Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.2088481_2088496dup | CA2805573952 | TSC2 | c.*3644_*3659dup (n.*3644_*3659dup) c.5142_5157dup (p.Pro1720ThrfsTer9) c.5292_5307dup (p.Pro1770ThrfsTer9) c.*5808_*5823dup (n.*5808_*5823dup) c.*8044_*8059dup (n.*8044_*8059dup) c.5295_5310dup (p.Pro1771ThrfsTer9) c.5226_5241dup (p.Pro1748ThrfsTer9) c.5094_5109dup (p.Pro1704ThrfsTer9) c.5127_5142dup (p.Pro1715ThrfsTer9) c.1518_1533dup n.3177_3192dup c.3949_3964dup c.5154_5169dup (p.Pro1724ThrfsTer9) n.892_907dup c.5097_5112dup (p.Pro1705ThrfsTer9) c.5163_5178dup (p.Pro1727ThrfsTer9) c.5088_5103dup (p.Pro1702ThrfsTer9) n.2943_2958dup c.5220_5235dup (p.Pro1746ThrfsTer9) c.5166_5181dup (p.Pro1728ThrfsTer9) c.5181_5196dup (p.Pro1733ThrfsTer9) c.5091_5106dup (p.Pro1703ThrfsTer9) c.5216_5231dup n.3379_3394dup c.5289_5304dup (p.Pro1769ThrfsTer9) n.4110_4125dup n.2547_2562dup n.2518_2533dup n.2408_2423dup c.4950_4965dup (p.Pro1656ThrfsTer9) c.*4462_*4477dup (n.*4462_*4477dup) c.4986_5001dup (p.Pro1668ThrfsTer9) n.3018_3033dup c.1477_1492dup n.2410_2425dup c.5349_5364dup (p.Pro1789ThrfsTer9) c.5346_5361dup (p.Pro1788ThrfsTer9) c.5238_5253dup (p.Pro1752ThrfsTer9) c.5217_5232dup (p.Pro1745ThrfsTer9) c.4563_4578dup (p.Pro1527ThrfsTer9) c.5511_5526dup (p.Pro1843ThrfsTer9) c.5259_5274dup (p.Pro1759ThrfsTer9) c.4005_4020dup (p.Pro1341ThrfsTer9) | |
16 | g.2088490G>A | CA493043687 | TSC2 | c.*3653G>A (n.*3653G>A) c.5151G>A (p.Val1717=) c.5301G>A (p.Val1767=) c.*5817G>A (n.*5817G>A) c.*8053G>A (n.*8053G>A) c.5304G>A (p.Val1768=) c.5235G>A (p.Val1745=) c.5103G>A (p.Val1701=) c.5136G>A (p.Val1712=) c.1527G>A n.3186G>A c.3958G>A c.5163G>A (p.Val1721=) n.901G>A c.5106G>A (p.Val1702=) c.5172G>A (p.Val1724=) c.5097G>A (p.Val1699=) n.2952G>A c.5229G>A (p.Val1743=) c.5175G>A (p.Val1725=) c.5190G>A (p.Val1730=) c.5100G>A (p.Val1700=) c.5225G>A n.3388G>A c.5298G>A (p.Val1766=) n.4119G>A n.2556G>A n.2527G>A n.2417G>A c.4959G>A (p.Val1653=) c.*4471G>A (n.*4471G>A) c.4995G>A (p.Val1665=) n.3027G>A c.1486G>A n.2419G>A c.5358G>A (p.Val1786=) c.5355G>A (p.Val1785=) c.5247G>A (p.Val1749=) c.5226G>A (p.Val1742=) c.4572G>A (p.Val1524=) c.5520G>A (p.Val1840=) c.5268G>A (p.Val1756=) c.4014G>A (p.Val1338=) | ClinVar dbSNP |
