C (p.Arg1734=)
c.5181G>C (p.Arg1727=)
c.4527G>C (p.Arg1509=)
c.5475G>C (p.Arg1825=)
c.5223G>C (p.Arg1741=)
c.3969G>C (p.Arg1323=)
 ClinVar dbSNP
16g.2088325G=CA2202032726TSC2c.*3608G= (n.*3608G=)
c.5106G= (p.Arg1702=)
c.5256G= (p.Arg1752=)
c.*5772G= (n.*5772G=)
c.*8008G= (n.*8008G=)
c.5259G= (p.Arg1753=)
c.5190G= (p.Arg1730=)
c.5058G= (p.Arg1686=)
c.5091G= (p.Arg1697=)
c.1482G=
n.3141G=
c.3913G=
c.5118G= (p.Arg1706=)
n.856G=
c.5061G= (p.Arg1687=)
c.5127G= (p.Arg1709=)
c.5052G= (p.Arg1684=)
n.2907G=
c.5184G= (p.Arg1728=)
c.5130G= (p.Arg1710=)
c.5145G= (p.Arg1715=)
c.5055G= (p.Arg1685=)
c.5180G=
n.3343G=
c.5253G= (p.Arg1751=)
n.4074G=
n.2511G=
n.2482G=
n.2372G=
c.4914G= (p.Arg1638=)
c.*4426G= (n.*4426G=)
c.4950G= (p.Arg1650=)
n.2982G=
c.1441G=
n.2374G=
c.5313G= (p.Arg1771=)
c.5310G= (p.Arg1770=)
c.5202G= (p.Arg1734=)
c.5181G= (p.Arg1727=)
c.4527G= (p.Arg1509=)
c.5475G= (p.Arg1825=)
c.5223G= (p.Arg1741=)
c.3969G= (p.Arg1323=)
16g.2088325G>TCA493043874TSC2c.*3608G>T (n.*3608G>T)
c.5106G>T (p.Arg1702=)
c.5256G>T (p.Arg1752=)
c.*5772G>T (n.*5772G>T)
c.*8008G>T (n.*8008G>T)
c.5259G>T (p.Arg1753=)
c.5190G>T (p.Arg1730=)
c.5058G>T (p.Arg1686=)
c.5091G>T (p.Arg1697=)
c.1482G>T
n.3141G>T
c.3913G>T
c.5118G>T (p.Arg1706=)
n.856G>T
c.5061G>T (p.Arg1687=)
c.5127G>T (p.Arg1709=)
c.5052G>T (p.Arg1684=)
n.2907G>T
c.5184G>T (p.Arg1728=)
c.5130G>T (p.Arg1710=)
c.5145G>T (p.Arg1715=)
c.5055G>T (p.Arg1685=)
c.5180G>T
n.3343G>T
c.5253G>T (p.Arg1751=)
n.4074G>T
n.2511G>T
n.2482G>T
n.2372G>T
c.4914G>T (p.Arg1638=)
c.*4426G>T (n.*4426G>T)
c.4950G>T (p.Arg1650=)
n.2982G>T
c.1441G>T
n.2374G>T
c.5313G>T (p.Arg1771=)
c.5310G>T (p.Arg1770=)
c.5202G>T (p.Arg1734=)
c.5181G>T (p.Arg1727=)
c.4527G>T (p.Arg1509=)
c.5475G>T (p.Arg1825=)
c.5223G>T (p.Arg1741=)
c.3969G>T (p.Arg1323=)
16g.2088326G>ACA394314826TSC2c.*3608+1G>A (n.*3608+1G>A)
c.5106+1G>A (n.5106+1G>A)
c.5256+1G>A (n.5256+1G>A)
c.*5772+1G>A (n.*5772+1G>A)
c.*8008+1G>A (n.*8008+1G>A)
c.5259+1G>A (n.5259+1G>A)
c.5190+1G>A (n.5190+1G>A)
c.5058+1G>A (n.5058+1G>A)
c.5091+1G>A (n.5091+1G>A)
c.1482+1G>A
n.3141+1G>A
c.3913+1G>A
c.5118+1G>A (n.5118+1G>A)
n.856+1G>A
c.5061+1G>A (n.5061+1G>A)
c.5127+1G>A (n.5127+1G>A)
c.5052+1G>A (n.5052+1G>A)
n.2907+1G>A
c.5184+1G>A (n.5184+1G>A)
c.5130+1G>A (n.5130+1G>A)
c.5145+1G>A (n.5145+1G>A)
c.5055+1G>A (n.5055+1G>A)
c.5180+1G>A
n.3343+1G>A
c.5253+1G>A (n.5253+1G>A)
n.4074+1G>A
n.2511+1G>A
n.2482+1G>A
n.2372+1G>A
c.4914+1G>A (n.4914+1G>A)
c.*4426+1G>A (n.*4426+1G>A)
c.4950+1G>A (n.4950+1G>A)
n.2982+1G>A
c.1441+1G>A
n.2374+1G>A
c.5313+1G>A (n.5313+1G>A)
c.5310+1G>A (n.5310+1G>A)
c.5202+1G>A (n.5202+1G>A)
c.5181+1G>A (n.5181+1G>A)
c.4527+1G>A (n.4527+1G>A)
c.5475+1G>A (n.5475+1G>A)
c.5223+1G>A (n.5223+1G>A)
c.3969+1G>A (n.3969+1G>A)
 ClinVar dbSNP
16g.2088326G>CCA394314820TSC2c.*3608+1G>C (n.*3608+1G>C)
c.5106+1G>C (n.5106+1G>C)
c.5256+1G>C (n.5256+1G>C)
c.*5772+1G>C (n.*5772+1G>C)
c.*8008+1G>C (n.*8008+1G>C)
c.5259+1G>C (n.5259+1G>C)
c.5190+1G>C (n.5190+1G>C)
c.5058+1G>C (n.5058+1G>C)
c.5091+1G>C (n.5091+1G>C)
c.1482+1G>C
n.3141+1G>C
c.3913+1G>C
c.5118+1G>C (n.5118+1G>C)
n.856+1G>C
c.5061+1G>C (n.5061+1G>C)
c.5127+1G>C (n.5127+1G>C)
c.5052+1G>C (n.5052+1G>C)
n.2907+1G>C
c.5184+1G>C (n.5184+1G>C)
c.5130+1G>C (n.5130+1G>C)
c.5145+1G>C (n.5145+1G>C)
c.5055+1G>C (n.5055+1G>C)
c.5180+1G>C
n.3343+1G>C
c.5253+1G>C (n.5253+1G>C)
n.4074+1G>C
n.2511+1G>C
n.2482+1G>C
n.2372+1G>C
c.4914+1G>C (n.4914+1G>C)
c.*4426+1G>C (n.*4426+1G>C)
c.4950+1G>C (n.4950+1G>C)
n.2982+1G>C
c.1441+1G>C
n.2374+1G>C
c.5313+1G>C (n.5313+1G>C)
c.5310+1G>C (n.5310+1G>C)
c.5202+1G>C (n.5202+1G>C)
c.5181+1G>C (n.5181+1G>C)
c.4527+1G>C (n.4527+1G>C)
c.5475+1G>C (n.5475+1G>C)
c.5223+1G>C (n.5223+1G>C)
c.3969+1G>C (n.3969+1G>C)
 dbSNP
16g.2088326G=CA2202032730TSC2c.*3608+1G= (n.*3608+1G=)
c.5106+1G= (n.5106+1G=)
c.5256+1G= (n.5256+1G=)
c.*5772+1G= (n.*5772+1G=)
c.*8008+1G= (n.*8008+1G=)
c.5259+1G= (n.5259+1G=)
c.5190+1G= (n.5190+1G=)
c.5058+1G= (n.5058+1G=)
c.5091+1G= (n.5091+1G=)
c.1482+1G=
n.3141+1G=
c.3913+1G=
c.5118+1G= (n.5118+1G=)
n.856+1G=
c.5061+1G= (n.5061+1G=)
c.5127+1G= (n.5127+1G=)
c.5052+1G= (n.5052+1G=)
n.2907+1G=
c.5184+1G= (n.5184+1G=)
c.5130+1G= (n.5130+1G=)
c.5145+1G= (n.5145+1G=)
c.5055+1G= (n.5055+1G=)
c.5180+1G=
n.3343+1G=
c.5253+1G= (n.5253+1G=)
n.4074+1G=
n.2511+1G=
n.2482+1G=
n.2372+1G=
c.4914+1G= (n.4914+1G=)
c.*4426+1G= (n.*4426+1G=)
c.4950+1G= (n.4950+1G=)
n.2982+1G=
c.1441+1G=
n.2374+1G=
c.5313+1G= (n.5313+1G=)
c.5310+1G= (n.5310+1G=)
c.5202+1G= (n.5202+1G=)
c.5181+1G= (n.5181+1G=)
c.4527+1G= (n.4527+1G=)
c.5475+1G= (n.5475+1G=)
c.5223+1G= (n.5223+1G=)
c.3969+1G= (n.3969+1G=)
16g.2088326G>TCA394314824TSC2c.*3608+1G>T (n.*3608+1G>T)
c.5106+1G>T (n.5106+1G>T)
c.5256+1G>T (n.5256+1G>T)
c.*5772+1G>T (n.*5772+1G>T)
c.*8008+1G>T (n.*8008+1G>T)
c.5259+1G>T (n.5259+1G>T)
c.5190+1G>T (n.5190+1G>T)
c.5058+1G>T (n.5058+1G>T)
c.5091+1G>T (n.5091+1G>T)
c.1482+1G>T
n.3141+1G>T
c.3913+1G>T
c.5118+1G>T (n.5118+1G>T)
n.856+1G>T
c.5061+1G>T (n.5061+1G>T)
c.5127+1G>T (n.5127+1G>T)
c.5052+1G>T (n.5052+1G>T)
n.2907+1G>T
c.5184+1G>T (n.5184+1G>T)
c.5130+1G>T (n.5130+1G>T)
c.5145+1G>T (n.5145+1G>T)
c.5055+1G>T (n.5055+1G>T)
c.5180+1G>T
n.3343+1G>T
c.5253+1G>T (n.5253+1G>T)
n.4074+1G>T
n.2511+1G>T
n.2482+1G>T
n.2372+1G>T
c.4914+1G>T (n.4914+1G>T)
c.*4426+1G>T (n.*4426+1G>T)
c.4950+1G>T (n.4950+1G>T)
n.2982+1G>T
c.1441+1G>T
n.2374+1G>T
c.5313+1G>T (n.5313+1G>T)
c.5310+1G>T (n.5310+1G>T)
c.5202+1G>T (n.5202+1G>T)
c.5181+1G>T (n.5181+1G>T)
c.4527+1G>T (n.4527+1G>T)
c.5475+1G>T (n.5475+1G>T)
c.5223+1G>T (n.5223+1G>T)
c.3969+1G>T (n.3969+1G>T)
16g.2088327T>ACA394314840TSC2c.*3608+2T>A (n.*3608+2T>A)
c.5106+2T>A (n.5106+2T>A)
c.5256+2T>A (n.5256+2T>A)
c.*5772+2T>A (n.*5772+2T>A)
c.*8008+2T>A (n.*8008+2T>A)
c.5259+2T>A (n.5259+2T>A)
c.5190+2T>A (n.5190+2T>A)
c.5058+2T>A (n.5058+2T>A)
c.5091+2T>A (n.5091+2T>A)
c.1482+2T>A
n.3141+2T>A
c.3913+2T>A
c.5118+2T>A (n.5118+2T>A)
n.856+2T>A
c.5061+2T>A (n.5061+2T>A)
c.5127+2T>A (n.5127+2T>A)
c.5052+2T>A (n.5052+2T>A)
n.2907+2T>A
c.5184+2T>A (n.5184+2T>A)
c.5130+2T>A (n.5130+2T>A)
c.5145+2T>A (n.5145+2T>A)
c.5055+2T>A (n.5055+2T>A)
c.5180+2T>A
n.3343+2T>A
c.5253+2T>A (n.5253+2T>A)
n.4074+2T>A
n.2511+2T>A
n.2482+2T>A
n.2372+2T>A
c.4914+2T>A (n.4914+2T>A)
c.*4426+2T>A (n.*4426+2T>A)
c.4950+2T>A (n.4950+2T>A)
n.2982+2T>A
c.1441+2T>A
n.2374+2T>A
c.5313+2T>A (n.5313+2T>A)
c.5310+2T>A (n.5310+2T>A)
c.5202+2T>A (n.5202+2T>A)
c.5181+2T>A (n.5181+2T>A)
c.4527+2T>A (n.4527+2T>A)
c.5475+2T>A (n.5475+2T>A)
c.5223+2T>A (n.5223+2T>A)
c.3969+2T>A (n.3969+2T>A)
 dbSNP
16g.2088327T>CCA394314836TSC2c.*3608+2T>C (n.*3608+2T>C)
c.5106+2T>C (n.5106+2T>C)
c.5256+2T>C (n.5256+2T>C)
c.*5772+2T>C (n.*5772+2T>C)
c.*8008+2T>C (n.*8008+2T>C)
c.5259+2T>C (n.5259+2T>C)
c.5190+2T>C (n.5190+2T>C)
c.5058+2T>C (n.5058+2T>C)
c.5091+2T>C (n.5091+2T>C)
c.1482+2T>C
n.3141+2T>C
c.3913+2T>C
c.5118+2T>C (n.5118+2T>C)
n.856+2T>C
c.5061+2T>C (n.5061+2T>C)
c.5127+2T>C (n.5127+2T>C)
c.5052+2T>C (n.5052+2T>C)
n.2907+2T>C
c.5184+2T>C (n.5184+2T>C)
c.5130+2T>C (n.5130+2T>C)
c.5145+2T>C (n.5145+2T>C)
c.5055+2T>C (n.5055+2T>C)
c.5180+2T>C
n.3343+2T>C
c.5253+2T>C (n.5253+2T>C)
n.4074+2T>C
n.2511+2T>C
n.2482+2T>C
n.2372+2T>C
c.4914+2T>C (n.4914+2T>C)
c.*4426+2T>C (n.*4426+2T>C)
c.4950+2T>C (n.4950+2T>C)
n.2982+2T>C
c.1441+2T>C
n.2374+2T>C
c.5313+2T>C (n.5313+2T>C)
c.5310+2T>C (n.5310+2T>C)
c.5202+2T>C (n.5202+2T>C)
c.5181+2T>C (n.5181+2T>C)
c.4527+2T>C (n.4527+2T>C)
c.5475+2T>C (n.5475+2T>C)
c.5223+2T>C (n.5223+2T>C)
c.3969+2T>C (n.3969+2T>C)
 ClinVar dbSNP gnomAD v4
16g.2088327T>GCA394314832TSC2c.*3608+2T>G (n.*3608+2T>G)
c.5106+2T>G (n.5106+2T>G)
c.5256+2T>G (n.5256+2T>G)
c.*5772+2T>G (n.*5772+2T>G)
c.*8008+2T>G (n.*8008+2T>G)
c.5259+2T>G (n.5259+2T>G)
c.5190+2T>G (n.5190+2T>G)
c.5058+2T>G (n.5058+2T>G)
c.5091+2T>G (n.5091+2T>G)
c.1482+2T>G
n.3141+2T>G
c.3913+2T>G
c.5118+2T>G (n.5118+2T>G)
n.856+2T>G
c.5061+2T>G (n.5061+2T>G)
c.5127+2T>G (n.5127+2T>G)
c.5052+2T>G (n.5052+2T>G)
n.2907+2T>G
c.5184+2T>G (n.5184+2T>G)
c.5130+2T>G (n.5130+2T>G)
c.5145+2T>G (n.5145+2T>G)
c.5055+2T>G (n.5055+2T>G)
c.5180+2T>G
n.3343+2T>G
c.5253+2T>G (n.5253+2T>G)
n.4074+2T>G
n.2511+2T>G
n.2482+2T>G
n.2372+2T>G
c.4914+2T>G (n.4914+2T>G)
c.*4426+2T>G (n.*4426+2T>G)
c.4950+2T>G (n.4950+2T>G)
n.2982+2T>G
c.1441+2T>G
n.2374+2T>G
c.5313+2T>G (n.5313+2T>G)
c.5310+2T>G (n.5310+2T>G)
c.5202+2T>G (n.5202+2T>G)
c.5181+2T>G (n.5181+2T>G)
c.4527+2T>G (n.4527+2T>G)
c.5475+2T>G (n.5475+2T>G)
c.5223+2T>G (n.5223+2T>G)
c.3969+2T>G (n.3969+2T>G)
 ClinVar dbSNP
16g.2088327T=CA2202032738TSC2c.*3608+2T= (n.*3608+2T=)
c.5106+2T= (n.5106+2T=)
c.5256+2T= (n.5256+2T=)
c.*5772+2T= (n.*5772+2T=)
c.*8008+2T= (n.*8008+2T=)
c.5259+2T= (n.5259+2T=)
c.5190+2T= (n.5190+2T=)
c.5058+2T= (n.5058+2T=)
c.5091+2T= (n.5091+2T=)
c.1482+2T=
n.3141+2T=
c.3913+2T=
c.5118+2T= (n.5118+2T=)
n.856+2T=
c.5061+2T= (n.5061+2T=)
c.5127+2T= (n.5127+2T=)
c.5052+2T= (n.5052+2T=)
n.2907+2T=
c.5184+2T= (n.5184+2T=)
c.5130+2T= (n.5130+2T=)
c.5145+2T= (n.5145+2T=)
c.5055+2T= (n.5055+2T=)
c.5180+2T=
n.3343+2T=
c.5253+2T= (n.5253+2T=)
n.4074+2T=
n.2511+2T=
n.2482+2T=
n.2372+2T=
c.4914+2T= (n.4914+2T=)
c.*4426+2T= (n.*4426+2T=)
c.4950+2T= (n.4950+2T=)
n.2982+2T=
c.1441+2T=
n.2374+2T=
c.5313+2T= (n.5313+2T=)
c.5310+2T= (n.5310+2T=)
c.5202+2T= (n.5202+2T=)
c.5181+2T= (n.5181+2T=)
c.4527+2T= (n.4527+2T=)
c.5475+2T= (n.5475+2T=)
c.5223+2T= (n.5223+2T=)
c.3969+2T= (n.3969+2T=)
16g.2088328A=CA2202032741TSC2c.*3608+3A= (n.*3608+3A=)
c.5106+3A= (n.5106+3A=)
c.5256+3A= (n.5256+3A=)
c.*5772+3A= (n.*5772+3A=)
