UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2088232_2088247del | CA2695221751 | TSC2 | c.*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?) | |
| 16 | g.2088246A= | CA2202031710 | TSC2 | c.*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=) | |
| 16 | g.2088246A>C | CA394314092 | TSC2 | c.*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 |
| 16 | g.2088246A>G | CA394314093 | TSC2 | c.*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 |
| 16 | g.2088246A>T | CA394314094 | TSC2 | c.*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 |
| 16 | g.2088247_2088248del | CA2695221753 | TSC2 | c.*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?) | |
| 16 | g.2088247T>A | CA394314096 | TSC2 | c.*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 |
| 16 | g.2088247T>C | CA054336 | TSC2 | c.*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 |
| 16 | g.2088247T>G | CA394314099 | TSC2 | c.*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 |
| 16 | g.2088247T= | CA2202031712 | TSC2 | c.*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=) | |
| 16 | g.2088248A= | CA2202031716 | TSC2 | c.*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=) | |
| 16 | g.2088248A>C | CA394314102 | TSC2 | c.*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 |
| 16 | g.2088248A>G | CA394314103 | TSC2 | c.*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 |
| 16 | g.2088248A>T | CA394314105 | TSC2 | c.*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 |
| 16 | g.2088248_2088249insC | CA620705066 | TSC2 | c.*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 |
| 16 | g.2088249G>A | CA394314108 | TSC2 | c.*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 |
| 16 | g.2088249G>C | CA394314109 | TSC2 | c.*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 |
| 16 | g.2088249G= | CA2202031725 | TSC2 | c.*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=) | |
| 16 | g.2088249G>T | CA394314110 | TSC2 | c.*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 |
| 16 | g.2088249_2088250del | CA973770587 | TSC2 | c.*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 |
| 16 | g.2088250C>A | CA394314116 | TSC2 | c.*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 |
| 16 | g.2088250C= | CA2202031736 | TSC2 | c.*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=) | |
| 16 | g.2088250C>G | CA394314115 | TSC2 | c.*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 |
| 16 | g.2088250C>T | CA022090 | TSC2 | c.*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 |
| 16 | g.2088250_2088256del | CA2805573900 | TSC2 | c.*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?) | |
| 16 | g.2088251C>A | CA394314117 | TSC2 | c.*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 |
| 16 | g.2088251C= | CA2202031744 | TSC2 | c.*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=) | |
| 16 | g.2088251C>G | CA394314122 | TSC2 | c.*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 |
| 16 | g.2088251C>T | CA022096 | TSC2 | c.*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 |
| 16 | g.2088252G>A | CA054348 | TSC2 | c.*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 |
| 16 | g.2088252G>C | CA276759337 | TSC2 | c.*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 |
| 16 | g.2088252G= | CA2202031767 | TSC2 | c.*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=) | |
| 16 | g.2088252G>T | CA394314128 | TSC2 | c.*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 |
| 16 | g.2088252_2088256delinsGCTCC | CA2202031774 | TSC2 | c.*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=) | |
| 16 | g.2088252_2088259delinsGCTCCAAC | CA2202031769 | TSC2 | c.*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=) | |
| 16 | g.2088253del | CA973770606 | TSC2 | c.*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 |
| 16 | g.2088253C>A | CA493043747 | TSC2 | c.*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=) | |
| 16 | g.2088253C= | CA2202031784 | TSC2 | c.*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=) | |
| 16 | g.2088253C>G | CA493043748 | TSC2 | c.*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 |
| 16 | g.2088253C>T | CA493043749 | TSC2 | c.*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 |
| 16 | g.2088253_2088256del | CA620705067 | TSC2 | c.*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 |
| 16 | g.2088254_2088260del | CA973770608 | TSC2 | c.*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 |
| 16 | g.2088254T>A | CA394314134 | TSC2 | c.*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) | |
| 16 | g.2088254T>C | CA394314140 | TSC2 | c.*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 |
| 16 | g.2088254T>G | CA394314147 | TSC2 | c.*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 |
| 16 | g.2088255C>A | CA394314148 | TSC2 | c.*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) | |
| 16 | g.2088255C= | CA2202031789 | TSC2 | c.*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=) | |
| 16 | g.2088255C>G | CA394314149 | TSC2 | c.*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 |
| 16 | g.2088255C>T | CA394314151 | TSC2 | c.*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 |
| 16 | g.2088256C>A | CA493043755 | TSC2 | c.*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 |