16 | g.2088490G>C | CA493043688 | TSC2 | c.*3653G>C (n.*3653G>C) c.5151G>C (p.Val1717=) c.5301G>C (p.Val1767=) c.*5817G>C (n.*5817G>C) c.*8053G>C (n.*8053G>C) c.5304G>C (p.Val1768=) c.5235G>C (p.Val1745=) c.5103G>C (p.Val1701=) c.5136G>C (p.Val1712=) c.1527G>C n.3186G>C c.3958G>C c.5163G>C (p.Val1721=) n.901G>C c.5106G>C (p.Val1702=) c.5172G>C (p.Val1724=) c.5097G>C (p.Val1699=) n.2952G>C c.5229G>C (p.Val1743=) c.5175G>C (p.Val1725=) c.5190G>C (p.Val1730=) c.5100G>C (p.Val1700=) c.5225G>C n.3388G>C c.5298G>C (p.Val1766=) n.4119G>C n.2556G>C n.2527G>C n.2417G>C c.4959G>C (p.Val1653=) c.*4471G>C (n.*4471G>C) c.4995G>C (p.Val1665=) n.3027G>C c.1486G>C n.2419G>C c.5358G>C (p.Val1786=) c.5355G>C (p.Val1785=) c.5247G>C (p.Val1749=) c.5226G>C (p.Val1742=) c.4572G>C (p.Val1524=) c.5520G>C (p.Val1840=) c.5268G>C (p.Val1756=) c.4014G>C (p.Val1338=) | |
16 | g.2088490G= | CA2202033617 | TSC2 | c.*3653G= (n.*3653G=) c.5151G= (p.Val1717=) c.5301G= (p.Val1767=) c.*5817G= (n.*5817G=) c.*8053G= (n.*8053G=) c.5304G= (p.Val1768=) c.5235G= (p.Val1745=) c.5103G= (p.Val1701=) c.5136G= (p.Val1712=) c.1527G= n.3186G= c.3958G= c.5163G= (p.Val1721=) n.901G= c.5106G= (p.Val1702=) c.5172G= (p.Val1724=) c.5097G= (p.Val1699=) n.2952G= c.5229G= (p.Val1743=) c.5175G= (p.Val1725=) c.5190G= (p.Val1730=) c.5100G= (p.Val1700=) c.5225G= n.3388G= c.5298G= (p.Val1766=) n.4119G= n.2556G= n.2527G= n.2417G= c.4959G= (p.Val1653=) c.*4471G= (n.*4471G=) c.4995G= (p.Val1665=) n.3027G= c.1486G= n.2419G= c.5358G= (p.Val1786=) c.5355G= (p.Val1785=) c.5247G= (p.Val1749=) c.5226G= (p.Val1742=) c.4572G= (p.Val1524=) c.5520G= (p.Val1840=) c.5268G= (p.Val1756=) c.4014G= (p.Val1338=) | |
16 | g.2088490G>T | CA493043689 | TSC2 | c.*3653G>T (n.*3653G>T) c.5151G>T (p.Val1717=) c.5301G>T (p.Val1767=) c.*5817G>T (n.*5817G>T) c.*8053G>T (n.*8053G>T) c.5304G>T (p.Val1768=) c.5235G>T (p.Val1745=) c.5103G>T (p.Val1701=) c.5136G>T (p.Val1712=) c.1527G>T n.3186G>T c.3958G>T c.5163G>T (p.Val1721=) n.901G>T c.5106G>T (p.Val1702=) c.5172G>T (p.Val1724=) c.5097G>T (p.Val1699=) n.2952G>T c.5229G>T (p.Val1743=) c.5175G>T (p.Val1725=) c.5190G>T (p.Val1730=) c.5100G>T (p.Val1700=) c.5225G>T n.3388G>T c.5298G>T (p.Val1766=) n.4119G>T n.2556G>T n.2527G>T n.2417G>T c.4959G>T (p.Val1653=) c.*4471G>T (n.*4471G>T) c.4995G>T (p.Val1665=) n.3027G>T c.1486G>T n.2419G>T c.5358G>T (p.Val1786=) c.5355G>T (p.Val1785=) c.5247G>T (p.Val1749=) c.5226G>T (p.Val1742=) c.4572G>T (p.Val1524=) c.5520G>T (p.Val1840=) c.5268G>T (p.Val1756=) c.4014G>T (p.Val1338=) | |