c.*8008+3A= (n.*8008+3A=)
c.5259+3A= (n.5259+3A=)
c.5190+3A= (n.5190+3A=)
c.5058+3A= (n.5058+3A=)
c.5091+3A= (n.5091+3A=)
c.1482+3A=
n.3141+3A=
c.3913+3A=
c.5118+3A= (n.5118+3A=)
n.856+3A=
c.5061+3A= (n.5061+3A=)
c.5127+3A= (n.5127+3A=)
c.5052+3A= (n.5052+3A=)
n.2907+3A=
c.5184+3A= (n.5184+3A=)
c.5130+3A= (n.5130+3A=)
c.5145+3A= (n.5145+3A=)
c.5055+3A= (n.5055+3A=)
c.5180+3A=
n.3343+3A=
c.5253+3A= (n.5253+3A=)
n.4074+3A=
n.2511+3A=
n.2482+3A=
n.2372+3A=
c.4914+3A= (n.4914+3A=)
c.*4426+3A= (n.*4426+3A=)
c.4950+3A= (n.4950+3A=)
n.2982+3A=
c.1441+3A=
n.2374+3A=
c.5313+3A= (n.5313+3A=)
c.5310+3A= (n.5310+3A=)
c.5202+3A= (n.5202+3A=)
c.5181+3A= (n.5181+3A=)
c.4527+3A= (n.4527+3A=)
c.5475+3A= (n.5475+3A=)
c.5223+3A= (n.5223+3A=)
c.3969+3A= (n.3969+3A=)
16g.2088328A>CCA658798500TSC2c.*3608+3A>C (n.*3608+3A>C)
c.5106+3A>C (n.5106+3A>C)
c.5256+3A>C (n.5256+3A>C)
c.*5772+3A>C (n.*5772+3A>C)
c.*8008+3A>C (n.*8008+3A>C)
c.5259+3A>C (n.5259+3A>C)
c.5190+3A>C (n.5190+3A>C)
c.5058+3A>C (n.5058+3A>C)
c.5091+3A>C (n.5091+3A>C)
c.1482+3A>C
n.3141+3A>C
c.3913+3A>C
c.5118+3A>C (n.5118+3A>C)
n.856+3A>C
c.5061+3A>C (n.5061+3A>C)
c.5127+3A>C (n.5127+3A>C)
c.5052+3A>C (n.5052+3A>C)
n.2907+3A>C
c.5184+3A>C (n.5184+3A>C)
c.5130+3A>C (n.5130+3A>C)
c.5145+3A>C (n.5145+3A>C)
c.5055+3A>C (n.5055+3A>C)
c.5180+3A>C
n.3343+3A>C
c.5253+3A>C (n.5253+3A>C)
n.4074+3A>C
n.2511+3A>C
n.2482+3A>C
n.2372+3A>C
c.4914+3A>C (n.4914+3A>C)
c.*4426+3A>C (n.*4426+3A>C)
c.4950+3A>C (n.4950+3A>C)
n.2982+3A>C
c.1441+3A>C
n.2374+3A>C
c.5313+3A>C (n.5313+3A>C)
c.5310+3A>C (n.5310+3A>C)
c.5202+3A>C (n.5202+3A>C)
c.5181+3A>C (n.5181+3A>C)
c.4527+3A>C (n.4527+3A>C)
c.5475+3A>C (n.5475+3A>C)
c.5223+3A>C (n.5223+3A>C)
c.3969+3A>C (n.3969+3A>C)
 ClinVar dbSNP
16g.2088328A>GCA2202032745TSC2c.*3608+3A>G (n.*3608+3A>G)
c.5106+3A>G (n.5106+3A>G)
c.5256+3A>G (n.5256+3A>G)
c.*5772+3A>G (n.*5772+3A>G)
c.*8008+3A>G (n.*8008+3A>G)
c.5259+3A>G (n.5259+3A>G)
c.5190+3A>G (n.5190+3A>G)
c.5058+3A>G (n.5058+3A>G)
c.5091+3A>G (n.5091+3A>G)
c.1482+3A>G
n.3141+3A>G
c.3913+3A>G
c.5118+3A>G (n.5118+3A>G)
n.856+3A>G
c.5061+3A>G (n.5061+3A>G)
c.5127+3A>G (n.5127+3A>G)
c.5052+3A>G (n.5052+3A>G)
n.2907+3A>G
c.5184+3A>G (n.5184+3A>G)
c.5130+3A>G (n.5130+3A>G)
c.5145+3A>G (n.5145+3A>G)
c.5055+3A>G (n.5055+3A>G)
c.5180+3A>G
n.3343+3A>G
c.5253+3A>G (n.5253+3A>G)
n.4074+3A>G
n.2511+3A>G
n.2482+3A>G
n.2372+3A>G
c.4914+3A>G (n.4914+3A>G)
c.*4426+3A>G (n.*4426+3A>G)
c.4950+3A>G (n.4950+3A>G)
n.2982+3A>G
c.1441+3A>G
n.2374+3A>G
c.5313+3A>G (n.5313+3A>G)
c.5310+3A>G (n.5310+3A>G)
c.5202+3A>G (n.5202+3A>G)
c.5181+3A>G (n.5181+3A>G)
c.4527+3A>G (n.4527+3A>G)
c.5475+3A>G (n.5475+3A>G)
c.5223+3A>G (n.5223+3A>G)
c.3969+3A>G (n.3969+3A>G)
 ClinVar dbSNP gnomAD v4
16g.2088329G>ACA916081801TSC2c.*3608+4G>A (n.*3608+4G>A)
c.5106+4G>A (n.5106+4G>A)
c.5256+4G>A (n.5256+4G>A)
c.*5772+4G>A (n.*5772+4G>A)
c.*8008+4G>A (n.*8008+4G>A)
c.5259+4G>A (n.5259+4G>A)
c.5190+4G>A (n.5190+4G>A)
c.5058+4G>A (n.5058+4G>A)
c.5091+4G>A (n.5091+4G>A)
c.1482+4G>A
n.3141+4G>A
c.3913+4G>A
c.5118+4G>A (n.5118+4G>A)
n.856+4G>A
c.5061+4G>A (n.5061+4G>A)
c.5127+4G>A (n.5127+4G>A)
c.5052+4G>A (n.5052+4G>A)
n.2907+4G>A
c.5184+4G>A (n.5184+4G>A)
c.5130+4G>A (n.5130+4G>A)
c.5145+4G>A (n.5145+4G>A)
c.5055+4G>A (n.5055+4G>A)
c.5180+4G>A
n.3343+4G>A
c.5253+4G>A (n.5253+4G>A)
n.4074+4G>A
n.2511+4G>A
n.2482+4G>A
n.2372+4G>A
c.4914+4G>A (n.4914+4G>A)
c.*4426+4G>A (n.*4426+4G>A)
c.4950+4G>A (n.4950+4G>A)
n.2982+4G>A
c.1441+4G>A
n.2374+4G>A
c.5313+4G>A (n.5313+4G>A)
c.5310+4G>A (n.5310+4G>A)
c.5202+4G>A (n.5202+4G>A)
c.5181+4G>A (n.5181+4G>A)
c.4527+4G>A (n.4527+4G>A)
c.5475+4G>A (n.5475+4G>A)
c.5223+4G>A (n.5223+4G>A)
c.3969+4G>A (n.3969+4G>A)
 ClinVar dbSNP gnomAD v4
16g.2088329G=CA2202032749TSC2c.*3608+4G= (n.*3608+4G=)
c.5106+4G= (n.5106+4G=)
c.5256+4G= (n.5256+4G=)
c.*5772+4G= (n.*5772+4G=)
c.*8008+4G= (n.*8008+4G=)
c.5259+4G= (n.5259+4G=)
c.5190+4G= (n.5190+4G=)
c.5058+4G= (n.5058+4G=)
c.5091+4G= (n.5091+4G=)
c.1482+4G=
n.3141+4G=
c.3913+4G=
c.5118+4G= (n.5118+4G=)
n.856+4G=
c.5061+4G= (n.5061+4G=)
c.5127+4G= (n.5127+4G=)
c.5052+4G= (n.5052+4G=)
n.2907+4G=
c.5184+4G= (n.5184+4G=)
c.5130+4G= (n.5130+4G=)
c.5145+4G= (n.5145+4G=)
c.5055+4G= (n.5055+4G=)
c.5180+4G=
n.3343+4G=
c.5253+4G= (n.5253+4G=)
n.4074+4G=
n.2511+4G=
n.2482+4G=
n.2372+4G=
c.4914+4G= (n.4914+4G=)
c.*4426+4G= (n.*4426+4G=)
c.4950+4G= (n.4950+4G=)
n.2982+4G=
c.1441+4G=
n.2374+4G=
c.5313+4G= (n.5313+4G=)
c.5310+4G= (n.5310+4G=)
c.5202+4G= (n.5202+4G=)
c.5181+4G= (n.5181+4G=)
c.4527+4G= (n.4527+4G=)
c.5475+4G= (n.5475+4G=)
c.5223+4G= (n.5223+4G=)
c.3969+4G= (n.3969+4G=)
16g.2088329G>TCA2543805175TSC2c.*3608+4G>T (n.*3608+4G>T)
c.5106+4G>T (n.5106+4G>T)
c.5256+4G>T (n.5256+4G>T)
c.*5772+4G>T (n.*5772+4G>T)
c.*8008+4G>T (n.*8008+4G>T)
c.5259+4G>T (n.5259+4G>T)
c.5190+4G>T (n.5190+4G>T)
c.5058+4G>T (n.5058+4G>T)
c.5091+4G>T (n.5091+4G>T)
c.1482+4G>T
n.3141+4G>T
c.3913+4G>T
c.5118+4G>T (n.5118+4G>T)
n.856+4G>T
c.5061+4G>T (n.5061+4G>T)
c.5127+4G>T (n.5127+4G>T)
c.5052+4G>T (n.5052+4G>T)
n.2907+4G>T
c.5184+4G>T (n.5184+4G>T)
c.5130+4G>T (n.5130+4G>T)
c.5145+4G>T (n.5145+4G>T)
c.5055+4G>T (n.5055+4G>T)
c.5180+4G>T
n.3343+4G>T
c.5253+4G>T (n.5253+4G>T)
n.4074+4G>T
n.2511+4G>T
n.2482+4G>T
n.2372+4G>T
c.4914+4G>T (n.4914+4G>T)
c.*4426+4G>T (n.*4426+4G>T)
c.4950+4G>T (n.4950+4G>T)
n.2982+4G>T
c.1441+4G>T
n.2374+4G>T
c.5313+4G>T (n.5313+4G>T)
c.5310+4G>T (n.5310+4G>T)
c.5202+4G>T (n.5202+4G>T)
c.5181+4G>T (n.5181+4G>T)
c.4527+4G>T (n.4527+4G>T)
c.5475+4G>T (n.5475+4G>T)
c.5223+4G>T (n.5223+4G>T)
c.3969+4G>T (n.3969+4G>T)
 dbSNP
16g.2088330G>ACA2631118866TSC2c.*3608+5G>A (n.*3608+5G>A)
c.5106+5G>A (n.5106+5G>A)
c.5256+5G>A (n.5256+5G>A)
c.*5772+5G>A (n.*5772+5G>A)
c.*8008+5G>A (n.*8008+5G>A)
c.5259+5G>A (n.5259+5G>A)
c.5190+5G>A (n.5190+5G>A)
c.5058+5G>A (n.5058+5G>A)
c.5091+5G>A (n.5091+5G>A)
c.1482+5G>A
n.3141+5G>A
c.3913+5G>A
c.5118+5G>A (n.5118+5G>A)
n.856+5G>A
c.5061+5G>A (n.5061+5G>A)
c.5127+5G>A (n.5127+5G>A)
c.5052+5G>A (n.5052+5G>A)
n.2907+5G>A
c.5184+5G>A (n.5184+5G>A)
c.5130+5G>A (n.5130+5G>A)
c.5145+5G>A (n.5145+5G>A)
c.5055+5G>A (n.5055+5G>A)
c.5180+5G>A
n.3343+5G>A
c.5253+5G>A (n.5253+5G>A)
n.4074+5G>A
n.2511+5G>A
n.2482+5G>A
n.2372+5G>A
c.4914+5G>A (n.4914+5G>A)
c.*4426+5G>A (n.*4426+5G>A)
c.4950+5G>A (n.4950+5G>A)
n.2982+5G>A
c.1441+5G>A
n.2374+5G>A
c.5313+5G>A (n.5313+5G>A)
c.5310+5G>A (n.5310+5G>A)
c.5202+5G>A (n.5202+5G>A)
c.5181+5G>A (n.5181+5G>A)
c.4527+5G>A (n.4527+5G>A)
c.5475+5G>A (n.5475+5G>A)
c.5223+5G>A (n.5223+5G>A)
c.3969+5G>A (n.3969+5G>A)
 ClinVar dbSNP gnomAD v4
16g.2088330G>CCA2731577907TSC2c.*3608+5G>C (n.*3608+5G>C)
c.5106+5G>C (n.5106+5G>C)
c.5256+5G>C (n.5256+5G>C)
c.*5772+5G>C (n.*5772+5G>C)
c.*8008+5G>C (n.*8008+5G>C)
c.5259+5G>C (n.5259+5G>C)
c.5190+5G>C (n.5190+5G>C)
c.5058+5G>C (n.5058+5G>C)
c.5091+5G>C (n.5091+5G>C)
c.1482+5G>C
n.3141+5G>C
c.3913+5G>C
c.5118+5G>C (n.5118+5G>C)
n.856+5G>C
c.5061+5G>C (n.5061+5G>C)
c.5127+5G>C (n.5127+5G>C)
c.5052+5G>C (n.5052+5G>C)
n.2907+5G>C
c.5184+5G>C (n.5184+5G>C)
c.5130+5G>C (n.5130+5G>C)
c.5145+5G>C (n.5145+5G>C)
c.5055+5G>C (n.5055+5G>C)
c.5180+5G>C
n.3343+5G>C
c.5253+5G>C (n.5253+5G>C)
n.4074+5G>C
n.2511+5G>C
n.2482+5G>C
n.2372+5G>C
c.4914+5G>C (n.4914+5G>C)
c.*4426+5G>C (n.*4426+5G>C)
c.4950+5G>C (n.4950+5G>C)
n.2982+5G>C
c.1441+5G>C
n.2374+5G>C
c.5313+5G>C (n.5313+5G>C)
c.5310+5G>C (n.5310+5G>C)
c.5202+5G>C (n.5202+5G>C)
c.5181+5G>C (n.5181+5G>C)
c.4527+5G>C (n.4527+5G>C)
c.5475+5G>C (n.5475+5G>C)
c.5223+5G>C (n.5223+5G>C)
c.3969+5G>C (n.3969+5G>C)
 dbSNP
16g.2088330G=CA2202032752TSC2c.*3608+5G= (n.*3608+5G=)
c.5106+5G= (n.5106+5G=)
c.5256+5G= (n.5256+5G=)
c.*5772+5G= (n.*5772+5G=)
c.*8008+5G= (n.*8008+5G=)
c.5259+5G= (n.5259+5G=)
c.5190+5G= (n.5190+5G=)
c.5058+5G= (n.5058+5G=)
c.5091+5G= (n.5091+5G=)
c.1482+5G=
n.3141+5G=
c.3913+5G=
c.5118+5G= (n.5118+5G=)
n.856+5G=
c.5061+5G= (n.5061+5G=)
c.5127+5G= (n.5127+5G=)
c.5052+5G= (n.5052+5G=)
n.2907+5G=
c.5184+5G= (n.5184+5G=)
c.5130+5G= (n.5130+5G=)
c.5145+5G= (n.5145+5G=)
c.5055+5G= (n.5055+5G=)
c.5180+5G=
n.3343+5G=
c.5253+5G= (n.5253+5G=)
n.4074+5G=
n.2511+5G=
n.2482+5G=
n.2372+5G=
c.4914+5G= (n.4914+5G=)
c.*4426+5G= (n.*4426+5G=)
c.4950+5G= (n.4950+5G=)
n.2982+5G=
c.1441+5G=
n.2374+5G=
c.5313+5G= (n.5313+5G=)
c.5310+5G= (n.5310+5G=)
c.5202+5G= (n.5202+5G=)
c.5181+5G= (n.5181+5G=)
c.4527+5G= (n.4527+5G=)
c.5475+5G= (n.5475+5G=)
c.5223+5G= (n.5223+5G=)
c.3969+5G= (n.3969+5G=)
16g.2088330G>TCA054709TSC2c.*3608+5G>T (n.*3608+5G>T)
c.5106+5G>T (n.5106+5G>T)
c.5256+5G>T (n.5256+5G>T)
c.*5772+5G>T (n.*5772+5G>T)
c.*8008+5G>T (n.*8008+5G>T)
c.5259+5G>T (n.5259+5G>T)
c.5190+5G>T (n.5190+5G>T)
c.5058+5G>T (n.5058+5G>T)
c.5091+5G>T (n.5091+5G>T)
c.1482+5G>T
n.3141+5G>T
c.3913+5G>T
c.5118+5G>T (n.5118+5G>T)
n.856+5G>T
c.5061+5G>T (n.5061+5G>T)
c.5127+5G>T (n.5127+5G>T)
c.5052+5G>T (n.5052+5G>T)
n.2907+5G>T
c.5184+5G>T (n.5184+5G>T)
c.5130+5G>T (n.5130+5G>T)
c.5145+5G>T (n.5145+5G>T)
c.5055+5G>T (n.5055+5G>T)
c.5180+5G>T
n.3343+5G>T
c.5253+5G>T (n.5253+5G>T)
n.4074+5G>T
n.2511+5G>T
n.2482+5G>T
n.2372+5G>T
c.4914+5G>T (n.4914+5G>T)
c.*4426+5G>T (n.*4426+5G>T)
c.4950+5G>T (n.4950+5G>T)
n.2982+5G>T
c.1441+5G>T
n.2374+5G>T
c.5313+5G>T (n.5313+5G>T)
c.5310+5G>T (n.5310+5G>T)
c.5202+5G>T (n.5202+5G>T)
c.5181+5G>T (n.5181+5G>T)
c.4527+5G>T (n.4527+5G>T)
c.5475+5G>T (n.5475+5G>T)
c.5223+5G>T (n.5223+5G>T)
c.3969+5G>T (n.3969+5G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2088331G>ACA658798501TSC2c.*3608+6G>A (n.*3608+6G>A)
c.5106+6G>A (n.5106+6G>A)
c.5256+6G>A (n.5256+6G>A)
c.*5772+6G>A (n.*5772+6G>A)
c.*8008+6G>A (n.*8008+6G>A)
c.5259+6G>A (n.5259+6G>A)
c.5190+6G>A (n.5190+6G>A)
c.5058+6G>A (n.5058+6G>A)
c.5091+6G>A (n.5091+6G>A)
c.1482+6G>A
n.3141+6G>A
c.3913+6G>A
c.5118+6G>A (n.5118+6G>A)
n.856+6G>A
c.5061+6G>A (n.5061+6G>A)
c.5127+6G>A (n.5127+6G>A)
c.5052+6G>A (n.5052+6G>A)
n.2907+6G>A
c.5184+6G>A (n.5184+6G>A)
c.5130+6G>A (n.5130+6G>A)
c.5145+6G>A (n.5145+6G>A)
c.5055+6G>A (n.5055+6G>A)
c.5180+6G>A
n.3343+6G>A
c.5253+6G>A (n.5253+6G>A)
n.4074+6G>A
n.2511+6G>A
n.2482+6G>A
n.2372+6G>A
c.4914+6G>A (n.4914+6G>A)
c.*4426+6G>A (n.*4426+6G>A)
c.4950+6G>A (n.4950+6G>A)
n.2982+6G>A
c.1441+6G>A
n.2374+6G>A
c.5313+6G>A (n.5313+6G>A)
c.5310+6G>A (n.5310+6G>A)
c.5202+6G>A (n.5202+6G>A)
c.5181+6G>A (n.5181+6G>A)
c.4527+6G>A (n.4527+6G>A)
c.5475+6G>A (n.5475+6G>A)
c.5223+6G>A (n.5223+6G>A)
c.3969+6G>A (n.3969+6G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.2088331G>CCA2631118874TSC2c.*3608+6G>C (n.*3608+6G>C)
c.5106+6G>C (n.5106+6G>C)
c.5256+6G>C (n.5256+6G>C)
c.*5772+6G>C (n.*5772+6G>C)
c.*8008+6G>C (n.*8008+6G>C)
c.5259+6G>C (n.5259+6G>C)
c.5190+6G>C (n.5190+6G>C)
c.5058+6G>C (n.5058+6G>C)
c.5091+6G>C (n.5091+6G>C)
c.1482+6G>C
n.3141+6G>C
c.3913+6G>C
c.5118+6G>C (n.5118+6G>C)
n.856+6G>C
c.5061+6G>C (n.5061+6G>C)
c.5127+6G>C (n.5127+6G>C)
c.5052+6G>C (n.5052+6G>C)
n.2907+6G>C
c.5184+6G>C (n.5184+6G>C)
c.5130+6G>C (n.5130+6G>C)
c.5145+6G>C (n.5145+6G>C)
c.5055+6G>C (n.5055+6G>C)
c.5180+6G>C
n.3343+6G>C
c.5253+6G>C (n.5253+6G>C)
n.4074+6G>C
n.2511+6G>C
n.2482+6G>C
n.2372+6G>C
c.4914+6G>C (n.4914+6G>C)
c.*4426+6G>C (n.*4426+6G>C)
c.4950+6G>C (n.4950+6G>C)
n.2982+6G>C
c.1441+6G>C
n.2374+6G>C
c.5313+6G>C (n.5313+6G>C)
c.5310+6G>C (n.5310+6G>C)
c.5202+6G>C (n.5202+6G>C)
c.5181+6G>C (n.5181+6G>C)
c.4527+6G>C (n.4527+6G>C)
c.5475+6G>C (n.5475+6G>C)
c.5223+6G>C (n.5223+6G>C)
c.3969+6G>C (n.3969+6G>C)
 dbSNP gnomAD v4
16g.2088331G=CA2202032755TSC2c.*3608+6G= (n.*3608+6G=)
c.5106+6G= (n.5106+6G=)
c.5256+6G= (n.5256+6G=)
c.*5772+6G= (n.*5772+6G=)
c.*8008+6G= (n.*8008+6G=)
c.5259+6G= (n.5259+6G=)
c.5190+6G= (n.5190+6G=)
c.5058+6G= (n.5058+6G=)
c.5091+6G= (n.5091+6G=)
c.1482+6G=
n.3141+6G=
c.3913+6G=
c.5118+6G= (n.5118+6G=)
n.856+6G=
c.5061+6G= (n.5061+6G=)
c.5127+6G= (n.5127+6G=)
c.5052+6G= (n.5052+6G=)
n.2907+6G=
c.5184+6G= (n.5184+6G=)
c.5130+6G= (n.5130+6G=)
c.5145+6G= (n.5145+6G=)
c.5055+6G= (n.5055+6G=)
c.5180+6G=
n.3343+6G=
c.5253+6G= (n.5253+6G=)
n.4074+6G=
n.2511+6G=
n.2482+6G=
n.2372+6G=
c.4914+6G= (n.4914+6G=)
c.*4426+6G= (n.*4426+6G=)
c.4950+6G= (n.4950+6G=)
n.2982+6G=
c.1441+6G=
n.2374+6G=
c.5313+6G= (n.5313+6G=)
c.5310+6G= (n.5310+6G=)
c.5202+6G= (n.5202+6G=)
c.5181+6G= (n.5181+6G=)
c.4527+6G= (n.4527+6G=)
c.5475+6G= (n.5475+6G=)
c.5223+6G= (n.5223+6G=)
c.3969+6G= (n.3969+6G=)
16g.2088332A=CA2202032763TSC2c.*3608+7A= (n.*3608+7A=)
c.5106+7A= (n.5106+7A=)
c.5256+7A= (n.5256+7A=)
c.*5772+7A= (n.*5772+7A=)
c.*8008+7A= (n.*8008+7A=)
c.5259+7A= (n.5259+7A=)
c.5190+7A= (n.5190+7A=)
c.5058+7A= (n.5058+7A=)
c.5091+7A= (n.5091+7A=)
c.1482+7A=
n.3141+7A=
c.3913+7A=
c.5118+7A= (n.5118+7A=)
n.856+7A=
c.5061+7A= (n.5061+7A=)
c.5127+7A= (n.5127+7A=)
c.5052+7A= (n.5052+7A=)
n.2907+7A=
c.5184+7A= (n.5184+7A=)
c.5130+7A= (n.5130+7A=)
c.5145+7A= (n.5145+7A=)
c.5055+7A= (n.5055+7A=)
c.5180+7A=
n.3343+7A=
c.5253+7A= (n.5253+7A=)
n.4074+7A=
n.2511+7A=
n.2482+7A=
n.2372+7A=
c.4914+7A= (n.4914+7A=)
c.*4426+7A= (n.*4426+7A=)
c.4950+7A= (n.4950+7A=)
n.2982+7A=
c.1441+7A=
n.2374+7A=
c.5313+7A= (n.5313+7A=)
c.5310+7A= (n.5310+7A=)
c.5202+7A= (n.5202+7A=)
c.5181+7A= (n.5181+7A=)
c.4527+7A= (n.4527+7A=)
c.5475+7A= (n.5475+7A=)
c.5223+7A= (n.5223+7A=)
c.3969+7A= (n.3969+7A=)
16g.2088332A>GCA16615201TSC2c.*3608+7A>G (n.*3608+7A>G)
c.5106+7A>G (n.5106+7A>G)
c.5256+7A>G (n.5256+7A>G)
c.*5772+7A>G (n.*5772+7A>G)
c.*8008+7A>G (n.*8008+7A>G)
c.5259+7A>G (n.5259+7A>G)
c.5190+7A>G (n.5190+7A>G)
c.5058+7A>G (n.5058+7A>G)
c.5091+7A>G (n.5091+7A>G)
c.1482+7A>G
n.3141+7A>G
c.3913+7A>G
c.5118+7A>G (n.5118+7A>G)
n.856+7A>G
c.5061+7A>G (n.5061+7A>G)
c.5127+7A>G (n.5127+7A>G)
c.5052+7A>G (n.5052+7A>G)
n.2907+7A>G
c.5184+7A>G (n.5184+7A>G)
c.5130+7A>G (n.5130+7A>G)
c.5145+7A>G (n.5145+7A>G)
c.5055+7A>G (n.5055+7A>G)
c.5180+7A>G
n.3343+7A>G
c.5253+7A>G (n.5253+7A>G)
n.4074+7A>G
n.2511+7A>G
n.2482+7A>G
n.2372+7A>G
c.4914+7A>G (n.4914+7A>G)
c.*4426+7A>G (n.*4426+7A>G)
c.4950+7A>G (n.4950+7A>G)
n.2982+7A>G
c.1441+7A>G
n.2374+7A>G
c.5313+7A>G (n.5313+7A>G)
c.5310+7A>G (n.5310+7A>G)
c.5202+7A>G (n.5202+7A>G)
c.5181+7A>G (n.5181+7A>G)
c.4527+7A>G (n.4527+7A>G)
c.5475+7A>G (n.5475+7A>G)
c.5223+7A>G (n.5223+7A>G)
c.3969+7A>G (n.3969+7A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2088332A>TCA916081802TSC2c.*3608+7A>T (n.*3608+7A>T)
c.5106+7A>T (n.5106+7A>T)
c.5256+7A>T (n.5256+7A>T)
c.*5772+7A>T (n.*5772+7A>T)
c.*8008+7A>T (n.*8008+7A>T)
c.5259+7A>T (n.5259+7A>T)
c.5190+7A>T (n.5190+7A>T)
c.5058+7A>T (n.5058+7A>T)
c.5091+7A>T (n.5091+7A>T)
c.1482+7A>T
n.3141+7A>T
c.3913+7A>T
c.5118+7A>T (n.5118+7A>T)
n.856+7A>T
c.5061+7A>T (n.5061+7A>T)
c.5127+7A>T (n.5127+7A>T)
c.5052+7A>T (n.5052+7A>T)
n.2907+7A>T
c.5184+7A>T (n.5184+7A>T)
c.5130+7A>T (n.5130+7A>T)
c.5145+7A>T (n.5145+7A>T)
c.5055+7A>T (n.5055+7A>T)
c.5180+7A>T
n.3343+7A>T
c.5253+7A>T (n.5253+7A>T)
n.4074+7A>T
n.2511+7A>T
n.2482+7A>T
n.2372+7A>T
c.4914+7A>T (n.4914+7A>T)
c.*4426+7A>T (n.*4426+7A>T)
c.4950+7A>T (n.4950+7A>T)
n.2982+7A>T
c.1441+7A>T
n.2374+7A>T
c.5313+7A>T (n.5313+7A>T)
c.5310+7A>T (n.5310+7A>T)
c.5202+7A>T (n.5202+7A>T)
c.5181+7A>T (n.5181+7A>T)
c.4527+7A>T (n.4527+7A>T)
c.5475+7A>T (n.5475+7A>T)
c.5223+7A>T (n.5223+7A>T)
c.3969+7A>T (n.3969+7A>T)
 ClinVar dbSNP
16g.2088332_2088334delinsAATCA2202032759TSC2c.*3608+7_*3608+9delinsAAT (n.*3608+7_*3608+9delinsAAT)
c.5106+7_5106+9delinsAAT (n.5106+7_5106+9delinsAAT)
c.5256+7_5256+9delinsAAT (n.5256+7_5256+9delinsAAT)
c.*5772+7_*5772+9delinsAAT (n.*5772+7_*5772+9delinsAAT)
c.*8008+7_*8008+9delinsAAT (n.*8008+7_*8008+9delinsAAT)
c.5259+7_5259+9delinsAAT (n.5259+7_5259+9delinsAAT)
c.5190+7_5190+9delinsAAT (n.5190+7_5190+9delinsAAT)
c.5058+7_5058+9delinsAAT (n.5058+7_5058+9delinsAAT)
c.5091+7_5091+9delinsAAT (n.5091+7_5091+9delinsAAT)
c.1482+7_1482+9delinsAAT
n.3141+7_3141+9delinsAAT
c.3913+7_3913+9delinsAAT
c.5118+7_5118+9delinsAAT (n.5118+7_5118+9delinsAAT)
n.856+7_856+9delinsAAT
c.5061+7_5061+9delinsAAT (n.5061+7_5061+9delinsAAT)
c.5127+7_5127+9delinsAAT (n.5127+7_5127+9delinsAAT)
c.5052+7_5052+9delinsAAT (n.5052+7_5052+9delinsAAT)
n.2907+7_2907+9delinsAAT
c.5184+7_5184+9delinsAAT (n.5184+7_5184+9delinsAAT)
c.5130+7_5130+9delinsAAT (n.5130+7_5130+9delinsAAT)
c.5145+7_5145+9delinsAAT (n.5145+7_5145+9delinsAAT)
c.5055+7_5055+9delinsAAT (n.5055+7_5055+9delinsAAT)
c.5180+7_5180+9delinsAAT
n.3343+7_3343+9delinsAAT
c.5253+7_5253+9delinsAAT (n.5253+7_5253+9delinsAAT)
n.4074+7_4074+9delinsAAT
n.2511+7_2511+9delinsAAT
n.2482+7_2482+9delinsAAT
n.2372+7_2372+9delinsAAT
c.4914+7_4914+9delinsAAT (n.4914+7_4914+9delinsAAT)
c.*4426+7_*4426+9delinsAAT (n.*4426+7_*4426+9delinsAAT)
c.4950+7_4950+9delinsAAT (n.4950+7_4950+9delinsAAT)
n.2982+7_2982+9delinsAAT
c.1441+7_1441+9delinsAAT
n.2374+7_2374+9delinsAAT
c.5313+7_5313+9delinsAAT (n.5313+7_5313+9delinsAAT)
c.5310+7_5310+9delinsAAT (n.5310+7_5310+9delinsAAT)
c.5202+7_5202+9delinsAAT (n.5202+7_5202+9delinsAAT)
c.5181+7_5181+9delinsAAT (n.5181+7_5181+9delinsAAT)
c.4527+7_4527+9delinsAAT (n.4527+7_4527+9delinsAAT)
c.5475+7_5475+9delinsAAT (n.5475+7_5475+9delinsAAT)
c.5223+7_5223+9delinsAAT (n.5223+7_5223+9delinsAAT)
c.3969+7_3969+9delinsAAT (n.3969+7_3969+9delinsAAT)
16g.2088333A=CA2202032769TSC2c.*3608+8A= (n.*3608+8A=)
c.5106+8A= (n.5106+8A=)
c.5256+8A= (n.5256+8A=)
c.*5772+8A= (n.*5772+8A=)
c.*8008+8A= (n.*8008+8A=)
c.5259+8A= (n.5259+8A=)
c.5190+8A= (n.5190+8A=)
c.5058+8A= (n.5058+8A=)
c.5091+8A= (n.5091+8A=)
c.1482+8A=
n.3141+8A=
c.3913+8A=
c.5118+8A= (n.5118+8A=)
n.856+8A=
c.5061+8A= (n.5061+8A=)
c.5127+8A= (n.5127+8A=)
c.5052+8A= (n.5052+8A=)
n.2907+8A=
c.5184+8A= (n.5184+8A=)
c.5130+8A= (n.5130+8A=)
c.5145+8A= (n.5145+8A=)
c.5055+8A= (n.5055+8A=)
c.5180+8A=
n.3343+8A=
c.5253+8A= (n.5253+8A=)
n.4074+8A=
n.2511+8A=
n.2482+8A=
n.2372+8A=
c.4914+8A= (n.4914+8A=)
c.*4426+8A= (n.*4426+8A=)
c.4950+8A= (n.4950+8A=)
n.2982+8A=
c.1441+8A=
n.2374+8A=
c.5313+8A= (n.5313+8A=)
c.5310+8A= (n.5310+8A=)
c.5202+8A= (n.5202+8A=)
c.5181+8A= (n.5181+8A=)
c.4527+8A= (n.4527+8A=)
c.5475+8A= (n.5475+8A=)
c.5223+8A= (n.5223+8A=)
c.3969+8A= (n.3969+8A=)
16g.2088333A>CCA276759626TSC2c.*3608+8A>C (n.*3608+8A>C)
c.5106+8A>C (n.5106+8A>C)
c.5256+8A>C (n.5256+8A>C)
c.*5772+8A>C (n.*5772+8A>C)
c.*8008+8A>C (n.*8008+8A>C)
c.5259+8A>C (n.5259+8A>C)
c.5190+8A>C (n.5190+8A>C)
c.5058+8A>C (n.5058+8A>C)
c.5091+8A>C (n.5091+8A>C)
c.1482+8A>C
n.3141+8A>C
c.3913+8A>C
c.5118+8A>C (n.5118+8A>C)
n.856+8A>C
c.5061+8A>C (n.5061+8A>C)
c.5127+8A>C (n.5127+8A>C)
c.5052+8A>C (n.5052+8A>C)
n.2907+8A>C
c.5184+8A>C (n.5184+8A>C)
c.5130+8A>C (n.5130+8A>C)
c.5145+8A>C (n.5145+8A>C)
c.5055+8A>C (n.5055+8A>C)
c.5180+8A>C
n.3343+8A>C
c.5253+8A>C (n.5253+8A>C)
n.4074+8A>C
n.2511+8A>C
n.2482+8A>C
n.2372+8A>C
c.4914+8A>C (n.4914+8A>C)
c.*4426+8A>C (n.*4426+8A>C)
c.4950+8A>C (n.4950+8A>C)
n.2982+8A>C
c.1441+8A>C
n.2374+8A>C
c.5313+8A>C (n.5313+8A>C)
c.5310+8A>C (n.5310+8A>C)
c.5202+8A>C (n.5202+8A>C)
c.5181+8A>C (n.5181+8A>C)
c.4527+8A>C (n.4527+8A>C)
c.5475+8A>C (n.5475+8A>C)
c.5223+8A>C (n.5223+8A>C)
c.3969+8A>C (n.3969+8A>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2088333A>GCA620705070TSC2c.*3608+8A>G (n.*3608+8A>G)