16 | g.2088491C>A | CA394315375 | TSC2 | c.*3654C>A (n.*3654C>A) c.5152C>A (p.His1718Asn) c.5302C>A (p.His1768Asn) c.*5818C>A (n.*5818C>A) c.*8054C>A (n.*8054C>A) c.5305C>A (p.His1769Asn) c.5236C>A (p.His1746Asn) c.5104C>A (p.His1702Asn) c.5137C>A (p.His1713Asn) c.1528C>A n.3187C>A c.3959C>A c.5164C>A (p.His1722Asn) n.902C>A c.5107C>A (p.His1703Asn) c.5173C>A (p.His1725Asn) c.5098C>A (p.His1700Asn) n.2953C>A c.5230C>A (p.His1744Asn) c.5176C>A (p.His1726Asn) c.5191C>A (p.His1731Asn) c.5101C>A (p.His1701Asn) c.5226C>A n.3389C>A c.5299C>A (p.His1767Asn) n.4120C>A n.2557C>A n.2528C>A n.2418C>A c.4960C>A (p.His1654Asn) c.*4472C>A (n.*4472C>A) c.4996C>A (p.His1666Asn) n.3028C>A c.1487C>A n.2420C>A c.5359C>A (p.His1787Asn) c.5356C>A (p.His1786Asn) c.5248C>A (p.His1750Asn) c.5227C>A (p.His1743Asn) c.4573C>A (p.His1525Asn) c.5521C>A (p.His1841Asn) c.5269C>A (p.His1757Asn) c.4015C>A (p.His1339Asn) | |
16 | g.2088491C= | CA2202033623 | TSC2 | c.*3654C= (n.*3654C=) c.5152C= (p.His1718=) c.5302C= (p.His1768=) c.*5818C= (n.*5818C=) c.*8054C= (n.*8054C=) c.5305C= (p.His1769=) c.5236C= (p.His1746=) c.5104C= (p.His1702=) c.5137C= (p.His1713=) c.1528C= n.3187C= c.3959C= c.5164C= (p.His1722=) n.902C= c.5107C= (p.His1703=) c.5173C= (p.His1725=) c.5098C= (p.His1700=) n.2953C= c.5230C= (p.His1744=) c.5176C= (p.His1726=) c.5191C= (p.His1731=) c.5101C= (p.His1701=) c.5226C= n.3389C= c.5299C= (p.His1767=) n.4120C= n.2557C= n.2528C= n.2418C= c.4960C= (p.His1654=) c.*4472C= (n.*4472C=) c.4996C= (p.His1666=) n.3028C= c.1487C= n.2420C= c.5359C= (p.His1787=) c.5356C= (p.His1786=) c.5248C= (p.His1750=) c.5227C= (p.His1743=) c.4573C= (p.His1525=) c.5521C= (p.His1841=) c.5269C= (p.His1757=) c.4015C= (p.His1339=) | |
16 | g.2088491C>G | CA394315379 | TSC2 | c.*3654C>G (n.*3654C>G) c.5152C>G (p.His1718Asp) c.5302C>G (p.His1768Asp) c.*5818C>G (n.*5818C>G) c.*8054C>G (n.*8054C>G) c.5305C>G (p.His1769Asp) c.5236C>G (p.His1746Asp) c.5104C>G (p.His1702Asp) c.5137C>G (p.His1713Asp) c.1528C>G n.3187C>G c.3959C>G c.5164C>G (p.His1722Asp) n.902C>G c.5107C>G (p.His1703Asp) c.5173C>G (p.His1725Asp) c.5098C>G (p.His1700Asp) n.2953C>G c.5230C>G (p.His1744Asp) c.5176C>G (p.His1726Asp) c.5191C>G (p.His1731Asp) c.5101C>G (p.His1701Asp) c.5226C>G n.3389C>G c.5299C>G (p.His1767Asp) n.4120C>G n.2557C>G n.2528C>G n.2418C>G c.4960C>G (p.His1654Asp) c.*4472C>G (n.*4472C>G) c.4996C>G (p.His1666Asp) n.3028C>G c.1487C>G n.2420C>G c.5359C>G (p.His1787Asp) c.5356C>G (p.His1786Asp) c.5248C>G (p.His1750Asp) c.5227C>G (p.His1743Asp) c.4573C>G (p.His1525Asp) c.5521C>G (p.His1841Asp) c.5269C>G (p.His1757Asp) c.4015C>G (p.His1339Asp) | |
16 | g.2088491C>T | CA394315380 | TSC2 | c.*3654C>T (n.*3654C>T) c.5152C>T (p.His1718Tyr) c.5302C>T (p.His1768Tyr) c.*5818C>T (n.*5818C>T) c.*8054C>T (n.*8054C>T) c.5305C>T (p.His1769Tyr) c.5236C>T (p.His1746Tyr) c.5104C>T (p.His1702Tyr) c.5137C>T (p.His1713Tyr) c.1528C>T n.3187C>T c.3959C>T c.5164C>T (p.His1722Tyr) n.902C>T c.5107C>T (p.His1703Tyr) c.5173C>T (p.His1725Tyr) c.5098C>T (p.His1700Tyr) n.2953C>T c.5230C>T (p.His1744Tyr) c.5176C>T (p.His1726Tyr) c.5191C>T (p.His1731Tyr) c.5101C>T (p.His1701Tyr) c.5226C>T n.3389C>T c.5299C>T (p.His1767Tyr) n.4120C>T n.2557C>T n.2528C>T n.2418C>T c.4960C>T (p.His1654Tyr) c.*4472C>T (n.*4472C>T) c.4996C>T (p.His1666Tyr) n.3028C>T c.1487C>T n.2420C>T c.5359C>T (p.His1787Tyr) c.5356C>T (p.His1786Tyr) c.5248C>T (p.His1750Tyr) c.5227C>T (p.His1743Tyr) c.4573C>T (p.His1525Tyr) c.5521C>T (p.His1841Tyr) c.5269C>T (p.His1757Tyr) c.4015C>T (p.His1339Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.2088492A= | CA2202033632 | TSC2 | c.*3655A= (n.*3655A=) c.5153A= (p.His1718=) c.5303A= (p.His1768=) c.*5819A= (n.*5819A=) c.*8055A= (n.*8055A=) c.5306A= (p.His1769=) c.5237A= (p.His1746=) c.5105A= (p.His1702=) c.5138A= (p.His1713=) c.1529A= n.3188A= c.3960A= c.5165A= (p.His1722=) n.903A= c.5108A= (p.His1703=) c.5174A= (p.His1725=) c.5099A= (p.His1700=) n.2954A= c.5231A= (p.His1744=) c.5177A= (p.His1726=) c.5192A= (p.His1731=) c.5102A= (p.His1701=) c.5227A= n.3390A= c.5300A= (p.His1767=) n.4121A= n.2558A= n.2529A= n.2419A= c.4961A= (p.His1654=) c.*4473A= (n.*4473A=) c.4997A= (p.His1666=) n.3029A= c.1488A= n.2421A= c.5360A= (p.His1787=) c.5357A= (p.His1786=) c.5249A= (p.His1750=) c.5228A= (p.His1743=) c.4574A= (p.His1525=) c.5522A= (p.His1841=) c.5270A= (p.His1757=) c.4016A= (p.His1339=) | |