c.5106+8A>G (n.5106+8A>G)
c.5256+8A>G (n.5256+8A>G)
c.*5772+8A>G (n.*5772+8A>G)
c.*8008+8A>G (n.*8008+8A>G)
c.5259+8A>G (n.5259+8A>G)
c.5190+8A>G (n.5190+8A>G)
c.5058+8A>G (n.5058+8A>G)
c.5091+8A>G (n.5091+8A>G)
c.1482+8A>G
n.3141+8A>G
c.3913+8A>G
c.5118+8A>G (n.5118+8A>G)
n.856+8A>G
c.5061+8A>G (n.5061+8A>G)
c.5127+8A>G (n.5127+8A>G)
c.5052+8A>G (n.5052+8A>G)
n.2907+8A>G
c.5184+8A>G (n.5184+8A>G)
c.5130+8A>G (n.5130+8A>G)
c.5145+8A>G (n.5145+8A>G)
c.5055+8A>G (n.5055+8A>G)
c.5180+8A>G
n.3343+8A>G
c.5253+8A>G (n.5253+8A>G)
n.4074+8A>G
n.2511+8A>G
n.2482+8A>G
n.2372+8A>G
c.4914+8A>G (n.4914+8A>G)
c.*4426+8A>G (n.*4426+8A>G)
c.4950+8A>G (n.4950+8A>G)
n.2982+8A>G
c.1441+8A>G
n.2374+8A>G
c.5313+8A>G (n.5313+8A>G)
c.5310+8A>G (n.5310+8A>G)
c.5202+8A>G (n.5202+8A>G)
c.5181+8A>G (n.5181+8A>G)
c.4527+8A>G (n.4527+8A>G)
c.5475+8A>G (n.5475+8A>G)
c.5223+8A>G (n.5223+8A>G)
c.3969+8A>G (n.3969+8A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2088333A>TCA2631118881TSC2c.*3608+8A>T (n.*3608+8A>T)
c.5106+8A>T (n.5106+8A>T)
c.5256+8A>T (n.5256+8A>T)
c.*5772+8A>T (n.*5772+8A>T)
c.*8008+8A>T (n.*8008+8A>T)
c.5259+8A>T (n.5259+8A>T)
c.5190+8A>T (n.5190+8A>T)
c.5058+8A>T (n.5058+8A>T)
c.5091+8A>T (n.5091+8A>T)
c.1482+8A>T
n.3141+8A>T
c.3913+8A>T
c.5118+8A>T (n.5118+8A>T)
n.856+8A>T
c.5061+8A>T (n.5061+8A>T)
c.5127+8A>T (n.5127+8A>T)
c.5052+8A>T (n.5052+8A>T)
n.2907+8A>T
c.5184+8A>T (n.5184+8A>T)
c.5130+8A>T (n.5130+8A>T)
c.5145+8A>T (n.5145+8A>T)
c.5055+8A>T (n.5055+8A>T)
c.5180+8A>T
n.3343+8A>T
c.5253+8A>T (n.5253+8A>T)
n.4074+8A>T
n.2511+8A>T
n.2482+8A>T
n.2372+8A>T
c.4914+8A>T (n.4914+8A>T)
c.*4426+8A>T (n.*4426+8A>T)
c.4950+8A>T (n.4950+8A>T)
n.2982+8A>T
c.1441+8A>T
n.2374+8A>T
c.5313+8A>T (n.5313+8A>T)
c.5310+8A>T (n.5310+8A>T)
c.5202+8A>T (n.5202+8A>T)
c.5181+8A>T (n.5181+8A>T)
c.4527+8A>T (n.4527+8A>T)
c.5475+8A>T (n.5475+8A>T)
c.5223+8A>T (n.5223+8A>T)
c.3969+8A>T (n.3969+8A>T)
 gnomAD v4
16g.2088335_2088336delCA718905355TSC2c.*3608+10_*3608+11del (n.*3608+10_*3608+11del)
c.5106+10_5106+11del (n.5106+10_5106+11del)
c.5256+10_5256+11del (n.5256+10_5256+11del)
c.*5772+10_*5772+11del (n.*5772+10_*5772+11del)
c.*8008+10_*8008+11del (n.*8008+10_*8008+11del)
c.5259+10_5259+11del (n.5259+10_5259+11del)
c.5190+10_5190+11del (n.5190+10_5190+11del)
c.5058+10_5058+11del (n.5058+10_5058+11del)
c.5091+10_5091+11del (n.5091+10_5091+11del)
c.1482+10_1482+11del
n.3141+10_3141+11del
c.3913+10_3913+11del
c.5118+10_5118+11del (n.5118+10_5118+11del)
n.856+10_856+11del
c.5061+10_5061+11del (n.5061+10_5061+11del)
c.5127+10_5127+11del (n.5127+10_5127+11del)
c.5052+10_5052+11del (n.5052+10_5052+11del)
n.2907+10_2907+11del
c.5184+10_5184+11del (n.5184+10_5184+11del)
c.5130+10_5130+11del (n.5130+10_5130+11del)
c.5145+10_5145+11del (n.5145+10_5145+11del)
c.5055+10_5055+11del (n.5055+10_5055+11del)
c.5180+10_5180+11del
n.3343+10_3343+11del
c.5253+10_5253+11del (n.5253+10_5253+11del)
n.4074+10_4074+11del
n.2511+10_2511+11del
n.2482+10_2482+11del
n.2372+10_2372+11del
c.4914+10_4914+11del (n.4914+10_4914+11del)
c.*4426+10_*4426+11del (n.*4426+10_*4426+11del)
c.4950+10_4950+11del (n.4950+10_4950+11del)
n.2982+10_2982+11del
c.1441+10_1441+11del
n.2374+10_2374+11del
c.5313+10_5313+11del (n.5313+10_5313+11del)
c.5310+10_5310+11del (n.5310+10_5310+11del)
c.5202+10_5202+11del (n.5202+10_5202+11del)
c.5181+10_5181+11del (n.5181+10_5181+11del)
c.4527+10_4527+11del (n.4527+10_4527+11del)
c.5475+10_5475+11del (n.5475+10_5475+11del)
c.5223+10_5223+11del (n.5223+10_5223+11del)
c.3969+10_3969+11del (n.3969+10_3969+11del)
 dbSNP
16g.2088334T>ACA2731597818TSC2c.*3608+9T>A (n.*3608+9T>A)
c.5106+9T>A (n.5106+9T>A)
c.5256+9T>A (n.5256+9T>A)
c.*5772+9T>A (n.*5772+9T>A)
c.*8008+9T>A (n.*8008+9T>A)
c.5259+9T>A (n.5259+9T>A)
c.5190+9T>A (n.5190+9T>A)
c.5058+9T>A (n.5058+9T>A)
c.5091+9T>A (n.5091+9T>A)
c.1482+9T>A
n.3141+9T>A
c.3913+9T>A
c.5118+9T>A (n.5118+9T>A)
n.856+9T>A
c.5061+9T>A (n.5061+9T>A)
c.5127+9T>A (n.5127+9T>A)
c.5052+9T>A (n.5052+9T>A)
n.2907+9T>A
c.5184+9T>A (n.5184+9T>A)
c.5130+9T>A (n.5130+9T>A)
c.5145+9T>A (n.5145+9T>A)
c.5055+9T>A (n.5055+9T>A)
c.5180+9T>A
n.3343+9T>A
c.5253+9T>A (n.5253+9T>A)
n.4074+9T>A
n.2511+9T>A
n.2482+9T>A
n.2372+9T>A
c.4914+9T>A (n.4914+9T>A)
c.*4426+9T>A (n.*4426+9T>A)
c.4950+9T>A (n.4950+9T>A)
n.2982+9T>A
c.1441+9T>A
n.2374+9T>A
c.5313+9T>A (n.5313+9T>A)
c.5310+9T>A (n.5310+9T>A)
c.5202+9T>A (n.5202+9T>A)
c.5181+9T>A (n.5181+9T>A)
c.4527+9T>A (n.4527+9T>A)
c.5475+9T>A (n.5475+9T>A)
c.5223+9T>A (n.5223+9T>A)
c.3969+9T>A (n.3969+9T>A)
 dbSNP
16g.2088334T>CCA16606962TSC2c.*3608+9T>C (n.*3608+9T>C)
c.5106+9T>C (n.5106+9T>C)
c.5256+9T>C (n.5256+9T>C)
c.*5772+9T>C (n.*5772+9T>C)
c.*8008+9T>C (n.*8008+9T>C)
c.5259+9T>C (n.5259+9T>C)
c.5190+9T>C (n.5190+9T>C)
c.5058+9T>C (n.5058+9T>C)
c.5091+9T>C (n.5091+9T>C)
c.1482+9T>C
n.3141+9T>C
c.3913+9T>C
c.5118+9T>C (n.5118+9T>C)
n.856+9T>C
c.5061+9T>C (n.5061+9T>C)
c.5127+9T>C (n.5127+9T>C)
c.5052+9T>C (n.5052+9T>C)
n.2907+9T>C
c.5184+9T>C (n.5184+9T>C)
c.5130+9T>C (n.5130+9T>C)
c.5145+9T>C (n.5145+9T>C)
c.5055+9T>C (n.5055+9T>C)
c.5180+9T>C
n.3343+9T>C
c.5253+9T>C (n.5253+9T>C)
n.4074+9T>C
n.2511+9T>C
n.2482+9T>C
n.2372+9T>C
c.4914+9T>C (n.4914+9T>C)
c.*4426+9T>C (n.*4426+9T>C)
c.4950+9T>C (n.4950+9T>C)
n.2982+9T>C
c.1441+9T>C
n.2374+9T>C
c.5313+9T>C (n.5313+9T>C)
c.5310+9T>C (n.5310+9T>C)
c.5202+9T>C (n.5202+9T>C)
c.5181+9T>C (n.5181+9T>C)
c.4527+9T>C (n.4527+9T>C)
c.5475+9T>C (n.5475+9T>C)
c.5223+9T>C (n.5223+9T>C)
c.3969+9T>C (n.3969+9T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2088334T>GCA2731597817TSC2c.*3608+9T>G (n.*3608+9T>G)
c.5106+9T>G (n.5106+9T>G)
c.5256+9T>G (n.5256+9T>G)
c.*5772+9T>G (n.*5772+9T>G)
c.*8008+9T>G (n.*8008+9T>G)
c.5259+9T>G (n.5259+9T>G)
c.5190+9T>G (n.5190+9T>G)
c.5058+9T>G (n.5058+9T>G)
c.5091+9T>G (n.5091+9T>G)
c.1482+9T>G
n.3141+9T>G
c.3913+9T>G
c.5118+9T>G (n.5118+9T>G)
n.856+9T>G
c.5061+9T>G (n.5061+9T>G)
c.5127+9T>G (n.5127+9T>G)
c.5052+9T>G (n.5052+9T>G)
n.2907+9T>G
c.5184+9T>G (n.5184+9T>G)
c.5130+9T>G (n.5130+9T>G)
c.5145+9T>G (n.5145+9T>G)
c.5055+9T>G (n.5055+9T>G)
c.5180+9T>G
n.3343+9T>G
c.5253+9T>G (n.5253+9T>G)
n.4074+9T>G
n.2511+9T>G
n.2482+9T>G
n.2372+9T>G
c.4914+9T>G (n.4914+9T>G)
c.*4426+9T>G (n.*4426+9T>G)
c.4950+9T>G (n.4950+9T>G)
n.2982+9T>G
c.1441+9T>G
n.2374+9T>G
c.5313+9T>G (n.5313+9T>G)
c.5310+9T>G (n.5310+9T>G)
c.5202+9T>G (n.5202+9T>G)
c.5181+9T>G (n.5181+9T>G)
c.4527+9T>G (n.4527+9T>G)
c.5475+9T>G (n.5475+9T>G)
c.5223+9T>G (n.5223+9T>G)
c.3969+9T>G (n.3969+9T>G)
 dbSNP
16g.2088334T=CA2202032777TSC2c.*3608+9T= (n.*3608+9T=)
c.5106+9T= (n.5106+9T=)
c.5256+9T= (n.5256+9T=)
c.*5772+9T= (n.*5772+9T=)
c.*8008+9T= (n.*8008+9T=)
c.5259+9T= (n.5259+9T=)
c.5190+9T= (n.5190+9T=)
c.5058+9T= (n.5058+9T=)
c.5091+9T= (n.5091+9T=)
c.1482+9T=
n.3141+9T=
c.3913+9T=
c.5118+9T= (n.5118+9T=)
n.856+9T=
c.5061+9T= (n.5061+9T=)
c.5127+9T= (n.5127+9T=)
c.5052+9T= (n.5052+9T=)
n.2907+9T=
c.5184+9T= (n.5184+9T=)
c.5130+9T= (n.5130+9T=)
c.5145+9T= (n.5145+9T=)
c.5055+9T= (n.5055+9T=)
c.5180+9T=
n.3343+9T=
c.5253+9T= (n.5253+9T=)
n.4074+9T=
n.2511+9T=
n.2482+9T=
n.2372+9T=
c.4914+9T= (n.4914+9T=)
c.*4426+9T= (n.*4426+9T=)
c.4950+9T= (n.4950+9T=)
n.2982+9T=
c.1441+9T=
n.2374+9T=
c.5313+9T= (n.5313+9T=)
c.5310+9T= (n.5310+9T=)
c.5202+9T= (n.5202+9T=)
c.5181+9T= (n.5181+9T=)
c.4527+9T= (n.4527+9T=)
c.5475+9T= (n.5475+9T=)
c.5223+9T= (n.5223+9T=)
c.3969+9T= (n.3969+9T=)
16g.2088335A=CA2202032781TSC2c.*3608+10A= (n.*3608+10A=)
c.5106+10A= (n.5106+10A=)
c.5256+10A= (n.5256+10A=)
c.*5772+10A= (n.*5772+10A=)
c.*8008+10A= (n.*8008+10A=)
c.5259+10A= (n.5259+10A=)
c.5190+10A= (n.5190+10A=)
c.5058+10A= (n.5058+10A=)
c.5091+10A= (n.5091+10A=)
c.1482+10A=
n.3141+10A=
c.3913+10A=
c.5118+10A= (n.5118+10A=)
n.856+10A=
c.5061+10A= (n.5061+10A=)
c.5127+10A= (n.5127+10A=)
c.5052+10A= (n.5052+10A=)
n.2907+10A=
c.5184+10A= (n.5184+10A=)
c.5130+10A= (n.5130+10A=)
c.5145+10A= (n.5145+10A=)
c.5055+10A= (n.5055+10A=)
c.5180+10A=
n.3343+10A=
c.5253+10A= (n.5253+10A=)
n.4074+10A=
n.2511+10A=
n.2482+10A=
n.2372+10A=
c.4914+10A= (n.4914+10A=)
c.*4426+10A= (n.*4426+10A=)
c.4950+10A= (n.4950+10A=)
n.2982+10A=
c.1441+10A=
n.2374+10A=
c.5313+10A= (n.5313+10A=)
c.5310+10A= (n.5310+10A=)
c.5202+10A= (n.5202+10A=)
c.5181+10A= (n.5181+10A=)
c.4527+10A= (n.4527+10A=)
c.5475+10A= (n.5475+10A=)
c.5223+10A= (n.5223+10A=)
c.3969+10A= (n.3969+10A=)
16g.2088335A>CCA054613TSC2c.*3608+10A>C (n.*3608+10A>C)
c.5106+10A>C (n.5106+10A>C)
c.5256+10A>C (n.5256+10A>C)
c.*5772+10A>C (n.*5772+10A>C)
c.*8008+10A>C (n.*8008+10A>C)
c.5259+10A>C (n.5259+10A>C)
c.5190+10A>C (n.5190+10A>C)
c.5058+10A>C (n.5058+10A>C)
c.5091+10A>C (n.5091+10A>C)
c.1482+10A>C
n.3141+10A>C
c.3913+10A>C
c.5118+10A>C (n.5118+10A>C)
n.856+10A>C
c.5061+10A>C (n.5061+10A>C)
c.5127+10A>C (n.5127+10A>C)
c.5052+10A>C (n.5052+10A>C)
n.2907+10A>C
c.5184+10A>C (n.5184+10A>C)
c.5130+10A>C (n.5130+10A>C)
c.5145+10A>C (n.5145+10A>C)
c.5055+10A>C (n.5055+10A>C)
c.5180+10A>C
n.3343+10A>C
c.5253+10A>C (n.5253+10A>C)
n.4074+10A>C
n.2511+10A>C
n.2482+10A>C
n.2372+10A>C
c.4914+10A>C (n.4914+10A>C)
c.*4426+10A>C (n.*4426+10A>C)
c.4950+10A>C (n.4950+10A>C)
n.2982+10A>C
c.1441+10A>C
n.2374+10A>C
c.5313+10A>C (n.5313+10A>C)
c.5310+10A>C (n.5310+10A>C)
c.5202+10A>C (n.5202+10A>C)
c.5181+10A>C (n.5181+10A>C)
c.4527+10A>C (n.4527+10A>C)
c.5475+10A>C (n.5475+10A>C)
c.5223+10A>C (n.5223+10A>C)
c.3969+10A>C (n.3969+10A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2088335A>GCA2499223357TSC2c.*3608+10A>G (n.*3608+10A>G)