16 | g.2088492A>C | CA394315384 | TSC2 | c.*3655A>C (n.*3655A>C) c.5153A>C (p.His1718Pro) c.5303A>C (p.His1768Pro) c.*5819A>C (n.*5819A>C) c.*8055A>C (n.*8055A>C) c.5306A>C (p.His1769Pro) c.5237A>C (p.His1746Pro) c.5105A>C (p.His1702Pro) c.5138A>C (p.His1713Pro) c.1529A>C n.3188A>C c.3960A>C c.5165A>C (p.His1722Pro) n.903A>C c.5108A>C (p.His1703Pro) c.5174A>C (p.His1725Pro) c.5099A>C (p.His1700Pro) n.2954A>C c.5231A>C (p.His1744Pro) c.5177A>C (p.His1726Pro) c.5192A>C (p.His1731Pro) c.5102A>C (p.His1701Pro) c.5227A>C n.3390A>C c.5300A>C (p.His1767Pro) n.4121A>C n.2558A>C n.2529A>C n.2419A>C c.4961A>C (p.His1654Pro) c.*4473A>C (n.*4473A>C) c.4997A>C (p.His1666Pro) n.3029A>C c.1488A>C n.2421A>C c.5360A>C (p.His1787Pro) c.5357A>C (p.His1786Pro) c.5249A>C (p.His1750Pro) c.5228A>C (p.His1743Pro) c.4574A>C (p.His1525Pro) c.5522A>C (p.His1841Pro) c.5270A>C (p.His1757Pro) c.4016A>C (p.His1339Pro) | |
16 | g.2088492A>G | CA394315386 | TSC2 | c.*3655A>G (n.*3655A>G) c.5153A>G (p.His1718Arg) c.5303A>G (p.His1768Arg) c.*5819A>G (n.*5819A>G) c.*8055A>G (n.*8055A>G) c.5306A>G (p.His1769Arg) c.5237A>G (p.His1746Arg) c.5105A>G (p.His1702Arg) c.5138A>G (p.His1713Arg) c.1529A>G n.3188A>G c.3960A>G c.5165A>G (p.His1722Arg) n.903A>G c.5108A>G (p.His1703Arg) c.5174A>G (p.His1725Arg) c.5099A>G (p.His1700Arg) n.2954A>G c.5231A>G (p.His1744Arg) c.5177A>G (p.His1726Arg) c.5192A>G (p.His1731Arg) c.5102A>G (p.His1701Arg) c.5227A>G n.3390A>G c.5300A>G (p.His1767Arg) n.4121A>G n.2558A>G n.2529A>G n.2419A>G c.4961A>G (p.His1654Arg) c.*4473A>G (n.*4473A>G) c.4997A>G (p.His1666Arg) n.3029A>G c.1488A>G n.2421A>G c.5360A>G (p.His1787Arg) c.5357A>G (p.His1786Arg) c.5249A>G (p.His1750Arg) c.5228A>G (p.His1743Arg) c.4574A>G (p.His1525Arg) c.5522A>G (p.His1841Arg) c.5270A>G (p.His1757Arg) c.4016A>G (p.His1339Arg) | ClinVar dbSNP gnomAD v4 |
16 | g.2088492A>T | CA394315381 | TSC2 | c.*3655A>T (n.*3655A>T) c.5153A>T (p.His1718Leu) c.5303A>T (p.His1768Leu) c.*5819A>T (n.*5819A>T) c.*8055A>T (n.*8055A>T) c.5306A>T (p.His1769Leu) c.5237A>T (p.His1746Leu) c.5105A>T (p.His1702Leu) c.5138A>T (p.His1713Leu) c.1529A>T n.3188A>T c.3960A>T c.5165A>T (p.His1722Leu) n.903A>T c.5108A>T (p.His1703Leu) c.5174A>T (p.His1725Leu) c.5099A>T (p.His1700Leu) n.2954A>T c.5231A>T (p.His1744Leu) c.5177A>T (p.His1726Leu) c.5192A>T (p.His1731Leu) c.5102A>T (p.His1701Leu) c.5227A>T n.3390A>T c.5300A>T (p.His1767Leu) n.4121A>T n.2558A>T n.2529A>T n.2419A>T c.4961A>T (p.His1654Leu) c.*4473A>T (n.*4473A>T) c.4997A>T (p.His1666Leu) n.3029A>T c.1488A>T n.2421A>T c.5360A>T (p.His1787Leu) c.5357A>T (p.His1786Leu) c.5249A>T (p.His1750Leu) c.5228A>T (p.His1743Leu) c.4574A>T (p.His1525Leu) c.5522A>T (p.His1841Leu) c.5270A>T (p.His1757Leu) c.4016A>T (p.His1339Leu) | |
16 | g.2088493C>A | CA394315387 | TSC2 | c.*3656C>A (n.*3656C>A) c.5154C>A (p.His1718Gln) c.5304C>A (p.His1768Gln) c.*5820C>A (n.*5820C>A) c.*8056C>A (n.*8056C>A) c.5307C>A (p.His1769Gln) c.5238C>A (p.His1746Gln) c.5106C>A (p.His1702Gln) c.5139C>A (p.His1713Gln) c.1530C>A n.3189C>A c.3961C>A c.5166C>A (p.His1722Gln) n.904C>A c.5109C>A (p.His1703Gln) c.5175C>A (p.His1725Gln) c.5100C>A (p.His1700Gln) n.2955C>A c.5232C>A (p.His1744Gln) c.5178C>A (p.His1726Gln) c.5193C>A (p.His1731Gln) c.5103C>A (p.His1701Gln) c.5228C>A n.3391C>A c.5301C>A (p.His1767Gln) n.4122C>A n.2559C>A n.2530C>A n.2420C>A c.4962C>A (p.His1654Gln) c.*4474C>A (n.*4474C>A) c.4998C>A (p.His1666Gln) n.3030C>A c.1489C>A n.2422C>A c.5361C>A (p.His1787Gln) c.5358C>A (p.His1786Gln) c.5250C>A (p.His1750Gln) c.5229C>A (p.His1743Gln) c.4575C>A (p.His1525Gln) c.5523C>A (p.His1841Gln) c.5271C>A (p.His1757Gln) c.4017C>A (p.His1339Gln) | gnomAD v4 |
16 | g.2088493C= | CA2202033643 | TSC2 | c.*3656C= (n.*3656C=) c.5154C= (p.His1718=) c.5304C= (p.His1768=) c.*5820C= (n.*5820C=) c.*8056C= (n.*8056C=) c.5307C= (p.His1769=) c.5238C= (p.His1746=) c.5106C= (p.His1702=) c.5139C= (p.His1713=) c.1530C= n.3189C= c.3961C= c.5166C= (p.His1722=) n.904C= c.5109C= (p.His1703=) c.5175C= (p.His1725=) c.5100C= (p.His1700=) n.2955C= c.5232C= (p.His1744=) c.5178C= (p.His1726=) c.5193C= (p.His1731=) c.5103C= (p.His1701=) c.5228C= n.3391C= c.5301C= (p.His1767=) n.4122C= n.2559C= n.2530C= n.2420C= c.4962C= (p.His1654=) c.*4474C= (n.*4474C=) c.4998C= (p.His1666=) n.3030C= c.1489C= n.2422C= c.5361C= (p.His1787=) c.5358C= (p.His1786=) c.5250C= (p.His1750=) c.5229C= (p.His1743=) c.4575C= (p.His1525=) c.5523C= (p.His1841=) c.5271C= (p.His1757=) c.4017C= (p.His1339=) | |