c.5106+10A>G (n.5106+10A>G)
c.5256+10A>G (n.5256+10A>G)
c.*5772+10A>G (n.*5772+10A>G)
c.*8008+10A>G (n.*8008+10A>G)
c.5259+10A>G (n.5259+10A>G)
c.5190+10A>G (n.5190+10A>G)
c.5058+10A>G (n.5058+10A>G)
c.5091+10A>G (n.5091+10A>G)
c.1482+10A>G
n.3141+10A>G
c.3913+10A>G
c.5118+10A>G (n.5118+10A>G)
n.856+10A>G
c.5061+10A>G (n.5061+10A>G)
c.5127+10A>G (n.5127+10A>G)
c.5052+10A>G (n.5052+10A>G)
n.2907+10A>G
c.5184+10A>G (n.5184+10A>G)
c.5130+10A>G (n.5130+10A>G)
c.5145+10A>G (n.5145+10A>G)
c.5055+10A>G (n.5055+10A>G)
c.5180+10A>G
n.3343+10A>G
c.5253+10A>G (n.5253+10A>G)
n.4074+10A>G
n.2511+10A>G
n.2482+10A>G
n.2372+10A>G
c.4914+10A>G (n.4914+10A>G)
c.*4426+10A>G (n.*4426+10A>G)
c.4950+10A>G (n.4950+10A>G)
n.2982+10A>G
c.1441+10A>G
n.2374+10A>G
c.5313+10A>G (n.5313+10A>G)
c.5310+10A>G (n.5310+10A>G)
c.5202+10A>G (n.5202+10A>G)
c.5181+10A>G (n.5181+10A>G)
c.4527+10A>G (n.4527+10A>G)
c.5475+10A>G (n.5475+10A>G)
c.5223+10A>G (n.5223+10A>G)
c.3969+10A>G (n.3969+10A>G)
 ClinVar dbSNP
16g.2088335A>TCA2731570796TSC2c.*3608+10A>T (n.*3608+10A>T)
c.5106+10A>T (n.5106+10A>T)
c.5256+10A>T (n.5256+10A>T)
c.*5772+10A>T (n.*5772+10A>T)
c.*8008+10A>T (n.*8008+10A>T)
c.5259+10A>T (n.5259+10A>T)
c.5190+10A>T (n.5190+10A>T)
c.5058+10A>T (n.5058+10A>T)
c.5091+10A>T (n.5091+10A>T)
c.1482+10A>T
n.3141+10A>T
c.3913+10A>T
c.5118+10A>T (n.5118+10A>T)
n.856+10A>T
c.5061+10A>T (n.5061+10A>T)
c.5127+10A>T (n.5127+10A>T)
c.5052+10A>T (n.5052+10A>T)
n.2907+10A>T
c.5184+10A>T (n.5184+10A>T)
c.5130+10A>T (n.5130+10A>T)
c.5145+10A>T (n.5145+10A>T)
c.5055+10A>T (n.5055+10A>T)
c.5180+10A>T
n.3343+10A>T
c.5253+10A>T (n.5253+10A>T)
n.4074+10A>T
n.2511+10A>T
n.2482+10A>T
n.2372+10A>T
c.4914+10A>T (n.4914+10A>T)
c.*4426+10A>T (n.*4426+10A>T)
c.4950+10A>T (n.4950+10A>T)
n.2982+10A>T
c.1441+10A>T
n.2374+10A>T
c.5313+10A>T (n.5313+10A>T)
c.5310+10A>T (n.5310+10A>T)
c.5202+10A>T (n.5202+10A>T)
c.5181+10A>T (n.5181+10A>T)
c.4527+10A>T (n.4527+10A>T)
c.5475+10A>T (n.5475+10A>T)
c.5223+10A>T (n.5223+10A>T)
c.3969+10A>T (n.3969+10A>T)
 dbSNP
16g.2088336T>CCA2202032788TSC2c.*3608+11T>C (n.*3608+11T>C)
c.5106+11T>C (n.5106+11T>C)
c.5256+11T>C (n.5256+11T>C)
c.*5772+11T>C (n.*5772+11T>C)
c.*8008+11T>C (n.*8008+11T>C)
c.5259+11T>C (n.5259+11T>C)
c.5190+11T>C (n.5190+11T>C)
c.5058+11T>C (n.5058+11T>C)
c.5091+11T>C (n.5091+11T>C)
c.1482+11T>C
n.3141+11T>C
c.3913+11T>C
c.5118+11T>C (n.5118+11T>C)
n.856+11T>C
c.5061+11T>C (n.5061+11T>C)
c.5127+11T>C (n.5127+11T>C)
c.5052+11T>C (n.5052+11T>C)
n.2907+11T>C
c.5184+11T>C (n.5184+11T>C)
c.5130+11T>C (n.5130+11T>C)
c.5145+11T>C (n.5145+11T>C)
c.5055+11T>C (n.5055+11T>C)
c.5180+11T>C
n.3343+11T>C
c.5253+11T>C (n.5253+11T>C)
n.4074+11T>C
n.2511+11T>C
n.2482+11T>C
n.2372+11T>C
c.4914+11T>C (n.4914+11T>C)
c.*4426+11T>C (n.*4426+11T>C)
c.4950+11T>C (n.4950+11T>C)
n.2982+11T>C
c.1441+11T>C
n.2374+11T>C
c.5313+11T>C (n.5313+11T>C)
c.5310+11T>C (n.5310+11T>C)
c.5202+11T>C (n.5202+11T>C)
c.5181+11T>C (n.5181+11T>C)
c.4527+11T>C (n.4527+11T>C)
c.5475+11T>C (n.5475+11T>C)
c.5223+11T>C (n.5223+11T>C)
c.3969+11T>C (n.3969+11T>C)
 ClinVar dbSNP gnomAD v4
16g.2088336T=CA2202032784TSC2c.*3608+11T= (n.*3608+11T=)
c.5106+11T= (n.5106+11T=)
c.5256+11T= (n.5256+11T=)
c.*5772+11T= (n.*5772+11T=)
c.*8008+11T= (n.*8008+11T=)
c.5259+11T= (n.5259+11T=)
c.5190+11T= (n.5190+11T=)
c.5058+11T= (n.5058+11T=)
c.5091+11T= (n.5091+11T=)
c.1482+11T=
n.3141+11T=
c.3913+11T=
c.5118+11T= (n.5118+11T=)
n.856+11T=
c.5061+11T= (n.5061+11T=)
c.5127+11T= (n.5127+11T=)
c.5052+11T= (n.5052+11T=)
n.2907+11T=
c.5184+11T= (n.5184+11T=)
c.5130+11T= (n.5130+11T=)
c.5145+11T= (n.5145+11T=)
c.5055+11T= (n.5055+11T=)
c.5180+11T=
n.3343+11T=
c.5253+11T= (n.5253+11T=)
n.4074+11T=
n.2511+11T=
n.2482+11T=
n.2372+11T=
c.4914+11T= (n.4914+11T=)
c.*4426+11T= (n.*4426+11T=)
c.4950+11T= (n.4950+11T=)
n.2982+11T=
c.1441+11T=
n.2374+11T=
c.5313+11T= (n.5313+11T=)
c.5310+11T= (n.5310+11T=)
c.5202+11T= (n.5202+11T=)
c.5181+11T= (n.5181+11T=)
c.4527+11T= (n.4527+11T=)
c.5475+11T= (n.5475+11T=)
c.5223+11T= (n.5223+11T=)
c.3969+11T= (n.3969+11T=)
16g.2088337G>ACA493043877TSC2c.*3608+12G>A (n.*3608+12G>A)
c.5106+12G>A (n.5106+12G>A)
c.5256+12G>A (n.5256+12G>A)
c.*5772+12G>A (n.*5772+12G>A)
c.*8008+12G>A (n.*8008+12G>A)
c.5259+12G>A (n.5259+12G>A)
c.5190+12G>A (n.5190+12G>A)
c.5058+12G>A (n.5058+12G>A)
c.5091+12G>A (n.5091+12G>A)
c.1482+12G>A
n.3141+12G>A
c.3913+12G>A
c.5118+12G>A (n.5118+12G>A)
n.856+12G>A
c.5061+12G>A (n.5061+12G>A)
c.5127+12G>A (n.5127+12G>A)
c.5052+12G>A (n.5052+12G>A)
n.2907+12G>A
c.5184+12G>A (n.5184+12G>A)
c.5130+12G>A (n.5130+12G>A)
c.5145+12G>A (n.5145+12G>A)
c.5055+12G>A (n.5055+12G>A)
c.5180+12G>A
n.3343+12G>A
c.5253+12G>A (n.5253+12G>A)
n.4074+12G>A
n.2511+12G>A
n.2482+12G>A
n.2372+12G>A
c.4914+12G>A (n.4914+12G>A)
c.*4426+12G>A (n.*4426+12G>A)
c.4950+12G>A (n.4950+12G>A)
n.2982+12G>A
c.1441+12G>A
n.2374+12G>A
c.5313+12G>A (n.5313+12G>A)
c.5310+12G>A (n.5310+12G>A)
c.5202+12G>A (n.5202+12G>A)
c.5181+12G>A (n.5181+12G>A)
c.4527+12G>A (n.4527+12G>A)
c.5475+12G>A (n.5475+12G>A)
c.5223+12G>A (n.5223+12G>A)
c.3969+12G>A (n.3969+12G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2088337G=CA2202032793TSC2c.*3608+12G= (n.*3608+12G=)
c.5106+12G= (n.5106+12G=)
c.5256+12G= (n.5256+12G=)
c.*5772+12G= (n.*5772+12G=)
c.*8008+12G= (n.*8008+12G=)
c.5259+12G= (n.5259+12G=)
c.5190+12G= (n.5190+12G=)
c.5058+12G= (n.5058+12G=)
c.5091+12G= (n.5091+12G=)
c.1482+12G=
n.3141+12G=
c.3913+12G=
c.5118+12G= (n.5118+12G=)
n.856+12G=
c.5061+12G= (n.5061+12G=)
c.5127+12G= (n.5127+12G=)
c.5052+12G= (n.5052+12G=)
n.2907+12G=
c.5184+12G= (n.5184+12G=)
c.5130+12G= (n.5130+12G=)
c.5145+12G= (n.5145+12G=)
c.5055+12G= (n.5055+12G=)
c.5180+12G=
n.3343+12G=
c.5253+12G= (n.5253+12G=)
n.4074+12G=
n.2511+12G=
n.2482+12G=
n.2372+12G=
c.4914+12G= (n.4914+12G=)
c.*4426+12G= (n.*4426+12G=)
c.4950+12G= (n.4950+12G=)
n.2982+12G=
c.1441+12G=
n.2374+12G=
c.5313+12G= (n.5313+12G=)
c.5310+12G= (n.5310+12G=)
c.5202+12G= (n.5202+12G=)
c.5181+12G= (n.5181+12G=)
c.4527+12G= (n.4527+12G=)
c.5475+12G= (n.5475+12G=)
c.5223+12G= (n.5223+12G=)
c.3969+12G= (n.3969+12G=)
16g.2088337G>TCA2575877521TSC2c.*3608+12G>T (n.*3608+12G>T)
c.5106+12G>T (n.5106+12G>T)
c.5256+12G>T (n.5256+12G>T)
c.*5772+12G>T (n.*5772+12G>T)
c.*8008+12G>T (n.*8008+12G>T)
c.5259+12G>T (n.5259+12G>T)
c.5190+12G>T (n.5190+12G>T)
c.5058+12G>T (n.5058+12G>T)
c.5091+12G>T (n.5091+12G>T)
c.1482+12G>T
n.3141+12G>T
c.3913+12G>T
c.5118+12G>T (n.5118+12G>T)
n.856+12G>T
c.5061+12G>T (n.5061+12G>T)
c.5127+12G>T (n.5127+12G>T)
c.5052+12G>T (n.5052+12G>T)
n.2907+12G>T
c.5184+12G>T (n.5184+12G>T)
c.5130+12G>T (n.5130+12G>T)
c.5145+12G>T (n.5145+12G>T)
c.5055+12G>T (n.5055+12G>T)
c.5180+12G>T
n.3343+12G>T
c.5253+12G>T (n.5253+12G>T)
n.4074+12G>T
n.2511+12G>T
n.2482+12G>T
n.2372+12G>T
c.4914+12G>T (n.4914+12G>T)
c.*4426+12G>T (n.*4426+12G>T)
c.4950+12G>T (n.4950+12G>T)
n.2982+12G>T
c.1441+12G>T
n.2374+12G>T
c.5313+12G>T (n.5313+12G>T)
c.5310+12G>T (n.5310+12G>T)
c.5202+12G>T (n.5202+12G>T)
c.5181+12G>T (n.5181+12G>T)
c.4527+12G>T (n.4527+12G>T)
c.5475+12G>T (n.5475+12G>T)
c.5223+12G>T (n.5223+12G>T)
c.3969+12G>T (n.3969+12G>T)
16g.2088340dupCA620705071TSC2c.*3608+15dup (n.*3608+15dup)
c.5106+15dup (n.5106+15dup)
c.5256+15dup (n.5256+15dup)
c.*5772+15dup (n.*5772+15dup)
c.*8008+15dup (n.*8008+15dup)
c.5259+15dup (n.5259+15dup)
c.5190+15dup (n.5190+15dup)
c.5058+15dup (n.5058+15dup)
c.5091+15dup (n.5091+15dup)
c.1482+15dup
n.3141+15dup
c.3913+15dup
c.5118+15dup (n.5118+15dup)
n.856+15dup
c.5061+15dup (n.5061+15dup)
c.5127+15dup (n.5127+15dup)
c.5052+15dup (n.5052+15dup)
n.2907+15dup
c.5184+15dup (n.5184+15dup)
c.5130+15dup (n.5130+15dup)
c.5145+15dup (n.5145+15dup)
c.5055+15dup (n.5055+15dup)
c.5180+15dup
n.3343+15dup
c.5253+15dup (n.5253+15dup)
n.4074+15dup
n.2511+15dup
n.2482+15dup
n.2372+15dup
c.4914+15dup (n.4914+15dup)
c.*4426+15dup (n.*4426+15dup)
c.4950+15dup (n.4950+15dup)
n.2982+15dup
c.1441+15dup
n.2374+15dup
c.5313+15dup (n.5313+15dup)
c.5310+15dup (n.5310+15dup)
c.5202+15dup (n.5202+15dup)
c.5181+15dup (n.5181+15dup)
c.4527+15dup (n.4527+15dup)
c.5475+15dup (n.5475+15dup)
c.5223+15dup (n.5223+15dup)
c.3969+15dup (n.3969+15dup)
 dbSNP gnomAD v2 gnomAD v4
16g.2088338G>ACA054617TSC2c.*3608+13G>A (n.*3608+13G>A)
c.5106+13G>A (n.5106+13G>A)
c.5256+13G>A (n.5256+13G>A)
c.*5772+13G>A (n.*5772+13G>A)
c.*8008+13G>A (n.*8008+13G>A)
c.5259+13G>A (n.5259+13G>A)
c.5190+13G>A (n.5190+13G>A)
c.5058+13G>A (n.5058+13G>A)
c.5091+13G>A (n.5091+13G>A)
c.1482+13G>A
n.3141+13G>A
c.3913+13G>A
c.5118+13G>A (n.5118+13G>A)
n.856+13G>A
c.5061+13G>A (n.5061+13G>A)
c.5127+13G>A (n.5127+13G>A)
c.5052+13G>A (n.5052+13G>A)
n.2907+13G>A
c.5184+13G>A (n.5184+13G>A)
c.5130+13G>A (n.5130+13G>A)
c.5145+13G>A (n.5145+13G>A)
c.5055+13G>A (n.5055+13G>A)
c.5180+13G>A
n.3343+13G>A
c.5253+13G>A (n.5253+13G>A)
n.4074+13G>A
n.2511+13G>A
n.2482+13G>A
n.2372+13G>A
c.4914+13G>A (n.4914+13G>A)
c.*4426+13G>A (n.*4426+13G>A)
c.4950+13G>A (n.4950+13G>A)
n.2982+13G>A
c.1441+13G>A
n.2374+13G>A
c.5313+13G>A (n.5313+13G>A)
c.5310+13G>A (n.5310+13G>A)
c.5202+13G>A (n.5202+13G>A)
c.5181+13G>A (n.5181+13G>A)
c.4527+13G>A (n.4527+13G>A)
c.5475+13G>A (n.5475+13G>A)
c.5223+13G>A (n.5223+13G>A)
c.3969+13G>A (n.3969+13G>A)
 dbSNP ExAC gnomAD v2
16g.2088338G>CCA2731576213TSC2c.*3608+13G>C (n.*3608+13G>C)
c.5106+13G>C (n.5106+13G>C)
c.5256+13G>C (n.5256+13G>C)
c.*5772+13G>C (n.*5772+13G>C)
c.*8008+13G>C (n.*8008+13G>C)
c.5259+13G>C (n.5259+13G>C)
c.5190+13G>C (n.5190+13G>C)
c.5058+13G>C (n.5058+13G>C)
c.5091+13G>C (n.5091+13G>C)
c.1482+13G>C
n.3141+13G>C
c.3913+13G>C
c.5118+13G>C (n.5118+13G>C)
n.856+13G>C
c.5061+13G>C (n.5061+13G>C)
c.5127+13G>C (n.5127+13G>C)
c.5052+13G>C (n.5052+13G>C)
n.2907+13G>C
c.5184+13G>C (n.5184+13G>C)
c.5130+13G>C (n.5130+13G>C)
c.5145+13G>C (n.5145+13G>C)
c.5055+13G>C (n.5055+13G>C)
c.5180+13G>C
n.3343+13G>C
c.5253+13G>C (n.5253+13G>C)
n.4074+13G>C
n.2511+13G>C
n.2482+13G>C
n.2372+13G>C
c.4914+13G>C (n.4914+13G>C)
c.*4426+13G>C (n.*4426+13G>C)
c.4950+13G>C (n.4950+13G>C)
n.2982+13G>C
c.1441+13G>C
n.2374+13G>C
c.5313+13G>C (n.5313+13G>C)
c.5310+13G>C (n.5310+13G>C)
c.5202+13G>C (n.5202+13G>C)
c.5181+13G>C (n.5181+13G>C)
c.4527+13G>C (n.4527+13G>C)
c.5475+13G>C (n.5475+13G>C)
c.5223+13G>C (n.5223+13G>C)
c.3969+13G>C (n.3969+13G>C)
 dbSNP
16g.2088338G=CA2202032800TSC2c.*3608+13G= (n.*3608+13G=)
c.5106+13G= (n.5106+13G=)
c.5256+13G= (n.5256+13G=)
c.*5772+13G= (n.*5772+13G=)
c.*8008+13G= (n.*8008+13G=)
c.5259+13G= (n.5259+13G=)
c.5190+13G= (n.5190+13G=)
c.5058+13G= (n.5058+13G=)
c.5091+13G= (n.5091+13G=)
c.1482+13G=
n.3141+13G=
c.3913+13G=
c.5118+13G= (n.5118+13G=)
n.856+13G=
c.5061+13G= (n.5061+13G=)
c.5127+13G= (n.5127+13G=)
c.5052+13G= (n.5052+13G=)
n.2907+13G=
c.5184+13G= (n.5184+13G=)
c.5130+13G= (n.5130+13G=)
c.5145+13G= (n.5145+13G=)
c.5055+13G= (n.5055+13G=)
c.5180+13G=
n.3343+13G=
c.5253+13G= (n.5253+13G=)
n.4074+13G=
n.2511+13G=
n.2482+13G=
n.2372+13G=
c.4914+13G= (n.4914+13G=)
c.*4426+13G= (n.*4426+13G=)
c.4950+13G= (n.4950+13G=)
n.2982+13G=
c.1441+13G=
n.2374+13G=
c.5313+13G= (n.5313+13G=)
c.5310+13G= (n.5310+13G=)
c.5202+13G= (n.5202+13G=)
c.5181+13G= (n.5181+13G=)
c.4527+13G= (n.4527+13G=)
c.5475+13G= (n.5475+13G=)
c.5223+13G= (n.5223+13G=)
c.3969+13G= (n.3969+13G=)
16g.2088338G>TCA2731576212TSC2c.*3608+13G>T (n.*3608+13G>T)
c.5106+13G>T (n.5106+13G>T)
c.5256+13G>T (n.5256+13G>T)
c.*5772+13G>T (n.*5772+13G>T)
c.*8008+13G>T (n.*8008+13G>T)
c.5259+13G>T (n.5259+13G>T)
c.5190+13G>T (n.5190+13G>T)
c.5058+13G>T (n.5058+13G>T)
c.5091+13G>T (n.5091+13G>T)
c.1482+13G>T
n.3141+13G>T
c.3913+13G>T
c.5118+13G>T (n.5118+13G>T)
n.856+13G>T
c.5061+13G>T (n.5061+13G>T)
c.5127+13G>T (n.5127+13G>T)
c.5052+13G>T (n.5052+13G>T)
n.2907+13G>T
c.5184+13G>T (n.5184+13G>T)
c.5130+13G>T (n.5130+13G>T)
c.5145+13G>T (n.5145+13G>T)
c.5055+13G>T (n.5055+13G>T)
c.5180+13G>T
n.3343+13G>T
c.5253+13G>T (n.5253+13G>T)
n.4074+13G>T
n.2511+13G>T
n.2482+13G>T
n.2372+13G>T
c.4914+13G>T (n.4914+13G>T)
c.*4426+13G>T (n.*4426+13G>T)
c.4950+13G>T (n.4950+13G>T)
n.2982+13G>T
c.1441+13G>T
n.2374+13G>T
c.5313+13G>T (n.5313+13G>T)
c.5310+13G>T (n.5310+13G>T)
c.5202+13G>T (n.5202+13G>T)
c.5181+13G>T (n.5181+13G>T)
c.4527+13G>T (n.4527+13G>T)
c.5475+13G>T (n.5475+13G>T)
c.5223+13G>T (n.5223+13G>T)
c.3969+13G>T (n.3969+13G>T)
 dbSNP
16g.2088339G>ACA2731592632TSC2c.*3608+14G>A (n.*3608+14G>A)
c.5106+14G>A (n.5106+14G>A)
c.5256+14G>A (n.5256+14G>A)
c.*5772+14G>A (n.*5772+14G>A)
c.*8008+14G>A (n.*8008+14G>A)
c.5259+14G>A (n.5259+14G>A)
c.5190+14G>A (n.5190+14G>A)
c.5058+14G>A (n.5058+14G>A)
c.5091+14G>A (n.5091+14G>A)
c.1482+14G>A
n.3141+14G>A
c.3913+14G>A
c.5118+14G>A (n.5118+14G>A)
n.856+14G>A
c.5061+14G>A (n.5061+14G>A)
c.5127+14G>A (n.5127+14G>A)
c.5052+14G>A (n.5052+14G>A)
n.2907+14G>A
c.5184+14G>A (n.5184+14G>A)
c.5130+14G>A (n.5130+14G>A)
c.5145+14G>A (n.5145+14G>A)
c.5055+14G>A (n.5055+14G>A)
c.5180+14G>A
n.3343+14G>A
c.5253+14G>A (n.5253+14G>A)
n.4074+14G>A
n.2511+14G>A
n.2482+14G>A
n.2372+14G>A
c.4914+14G>A (n.4914+14G>A)
c.*4426+14G>A (n.*4426+14G>A)
c.4950+14G>A (n.4950+14G>A)
n.2982+14G>A
c.1441+14G>A
n.2374+14G>A
c.5313+14G>A (n.5313+14G>A)
c.5310+14G>A (n.5310+14G>A)
c.5202+14G>A (n.5202+14G>A)
c.5181+14G>A (n.5181+14G>A)
c.4527+14G>A (n.4527+14G>A)
c.5475+14G>A (n.5475+14G>A)
c.5223+14G>A (n.5223+14G>A)
c.3969+14G>A (n.3969+14G>A)
 dbSNP
16g.2088339G>CCA973770747TSC2c.*3608+14G>C (n.*3608+14G>C)
c.5106+14G>C (n.5106+14G>C)
c.5256+14G>C (n.5256+14G>C)
c.*5772+14G>C (n.*5772+14G>C)
c.*8008+14G>C (n.*8008+14G>C)
c.5259+14G>C (n.5259+14G>C)
c.5190+14G>C (n.5190+14G>C)
c.5058+14G>C (n.5058+14G>C)
c.5091+14G>C (n.5091+14G>C)
c.1482+14G>C
n.3141+14G>C
c.3913+14G>C
c.5118+14G>C (n.5118+14G>C)
n.856+14G>C
c.5061+14G>C (n.5061+14G>C)
c.5127+14G>C (n.5127+14G>C)
c.5052+14G>C (n.5052+14G>C)
n.2907+14G>C
c.5184+14G>C (n.5184+14G>C)
c.5130+14G>C (n.5130+14G>C)
c.5145+14G>C (n.5145+14G>C)
c.5055+14G>C (n.5055+14G>C)
c.5180+14G>C
n.3343+14G>C
c.5253+14G>C (n.5253+14G>C)
n.4074+14G>C
n.2511+14G>C
n.2482+14G>C
n.2372+14G>C
c.4914+14G>C (n.4914+14G>C)
c.*4426+14G>C (n.*4426+14G>C)
c.4950+14G>C (n.4950+14G>C)
n.2982+14G>C
c.1441+14G>C
n.2374+14G>C
c.5313+14G>C (n.5313+14G>C)
c.5310+14G>C (n.5310+14G>C)
c.5202+14G>C (n.5202+14G>C)
c.5181+14G>C (n.5181+14G>C)
c.4527+14G>C (n.4527+14G>C)
c.5475+14G>C (n.5475+14G>C)
c.5223+14G>C (n.5223+14G>C)
c.3969+14G>C (n.3969+14G>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.2088339G=CA2202032808TSC2c.*3608+14G= (n.*3608+14G=)
c.5106+14G= (n.5106+14G=)
c.5256+14G= (n.5256+14G=)
c.*5772+14G= (n.*5772+14G=)
c.*8008+14G= (n.*8008+14G=)
c.5259+14G= (n.5259+14G=)
c.5190+14G= (n.5190+14G=)
c.5058+14G= (n.5058+14G=)
c.5091+14G= (n.5091+14G=)
c.1482+14G=
n.3141+14G=
c.3913+14G=
c.5118+14G= (n.5118+14G=)
n.856+14G=
c.5061+14G= (n.5061+14G=)
c.5127+14G= (n.5127+14G=)
c.5052+14G= (n.5052+14G=)
n.2907+14G=
c.5184+14G= (n.5184+14G=)
c.5130+14G= (n.5130+14G=)
c.5145+14G= (n.5145+14G=)
c.5055+14G= (n.5055+14G=)
c.5180+14G=
n.3343+14G=
c.5253+14G= (n.5253+14G=)
n.4074+14G=
n.2511+14G=
n.2482+14G=
n.2372+14G=
c.4914+14G= (n.4914+14G=)
c.*4426+14G= (n.*4426+14G=)
c.4950+14G= (n.4950+14G=)
n.2982+14G=
c.1441+14G=
n.2374+14G=
c.5313+14G= (n.5313+14G=)
c.5310+14G= (n.5310+14G=)
c.5202+14G= (n.5202+14G=)
c.5181+14G= (n.5181+14G=)
c.4527+14G= (n.4527+14G=)
c.5475+14G= (n.5475+14G=)
c.5223+14G= (n.5223+14G=)
c.3969+14G= (n.3969+14G=)
16g.2088339G>TCA276759668TSC2c.*3608+14G>T (n.*3608+14G>T)
c.5106+14G>T (n.5106+14G>T)
c.5256+14G>T (n.5256+14G>T)
c.*5772+14G>T (n.*5772+14G>T)
c.*8008+14G>T (n.*8008+14G>T)
c.5259+14G>T (n.5259+14G>T)
c.5190+14G>T (n.5190+14G>T)
c.5058+14G>T (n.5058+14G>T)
c.5091+14G>T (n.5091+14G>T)
c.1482+14G>T
n.3141+14G>T
c.3913+14G>T
c.5118+14G>T (n.5118+14G>T)
n.856+14G>T
c.5061+14G>T (n.5061+14G>T)
c.5127+14G>T (n.5127+14G>T)
c.5052+14G>T (n.5052+14G>T)
n.2907+14G>T
c.5184+14G>T (n.5184+14G>T)
c.5130+14G>T (n.5130+14G>T)
c.5145+14G>T (n.5145+14G>T)
c.5055+14G>T (n.5055+14G>T)
c.5180+14G>T
n.3343+14G>T
c.5253+14G>T (n.5253+14G>T)
n.4074+14G>T
n.2511+14G>T
n.2482+14G>T
n.2372+14G>T
c.4914+14G>T (n.4914+14G>T)
c.*4426+14G>T (n.*4426+14G>T)
c.4950+14G>T (n.4950+14G>T)
n.2982+14G>T
c.1441+14G>T
n.2374+14G>T
c.5313+14G>T (n.5313+14G>T)
c.5310+14G>T (n.5310+14G>T)
c.5202+14G>T (n.5202+14G>T)
c.5181+14G>T (n.5181+14G>T)
c.4527+14G>T (n.4527+14G>T)
c.5475+14G>T (n.5475+14G>T)
c.5223+14G>T (n.5223+14G>T)
c.3969+14G>T (n.3969+14G>T)
 dbSNP
16g.2088340G>ACA054621TSC2c.*3608+15G>A (n.*3608+15G>A)
c.5106+15G>A (n.5106+15G>A)
c.5256+15G>A (n.5256+15G>A)
c.*5772+15G>A (n.*5772+15G>A)
c.*8008+15G>A (n.*8008+15G>A)
c.5259+15G>A (n.5259+15G>A)
c.5190+15G>A (n.5190+15G>A)
c.5058+15G>A (n.5058+15G>A)
c.5091+15G>A (n.5091+15G>A)
c.1482+15G>A
n.3141+15G>A
c.3913+15G>A
c.5118+15G>A (n.5118+15G>A)
n.856+15G>A
c.5061+15G>A (n.5061+15G>A)
c.5127+15G>A (n.5127+15G>A)
c.5052+15G>A (n.5052+15G>A)
n.2907+15G>A
c.5184+15G>A (n.5184+15G>A)
c.5130+15G>A (n.5130+15G>A)
c.5145+15G>A (n.5145+15G>A)
c.5055+15G>A (n.5055+15G>A)
c.5180+15G>A
n.3343+15G>A
c.5253+15G>A (n.5253+15G>A)
n.4074+15G>A
n.2511+15G>A
n.2482+15G>A
n.2372+15G>A
c.4914+15G>A (n.4914+15G>A)
c.*4426+15G>A (n.*4426+15G>A)
c.4950+15G>A (n.4950+15G>A)
n.2982+15G>A
c.1441+15G>A
n.2374+15G>A
c.5313+15G>A (n.5313+15G>A)
c.5310+15G>A (n.5310+15G>A)
c.5202+15G>A (n.5202+15G>A)
c.5181+15G>A (n.5181+15G>A)
c.4527+15G>A (n.4527+15G>A)
c.5475+15G>A (n.5475+15G>A)
c.5223+15G>A (n.5223+15G>A)
c.3969+15G>A (n.3969+15G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2088340G>CCA2731571326TSC2c.*3608+15G>C (n.*3608+15G>C)
c.5106+15G>C (n.5106+15G>C)
c.5256+15G>C (n.5256+15G>C)
c.*5772+15G>C (n.*5772+15G>C)
c.*8008+15G>C (n.*8008+15G>C)
c.5259+15G>C (n.5259+15G>C)
c.5190+15G>C (n.5190+15G>C)
c.5058+15G>C (n.5058+15G>C)
c.5091+15G>C (n.5091+15G>C)
c.1482+15G>C
n.3141+15G>C
c.3913+15G>C
c.5118+15G>C (n.5118+15G>C)
n.856+15G>C
c.5061+15G>C (n.5061+15G>C)
c.5127+15G>C (n.5127+15G>C)
c.5052+15G>C (n.5052+15G>C)
n.2907+15G>C
c.5184+15G>C (n.5184+15G>C)
c.5130+15G>C (n.5130+15G>C)
c.5145+15G>C (n.5145+15G>C)
c.5055+15G>C (n.5055+15G>C)
c.5180+15G>C
n.3343+15G>C
c.5253+15G>C (n.5253+15G>C)
n.4074+15G>C
n.2511+15G>C
n.2482+15G>C
n.2372+15G>C
c.4914+15G>C (n.4914+15G>C)
c.*4426+15G>C (n.*4426+15G>C)
c.4950+15G>C (n.4950+15G>C)
n.2982+15G>C
c.1441+15G>C
n.2374+15G>C
c.5313+15G>C (n.5313+15G>C)
c.5310+15G>C (n.5310+15G>C)
c.5202+15G>C (n.5202+15G>C)
c.5181+15G>C (n.5181+15G>C)
c.4527+15G>C (n.4527+15G>C)
c.5475+15G>C (n.5475+15G>C)
c.5223+15G>C (n.5223+15G>C)
c.3969+15G>C (n.3969+15G>C)
 dbSNP
16g.2088340G=CA2202032813TSC2c.*3608+15G= (n.*3608+15G=)
c.5106+15G= (n.5106+15G=)
c.5256+15G= (n.5256+15G=)
c.*5772+15G= (n.*5772+15G=)
c.*8008+15G= (n.*8008+15G=)
c.5259+15G= (n.5259+15G=)
c.5190+15G= (n.5190+15G=)
c.5058+15G= (n.5058+15G=)
c.5091+15G= (n.5091+15G=)
c.1482+15G=
n.3141+15G=
c.3913+15G=
c.5118+15G= (n.5118+15G=)
n.856+15G=
c.5061+15G= (n.5061+15G=)
c.5127+15G= (n.5127+15G=)
c.5052+15G= (n.5052+15G=)
n.2907+15G=
c.5184+15G= (n.5184+15G=)
c.5130+15G= (n.5130+15G=)
c.5145+15G= (n.5145+15G=)
c.5055+15G= (n.5055+15G=)
c.5180+15G=
n.3343+15G=
c.5253+15G= (n.5253+15G=)
n.4074+15G=
n.2511+15G=
n.2482+15G=
n.2372+15G=
c.4914+15G= (n.4914+15G=)
c.*4426+15G= (n.*4426+15G=)
c.4950+15G= (n.4950+15G=)
n.2982+15G=
c.1441+15G=
n.2374+15G=
c.5313+15G= (n.5313+15G=)
c.5310+15G= (n.5310+15G=)
c.5202+15G= (n.5202+15G=)
c.5181+15G= (n.5181+15G=)
c.4527+15G= (n.4527+15G=)
c.5475+15G= (n.5475+15G=)
c.5223+15G= (n.5223+15G=)
c.3969+15G= (n.3969+15G=)
16g.2088341C>ACA2731830800TSC2c.*3608+16C>A (n.*3608+16C>A)
c.5106+16C>A (n.5106+16C>A)
c.5256+16C>A (n.5256+16C>A)
c.*5772+16C>A (n.*5772+16C>A)
c.*8008+16C>A (n.*8008+16C>A)
c.5259+16C>A (n.5259+16C>A)
c.5190+16C>A (n.5190+16C>A)
c.5058+16C>A (n.5058+16C>A)
c.5091+16C>A (n.5091+16C>A)
c.1482+16C>A
n.3141+16C>A
c.3913+16C>A
c.5118+16C>A (n.5118+16C>A)
n.856+16C>A
c.5061+16C>A (n.5061+16C>A)
c.5127+16C>A (n.5127+16C>A)
c.5052+16C>A (n.5052+16C>A)
n.2907+16C>A
c.5184+16C>A (n.5184+16C>A)
c.5130+16C>A (n.5130+16C>A)
c.5145+16C>A (n.5145+16C>A)
c.5055+16C>A (n.5055+16C>A)
c.5180+16C>A
n.3343+16C>A
c.5253+16C>A (n.5253+16C>A)
n.4074+16C>A
n.2511+16C>A
n.2482+16C>A
n.2372+16C>A
c.4914+16C>A (n.4914+16C>A)
c.*4426+16C>A (n.*4426+16C>A)
c.4950+16C>A (n.4950+16C>A)
n.2982+16C>A
c.1441+16C>A
n.2374+16C>A
c.5313+16C>A (n.5313+16C>A)
c.5310+16C>A (n.5310+16C>A)
c.5202+16C>A (n.5202+16C>A)
c.5181+16C>A (n.5181+16C>A)
c.4527+16C>A (n.4527+16C>A)
c.5475+16C>A (n.5475+16C>A)
c.5223+16C>A (n.5223+16C>A)
c.3969+16C>A (n.3969+16C>A)
 ClinVar dbSNP
16g.2088341C>GCA2731831076TSC2c.*3608+16C>G (n.*3608+16C>G)
c.5106+16C>G (n.5106+16C>G)
c.5256+16C>G (n.5256+16C>G)
c.*5772+16C>G (n.*5772+16C>G)
c.*8008+16C>G (n.*8008+16C>G)
c.5259+16C>G (n.5259+16C>G)
c.5190+16C>G (n.5190+16C>G)
c.5058+16C>G (n.5058+16C>G)
c.5091+16C>G (n.5091+16C>G)
c.1482+16C>G
n.3141+16C>G
c.3913+16C>G
c.5118+16C>G (n.5118+16C>G)
n.856+16C>G
c.5061+16C>G (n.5061+16C>G)
c.5127+16C>G (n.5127+16C>G)
c.5052+16C>G (n.5052+16C>G)
n.2907+16C>G
c.5184+16C>G (n.5184+16C>G)
c.5130+16C>G (n.5130+16C>G)
c.5145+16C>G (n.5145+16C>G)
c.5055+16C>G (n.5055+16C>G)
c.5180+16C>G
n.3343+16C>G
c.5253+16C>G (n.5253+16C>G)
n.4074+16C>G
n.2511+16C>G
n.2482+16C>G
n.2372+16C>G
c.4914+16C>G (n.4914+16C>G)
c.*4426+16C>G (n.*4426+16C>G)
c.4950+16C>G (n.4950+16C>G)
n.2982+16C>G
c.1441+16C>G
n.2374+16C>G
c.5313+16C>G (n.5313+16C>G)
c.5310+16C>G (n.5310+16C>G)
c.5202+16C>G (n.5202+16C>G)
c.5181+16C>G (n.5181+16C>G)
c.4527+16C>G (n.4527+16C>G)
c.5475+16C>G (n.5475+16C>G)
c.5223+16C>G (n.5223+16C>G)
c.3969+16C>G (n.3969+16C>G)
 dbSNP
16g.2088341C>TCA2580091171TSC2c.*3608+16C>T (n.*3608+16C>T)
c.5106+16C>T (n.5106+16C>T)
c.5256+16C>T (n.5256+16C>T)
c.*5772+16C>T (n.*5772+16C>T)
c.*8008+16C>T (n.*8008+16C>T)
c.5259+16C>T (n.5259+16C>T)
c.5190+16C>T (n.5190+16C>T)
c.5058+16C>T (n.5058+16C>T)
c.5091+16C>T (n.5091+16C>T)
c.1482+16C>T
n.3141+16C>T
c.3913+16C>T
c.5118+16C>T (n.5118+16C>T)
n.856+16C>T
c.5061+16C>T (n.5061+16C>T)
c.5127+16C>T (n.5127+16C>T)
c.5052+16C>T (n.5052+16C>T)
n.2907+16C>T
c.5184+16C>T (n.5184+16C>T)
c.5130+16C>T (n.5130+16C>T)
c.5145+16C>T (n.5145+16C>T)
c.5055+16C>T (n.5055+16C>T)
c.5180+16C>T
n.3343+16C>T
c.5253+16C>T (n.5253+16C>T)
n.4074+16C>T
n.2511+16C>T
n.2482+16C>T
n.2372+16C>T
c.4914+16C>T (n.4914+16C>T)
c.*4426+16C>T (n.*4426+16C>T)
c.4950+16C>T (n.4950+16C>T)
n.2982+16C>T
c.1441+16C>T
n.2374+16C>T
c.5313+16C>T (n.5313+16C>T)
c.5310+16C>T (n.5310+16C>T)
c.5202+16C>T (n.5202+16C>T)
c.5181+16C>T (n.5181+16C>T)
c.4527+16C>T (n.4527+16C>T)
c.5475+16C>T (n.5475+16C>T)
c.5223+16C>T (n.5223+16C>T)
c.3969+16C>T (n.3969+16C>T)
 ClinVar
16g.2088342T>ACA2731662052TSC2c.*3608+17T>A (n.*3608+17T>A)
c.5106+17T>A (n.5106+17T>A)
c.5256+17T>A (n.5256+17T>A)
c.*5772+17T>A (n.*5772+17T>A)
c.*8008+17T>A (n.*8008+17T>A)
c.5259+17T>A (n.5259+17T>A)
c.5190+17T>A (n.5190+17T>A)
c.5058+17T>A (n.5058+17T>A)
c.5091+17T>A (n.5091+17T>A)
c.1482+17T>A
n.3141+17T>A
c.3913+17T>A
c.5118+17T>A (n.5118+17T>A)
n.856+17T>A
c.5061+17T>A (n.5061+17T>A)
c.5127+17T>A (n.5127+17T>A)
c.5052+17T>A (n.5052+17T>A)
n.2907+17T>A
c.5184+17T>A (n.5184+17T>A)
c.5130+17T>A (n.5130+17T>A)
c.5145+17T>A (n.5145+17T>A)
c.5055+17T>A (n.5055+17T>A)
c.5180+17T>A
n.3343+17T>A
c.5253+17T>A (n.5253+17T>A)
n.4074+17T>A
n.2511+17T>A
n.2482+17T>A
n.2372+17T>A
c.4914+17T>A (n.4914+17T>A)
c.*4426+17T>A (n.*4426+17T>A)
c.4950+17T>A (n.4950+17T>A)
n.2982+17T>A
c.1441+17T>A
n.2374+17T>A
c.5313+17T>A (n.5313+17T>A)
c.5310+17T>A (n.5310+17T>A)
c.5202+17T>A (n.5202+17T>A)
c.5181+17T>A (n.5181+17T>A)
c.4527+17T>A (n.4527+17T>A)
c.5475+17T>A (n.5475+17T>A)
c.5223+17T>A (n.5223+17T>A)
c.3969+17T>A (n.3969+17T>A)
 dbSNP
16g.2088342T>CCA2202032819TSC2c.*3608+17T>C (n.*3608+17T>C)
c.5106+17T>C (n.5106+17T>C)
c.5256+17T>C (n.5256+17T>C)
c.*5772+17T>C (n.*5772+17T>C)
c.*8008+17T>C (n.*8008+17T>C)
c.5259+17T>C (n.5259+17T>C)
c.5190+17T>C (n.5190+17T>C)
c.5058+17T>C (n.5058+17T>C)
c.5091+17T>C (n.5091+17T>C)
c.1482+17T>C
n.3141+17T>C
c.3913+17T>C
c.5118+17T>C (n.5118+17T>C)
n.856+17T>C
c.5061+17T>C (n.5061+17T>C)
c.5127+17T>C (n.5127+17T>C)
c.5052+17T>C (n.5052+17T>C)
n.2907+17T>C
c.5184+17T>C (n.5184+17T>C)
c.5130+17T>C (n.5130+17T>C)
c.5145+17T>C (n.5145+17T>C)
c.5055+17T>C (n.5055+17T>C)
c.5180+17T>C
n.3343+17T>C
c.5253+17T>C (n.5253+17T>C)
n.4074+17T>C
n.2511+17T>C
n.2482+17T>C
n.2372+17T>C
c.4914+17T>C (n.4914+17T>C)
c.*4426+17T>C (n.*4426+17T>C)
c.4950+17T>C (n.4950+17T>C)
n.2982+17T>C
c.1441+17T>C
n.2374+17T>C
c.5313+17T>C (n.5313+17T>C)
c.5310+17T>C (n.5310+17T>C)
c.5202+17T>C (n.5202+17T>C)
c.5181+17T>C (n.5181+17T>C)
c.4527+17T>C (n.4527+17T>C)
c.5475+17T>C (n.5475+17T>C)
c.5223+17T>C (n.5223+17T>C)
c.3969+17T>C (n.3969+17T>C)
 ClinVar dbSNP
16g.2088342T=CA2202032818TSC2c.*3608+17T= (n.*3608+17T=)
c.5106+17T= (n.5106+17T=)
c.5256+17T= (n.5256+17T=)
c.*5772+17T= (n.*5772+17T=)
c.*8008+17T= (n.*8008+17T=)
c.5259+17T= (n.5259+17T=)
c.5190+17T= (n.5190+17T=)
c.5058+17T= (n.5058+17T=)
c.5091+17T= (n.5091+17T=)
c.1482+17T=
n.3141+17T=
c.3913+17T=
c.5118+17T= (n.5118+17T=)
n.856+17T=
c.5061+17T= (n.5061+17T=)
c.5127+17T= (n.5127+17T=)
c.5052+17T= (n.5052+17T=)
n.2907+17T=
c.5184+17T= (n.5184+17T=)
c.5130+17T= (n.5130+17T=)
c.5145+17T= (n.5145+17T=)
c.5055+17T= (n.5055+17T=)
c.5180+17T=
n.3343+17T=
c.5253+17T= (n.5253+17T=)
n.4074+17T=
n.2511+17T=
n.2482+17T=
n.2372+17T=
c.4914+17T= (n.4914+17T=)
c.*4426+17T= (n.*4426+17T=)
c.4950+17T= (n.4950+17T=)
n.2982+17T=
c.1441+17T=
n.2374+17T=
c.5313+17T= (n.5313+17T=)
c.5310+17T= (n.5310+17T=)
c.5202+17T= (n.5202+17T=)
c.5181+17T= (n.5181+17T=)
c.4527+17T= (n.4527+17T=)
c.5475+17T= (n.5475+17T=)
c.5223+17T= (n.5223+17T=)
c.3969+17T= (n.3969+17T=)
16g.2088343C>ACA2731624657TSC2c.*3608+18C>A (n.*3608+18C>A)
c.5106+18C>A (n.5106+18C>A)
c.5256+18C>A (n.5256+18C>A)
c.*5772+18C>A (n.*5772+18C>A)
c.*8008+18C>A (n.*8008+18C>A)
c.5259+18C>A (n.5259+18C>A)
c.5190+18C>A (n.5190+18C>A)
c.5058+18C>A (n.5058+18C>A)
c.5091+18C>A (n.5091+18C>A)
c.1482+18C>A
n.3141+18C>A
c.3913+18C>A
c.5118+18C>A (n.5118+18C>A)
n.856+18C>A
c.5061+18C>A (n.5061+18C>A)
c.5127+18C>A (n.5127+18C>A)
c.5052+18C>A (n.5052+18C>A)
n.2907+18C>A
c.5184+18C>A (n.5184+18C>A)
c.5130+18C>A (n.5130+18C>A)
c.5145+18C>A (n.5145+18C>A)
c.5055+18C>A (n.5055+18C>A)
c.5180+18C>A
n.3343+18C>A
c.5253+18C>A (n.5253+18C>A)
n.4074+18C>A
n.2511+18C>A
n.2482+18C>A
n.2372+18C>A
c.4914+18C>A (n.4914+18C>A)
c.*4426+18C>A (n.*4426+18C>A)
c.4950+18C>A (n.4950+18C>A)
n.2982+18C>A
c.1441+18C>A
n.2374+18C>A
c.5313+18C>A (n.5313+18C>A)
c.5310+18C>A (n.5310+18C>A)
c.5202+18C>A (n.5202+18C>A)
c.5181+18C>A (n.5181+18C>A)
c.4527+18C>A (n.4527+18C>A)
c.5475+18C>A (n.5475+18C>A)
c.5223+18C>A (n.5223+18C>A)
c.3969+18C>A (n.3969+18C>A)
 dbSNP
16g.2088343C=CA2202032821TSC2c.*3608+18C= (n.*3608+18C=)
c.5106+18C= (n.5106+18C=)
c.5256+18C= (n.5256+18C=)
c.*5772+18C= (n.*5772+18C=)
c.*8008+18C= (n.*8008+18C=)
c.5259+18C= (n.5259+18C=)
c.5190+18C= (n.5190+18C=)
c.5058+18C= (n.5058+18C=)
c.5091+18C= (n.5091+18C=)
c.1482+18C=
n.3141+18C=
c.3913+18C=
c.5118+18C= (n.5118+18C=)
n.856+18C=
c.5061+18C= (n.5061+18C=)
c.5127+18C= (n.5127+18C=)
c.5052+18C= (n.5052+18C=)
n.2907+18C=
c.5184+18C= (n.5184+18C=)
c.5130+18C= (n.5130+18C=)
c.5145+18C= (n.5145+18C=)
c.5055+18C= (n.5055+18C=)
c.5180+18C=
n.3343+18C=
c.5253+18C= (n.5253+18C=)
n.4074+18C=
n.2511+18C=
n.2482+18C=
n.2372+18C=
c.4914+18C= (n.4914+18C=)
c.*4426+18C= (n.*4426+18C=)
c.4950+18C= (n.4950+18C=)
n.2982+18C=
c.1441+18C=
n.2374+18C=
c.5313+18C= (n.5313+18C=)
c.5310+18C= (n.5310+18C=)
c.5202+18C= (n.5202+18C=)
c.5181+18C= (n.5181+18C=)
c.4527+18C= (n.4527+18C=)
c.5475+18C= (n.5475+18C=)
c.5223+18C= (n.5223+18C=)
c.3969+18C= (n.3969+18C=)
16g.2088343C>GCA2580091172TSC2c.*3608+18C>G (n.*3608+18C>G)
c.5106+18C>G (n.5106+18C>G)
c.5256+18C>G (n.5256+18C>G)
c.*5772+18C>G (n.*5772+18C>G)
c.*8008+18C>G (n.*8008+18C>G)
c.5259+18C>G (n.5259+18C>G)
c.5190+18C>G (n.5190+18C>G)
c.5058+18C>G (n.5058+18C>G)
c.5091+18C>G (n.5091+18C>G)
c.1482+18C>G
n.3141+18C>G
c.3913+18C>G
c.5118+18C>G (n.5118+18C>G)
n.856+18C>G
c.5061+18C>G (n.5061+18C>G)
c.5127+18C>G (n.5127+18C>G)
c.5052+18C>G (n.5052+18C>G)
n.2907+18C>G
c.5184+18C>G (n.5184+18C>G)
c.5130+18C>G (n.5130+18C>G)
c.5145+18C>G (n.5145+18C>G)
c.5055+18C>G (n.5055+18C>G)
c.5180+18C>G
n.3343+18C>G
c.5253+18C>G (n.5253+18C>G)
n.4074+18C>G
n.2511+18C>G
n.2482+18C>G
n.2372+18C>G
c.4914+18C>G (n.4914+18C>G)
c.*4426+18C>G (n.*4426+18C>G)
c.4950+18C>G (n.4950+18C>G)
n.2982+18C>G
c.1441+18C>G
n.2374+18C>G
c.5313+18C>G (n.5313+18C>G)
c.5310+18C>G (n.5310+18C>G)
c.5202+18C>G (n.5202+18C>G)
c.5181+18C>G (n.5181+18C>G)
c.4527+18C>G (n.4527+18C>G)
c.5475+18C>G (n.5475+18C>G)
c.5223+18C>G (n.5223+18C>G)
c.3969+18C>G (n.3969+18C>G)
 ClinVar dbSNP gnomAD v4
16g.2088343C>TCA620705072TSC2c.*3608+18C>T (n.*3608+18C>T)
c.5106+18C>T (n.5106+18C>T)
c.5256+18C>T (n.5256+18C>T)
c.*5772+18C>T (n.*5772+18C>T)
c.*8008+18C>T (n.*8008+18C>T)
c.5259+18C>T (n.5259+18C>T)
c.5190+18C>T (n.5190+18C>T)
c.5058+18C>T (n.5058+18C>T)
c.5091+18C>T (n.5091+18C>T)
c.1482+18C>T
n.3141+18C>T
c.3913+18C>T
c.5118+18C>T (n.5118+18C>T)
n.856+18C>T
c.5061+18C>T (n.5061+18C>T)
c.5127+18C>T (n.5127+18C>T)
c.5052+18C>T (n.5052+18C>T)
n.2907+18C>T
c.5184+18C>T (n.5184+18C>T)
c.5130+18C>T (n.5130+18C>T)
c.5145+18C>T (n.5145+18C>T)
c.5055+18C>T (n.5055+18C>T)
c.5180+18C>T
n.3343+18C>T
c.5253+18C>T (n.5253+18C>T)
n.4074+18C>T
n.2511+18C>T
n.2482+18C>T
n.2372+18C>T
c.4914+18C>T (n.4914+18C>T)
c.*4426+18C>T (n.*4426+18C>T)
c.4950+18C>T (n.4950+18C>T)
n.2982+18C>T
c.1441+18C>T
n.2374+18C>T
c.5313+18C>T (n.5313+18C>T)
c.5310+18C>T (n.5310+18C>T)
c.5202+18C>T (n.5202+18C>T)
c.5181+18C>T (n.5181+18C>T)
c.4527+18C>T (n.4527+18C>T)
c.5475+18C>T (n.5475+18C>T)
c.5223+18C>T (n.5223+18C>T)
c.3969+18C>T (n.3969+18C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2088344C>ACA2731576779TSC2c.*3608+19C>A (n.*3608+19C>A)
c.5106+19C>A (n.5106+19C>A)
c.5256+19C>A (n.5256+19C>A)
c.*5772+19C>A (n.*5772+19C>A)
c.*8008+19C>A (n.*8008+19C>A)
c.5259+19C>A (n.5259+19C>A)
c.5190+19C>A (n.5190+19C>A)
c.5058+19C>A (n.5058+19C>A)
c.5091+19C>A (n.5091+19C>A)
c.1482+19C>A
n.3141+19C>A
c.3913+19C>A
c.5118+19C>A (n.5118+19C>A)
n.856+19C>A
c.5061+19C>A (n.5061+19C>A)
c.5127+19C>A (n.5127+19C>A)
c.5052+19C>A (n.5052+19C>A)
n.2907+19C>A
c.5184+19C>A (n.5184+19C>A)
c.5130+19C>A (n.5130+19C>A)
c.5145+19C>A (n.5145+19C>A)
c.5055+19C>A (n.5055+19C>A)
c.5180+19C>A
n.3343+19C>A
c.5253+19C>A (n.5253+19C>A)
n.4074+19C>A
n.2511+19C>A
n.2482+19C>A
n.2372+19C>A
c.4914+19C>A (n.4914+19C>A)
c.*4426+19C>A (n.*4426+19C>A)
c.4950+19C>A (n.4950+19C>A)
n.2982+19C>A
c.1441+19C>A
n.2374+19C>A
c.5313+19C>A (n.5313+19C>A)
c.5310+19C>A (n.5310+19C>A)
c.5202+19C>A (n.5202+19C>A)
c.5181+19C>A (n.5181+19C>A)
c.4527+19C>A (n.4527+19C>A)
c.5475+19C>A (n.5475+19C>A)
c.5223+19C>A (n.5223+19C>A)
c.3969+19C>A (n.3969+19C>A)
 dbSNP
16g.2088344C=CA2202032825TSC2c.*3608+19C= (n.*3608+19C=)
c.5106+19C= (n.5106+19C=)
c.5256+19C= (n.5256+19C=)
c.*5772+19C= (n.*5772+19C=)
c.*8008+19C= (n.*8008+19C=)
c.5259+19C= (n.5259+19C=)
c.5190+19C= (n.5190+19C=)
c.5058+19C= (n.5058+19C=)
c.5091+19C= (n.5091+19C=)
c.1482+19C=
n.3141+19C=
c.3913+19C=
c.5118+19C= (n.5118+19C=)
n.856+19C=
c.5061+19C= (n.5061+19C=)
c.5127+19C= (n.5127+19C=)
c.5052+19C= (n.5052+19C=)
n.2907+19C=
c.5184+19C= (n.5184+19C=)
c.5130+19C= (n.5130+19C=)
c.5145+19C= (n.5145+19C=)
c.5055+19C= (n.5055+19C=)
c.5180+19C=
n.3343+19C=
c.5253+19C= (n.5253+19C=)
n.4074+19C=
n.2511+19C=
n.2482+19C=
n.2372+19C=
c.4914+19C= (n.4914+19C=)
c.*4426+19C= (n.*4426+19C=)
c.4950+19C= (n.4950+19C=)
n.2982+19C=
c.1441+19C=
n.2374+19C=
c.5313+19C= (n.5313+19C=)
c.5310+19C= (n.5310+19C=)
c.5202+19C= (n.5202+19C=)
c.5181+19C= (n.5181+19C=)
c.4527+19C= (n.4527+19C=)
c.5475+19C= (n.5475+19C=)
c.5223+19C= (n.5223+19C=)
c.3969+19C= (n.3969+19C=)
16g.2088344C>GCA2731576780TSC2c.*3608+19C>G (n.*3608+19C>G)
c.5106+19C>G (n.5106+19C>G)
c.5256+19C>G (n.5256+19C>G)
c.*5772+19C>G (n.*5772+19C>G)
c.*8008+19C>G (n.*8008+19C>G)
c.5259+19C>G (n.5259+19C>G)
c.5190+19C>G (n.5190+19C>G)
c.5058+19C>G (n.5058+19C>G)
c.5091+19C>G (n.5091+19C>G)
c.1482+19C>G
n.3141+19C>G
c.3913+19C>G
c.5118+19C>G (n.5118+19C>G)
n.856+19C>G
c.5061+19C>G (n.5061+19C>G)
c.5127+19C>G (n.5127+19C>G)
c.5052+19C>G (n.5052+19C>G)
n.2907+19C>G
c.5184+19C>G (n.5184+19C>G)
c.5130+19C>G (n.5130+19C>G)
c.5145+19C>G (n.5145+19C>G)
c.5055+19C>G (n.5055+19C>G)
c.5180+19C>G
n.3343+19C>G
c.5253+19C>G (n.5253+19C>G)
n.4074+19C>G
n.2511+19C>G
n.2482+19C>G
n.2372+19C>G
c.4914+19C>G (n.4914+19C>G)
c.*4426+19C>G (n.*4426+19C>G)
c.4950+19C>G (n.4950+19C>G)
n.2982+19C>G
c.1441+19C>G
n.2374+19C>G
c.5313+19C>G (n.5313+19C>G)
c.5310+19C>G (n.5310+19C>G)
c.5202+19C>G (n.5202+19C>G)
c.5181+19C>G (n.5181+19C>G)
c.4527+19C>G (n.4527+19C>G)
c.5475+19C>G (n.5475+19C>G)
c.5223+19C>G (n.5223+19C>G)
c.3969+19C>G (n.3969+19C>G)
 dbSNP
16g.2088344C>TCA054625TSC2c.*3608+19C>T (n.*3608+19C>T)
c.5106+19C>T (n.5106+19C>T)
c.5256+19C>T (n.5256+19C>T)
c.*5772+19C>T (n.*5772+19C>T)
c.*8008+19C>T (n.*8008+19C>T)
c.5259+19C>T (n.5259+19C>T)
c.5190+19C>T (n.5190+19C>T)
c.5058+19C>T (n.5058+19C>T)
c.5091+19C>T (n.5091+19C>T)
c.1482+19C>T
n.3141+19C>T
c.3913+19C>T
c.5118+19C>T (n.5118+19C>T)
n.856+19C>T
c.5061+19C>T (n.5061+19C>T)
c.5127+19C>T (n.5127+19C>T)
c.5052+19C>T (n.5052+19C>T)
n.2907+19C>T
c.5184+19C>T (n.5184+19C>T)
c.5130+19C>T (n.5130+19C>T)
c.5145+19C>T (n.5145+19C>T)
c.5055+19C>T (n.5055+19C>T)
c.5180+19C>T
n.3343+19C>T
c.5253+19C>T (n.5253+19C>T)
n.4074+19C>T
n.2511+19C>T
n.2482+19C>T
n.2372+19C>T
c.4914+19C>T (n.4914+19C>T)
c.*4426+19C>T (n.*4426+19C>T)
c.4950+19C>T (n.4950+19C>T)
n.2982+19C>T
c.1441+19C>T
n.2374+19C>T
c.5313+19C>T (n.5313+19C>T)
c.5310+19C>T (n.5310+19C>T)
c.5202+19C>T (n.5202+19C>T)
c.5181+19C>T (n.5181+19C>T)
c.4527+19C>T (n.4527+19C>T)
c.5475+19C>T (n.5475+19C>T)
c.5223+19C>T (n.5223+19C>T)
c.3969+19C>T (n.3969+19C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2088345C>ACA2575877524TSC2c.*3608+20C>A (n.*3608+20C>A)
c.5106+20C>A (n.5106+20C>A)
c.5256+20C>A (n.5256+20C>A)
c.*5772+20C>A (n.*5772+20C>A)
c.*8008+20C>A (n.*8008+20C>A)
c.5259+20C>A (n.5259+20C>A)
c.5190+20C>A (n.5190+20C>A)
c.5058+20C>A (n.5058+20C>A)
c.5091+20C>A (n.5091+20C>A)
c.1482+20C>A
n.3141+20C>A
c.3913+20C>A
c.5118+20C>A (n.5118+20C>A)
n.856+20C>A
c.5061+20C>A (n.5061+20C>A)
c.5127+20C>A (n.5127+20C>A)
c.5052+20C>A (n.5052+20C>A)
n.2907+20C>A
c.5184+20C>A (n.5184+20C>A)
c.5130+20C>A (n.5130+20C>A)
c.5145+20C>A (n.5145+20C>A)
c.5055+20C>A (n.5055+20C>A)
c.5180+20C>A
n.3343+20C>A
c.5253+20C>A (n.5253+20C>A)
n.4074+20C>A
n.2511+20C>A
n.2482+20C>A
n.2372+20C>A
c.4914+20C>A (n.4914+20C>A)
c.*4426+20C>A (n.*4426+20C>A)
c.4950+20C>A (n.4950+20C>A)
n.2982+20C>A
c.1441+20C>A
n.2374+20C>A
c.5313+20C>A (n.5313+20C>A)
c.5310+20C>A (n.5310+20C>A)
c.5202+20C>A (n.5202+20C>A)
c.5181+20C>A (n.5181+20C>A)
c.4527+20C>A (n.4527+20C>A)
c.5475+20C>A (n.5475+20C>A)
c.5223+20C>A (n.5223+20C>A)
c.3969+20C>A (n.3969+20C>A)
16g.2088345C=CA2202032826TSC2c.*3608+20C= (n.*3608+20C=)
c.5106+20C= (n.5106+20C=)
c.5256+20C= (n.5256+20C=)
c.*5772+20C= (n.*5772+20C=)
c.*8008+20C= (n.*8008+20C=)
c.5259+20C= (n.5259+20C=)
c.5190+20C= (n.5190+20C=)
c.5058+20C= (n.5058+20C=)
c.5091+20C= (n.5091+20C=)
c.1482+20C=
n.3141+20C=
c.3913+20C=
c.5118+20C= (n.5118+20C=)
n.856+20C=
c.5061+20C= (n.5061+20C=)
c.5127+20C= (n.5127+20C=)
c.5052+20C= (n.5052+20C=)
n.2907+20C=
c.5184+20C= (n.5184+20C=)
c.5130+20C= (n.5130+20C=)
c.5145+20C= (n.5145+20C=)
c.5055+20C= (n.5055+20C=)
c.5180+20C=
n.3343+20C=
c.5253+20C= (n.5253+20C=)
n.4074+20C=
n.2511+20C=
n.2482+20C=
n.2372+20C=
c.4914+20C= (n.4914+20C=)
c.*4426+20C= (n.*4426+20C=)
c.4950+20C= (n.4950+20C=)
n.2982+20C=
c.1441+20C=
n.2374+20C=
c.5313+20C= (n.5313+20C=)
c.5310+20C= (n.5310+20C=)
c.5202+20C= (n.5202+20C=)
c.5181+20C= (n.5181+20C=)
c.4527+20C= (n.4527+20C=)
c.5475+20C= (n.5475+20C=)
c.5223+20C= (n.5223+20C=)
c.3969+20C= (n.3969+20C=)
16g.2088345C>GCA276759692TSC2c.*3608+20C>G (n.*3608+20C>G)
c.5106+20C>G (n.5106+20C>G)
c.5256+20C>G (n.5256+20C>G)
c.*5772+20C>G (n.*5772+20C>G)
c.*8008+20C>G (n.*8008+20C>G)
c.5259+20C>G (n.5259+20C>G)
c.5190+20C>G (n.5190+20C>G)
c.5058+20C>G (n.5058+20C>G)
c.5091+20C>G (n.5091+20C>G)
c.1482+20C>G
n.3141+20C>G
c.3913+20C>G
c.5118+20C>G (n.5118+20C>G)
n.856+20C>G
c.5061+20C>G (n.5061+20C>G)
c.5127+20C>G (n.5127+20C>G)
c.5052+20C>G (n.5052+20C>G)
n.2907+20C>G
c.5184+20C>G (n.5184+20C>G)
c.5130+20C>G (n.5130+20C>G)
c.5145+20C>G (n.5145+20C>G)
c.5055+20C>G (n.5055+20C>G)
c.5180+20C>G
n.3343+20C>G
c.5253+20C>G (n.5253+20C>G)
n.4074+20C>G
n.2511+20C>G
n.2482+20C>G
n.2372+20C>G
c.4914+20C>G (n.4914+20C>G)
c.*4426+20C>G (n.*4426+20C>G)
c.4950+20C>G (n.4950+20C>G)
n.2982+20C>G
c.1441+20C>G
n.2374+20C>G
c.5313+20C>G (n.5313+20C>G)
c.5310+20C>G (n.5310+20C>G)
c.5202+20C>G (n.5202+20C>G)
c.5181+20C>G (n.5181+20C>G)
c.4527+20C>G (n.4527+20C>G)
c.5475+20C>G (n.5475+20C>G)
c.5223+20C>G (n.5223+20C>G)
c.3969+20C>G (n.3969+20C>G)
 ClinVar dbSNP gnomAD v4
16g.2088345C>TCA2573151982TSC2c.*3608+20C>T (n.*3608+20C>T)
c.5106+20C>T (n.5106+20C>T)
c.5256+20C>T (n.5256+20C>T)
c.*5772+20C>T (n.*5772+20C>T)
c.*8008+20C>T (n.*8008+20C>T)
c.5259+20C>T (n.5259+20C>T)
c.5190+20C>T (n.5190+20C>T)
c.5058+20C>T (n.5058+20C>T)
c.5091+20C>T (n.5091+20C>T)
c.1482+20C>T
n.3141+20C>T
c.3913+20C>T
c.5118+20C>T (n.5118+20C>T)
n.856+20C>T
c.5061+20C>T (n.5061+20C>T)
c.5127+20C>T (n.5127+20C>T)
c.5052+20C>T (n.5052+20C>T)
n.2907+20C>T
c.5184+20C>T (n.5184+20C>T)
c.5130+20C>T (n.5130+20C>T)
c.5145+20C>T (n.5145+20C>T)
c.5055+20C>T (n.5055+20C>T)
c.5180+20C>T
n.3343+20C>T
c.5253+20C>T (n.5253+20C>T)
n.4074+20C>T
n.2511+20C>T
n.2482+20C>T
n.2372+20C>T
c.4914+20C>T (n.4914+20C>T)
c.*4426+20C>T (n.*4426+20C>T)
c.4950+20C>T (n.4950+20C>T)
n.2982+20C>T
c.1441+20C>T
n.2374+20C>T
c.5313+20C>T (n.5313+20C>T)
c.5310+20C>T (n.5310+20C>T)
c.5202+20C>T (n.5202+20C>T)
c.5181+20C>T (n.5181+20C>T)
c.4527+20C>T (n.4527+20C>T)
c.5475+20C>T (n.5475+20C>T)
c.5223+20C>T (n.5223+20C>T)
c.3969+20C>T (n.3969+20C>T)
 ClinVar dbSNP gnomAD v4

Number of alleles fetched