16 | g.2088493C>G | CA394315391 | TSC2 | c.*3656C>G (n.*3656C>G) c.5154C>G (p.His1718Gln) c.5304C>G (p.His1768Gln) c.*5820C>G (n.*5820C>G) c.*8056C>G (n.*8056C>G) c.5307C>G (p.His1769Gln) c.5238C>G (p.His1746Gln) c.5106C>G (p.His1702Gln) c.5139C>G (p.His1713Gln) c.1530C>G n.3189C>G c.3961C>G c.5166C>G (p.His1722Gln) n.904C>G c.5109C>G (p.His1703Gln) c.5175C>G (p.His1725Gln) c.5100C>G (p.His1700Gln) n.2955C>G c.5232C>G (p.His1744Gln) c.5178C>G (p.His1726Gln) c.5193C>G (p.His1731Gln) c.5103C>G (p.His1701Gln) c.5228C>G n.3391C>G c.5301C>G (p.His1767Gln) n.4122C>G n.2559C>G n.2530C>G n.2420C>G c.4962C>G (p.His1654Gln) c.*4474C>G (n.*4474C>G) c.4998C>G (p.His1666Gln) n.3030C>G c.1489C>G n.2422C>G c.5361C>G (p.His1787Gln) c.5358C>G (p.His1786Gln) c.5250C>G (p.His1750Gln) c.5229C>G (p.His1743Gln) c.4575C>G (p.His1525Gln) c.5523C>G (p.His1841Gln) c.5271C>G (p.His1757Gln) c.4017C>G (p.His1339Gln) | ClinVar dbSNP |
16 | g.2088493C>T | CA055008 | TSC2 | c.*3656C>T (n.*3656C>T) c.5154C>T (p.His1718=) c.5304C>T (p.His1768=) c.*5820C>T (n.*5820C>T) c.*8056C>T (n.*8056C>T) c.5307C>T (p.His1769=) c.5238C>T (p.His1746=) c.5106C>T (p.His1702=) c.5139C>T (p.His1713=) c.1530C>T n.3189C>T c.3961C>T c.5166C>T (p.His1722=) n.904C>T c.5109C>T (p.His1703=) c.5175C>T (p.His1725=) c.5100C>T (p.His1700=) n.2955C>T c.5232C>T (p.His1744=) c.5178C>T (p.His1726=) c.5193C>T (p.His1731=) c.5103C>T (p.His1701=) c.5228C>T n.3391C>T c.5301C>T (p.His1767=) n.4122C>T n.2559C>T n.2530C>T n.2420C>T c.4962C>T (p.His1654=) c.*4474C>T (n.*4474C>T) c.4998C>T (p.His1666=) n.3030C>T c.1489C>T n.2422C>T c.5361C>T (p.His1787=) c.5358C>T (p.His1786=) c.5250C>T (p.His1750=) c.5229C>T (p.His1743=) c.4575C>T (p.His1525=) c.5523C>T (p.His1841=) c.5271C>T (p.His1757=) c.4017C>T (p.His1339=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088494C>A | CA394315399 | TSC2 | c.*3657C>A (n.*3657C>A) c.5155C>A (p.Pro1719Thr) c.5305C>A (p.Pro1769Thr) c.*5821C>A (n.*5821C>A) c.*8057C>A (n.*8057C>A) c.5308C>A (p.Pro1770Thr) c.5239C>A (p.Pro1747Thr) c.5107C>A (p.Pro1703Thr) c.5140C>A (p.Pro1714Thr) c.1531C>A n.3190C>A c.3962C>A c.5167C>A (p.Pro1723Thr) n.905C>A c.5110C>A (p.Pro1704Thr) c.5176C>A (p.Pro1726Thr) c.5101C>A (p.Pro1701Thr) n.2956C>A c.5233C>A (p.Pro1745Thr) c.5179C>A (p.Pro1727Thr) c.5194C>A (p.Pro1732Thr) c.5104C>A (p.Pro1702Thr) c.5229C>A n.3392C>A c.5302C>A (p.Pro1768Thr) n.4123C>A n.2560C>A n.2531C>A n.2421C>A c.4963C>A (p.Pro1655Thr) c.*4475C>A (n.*4475C>A) c.4999C>A (p.Pro1667Thr) n.3031C>A c.1490C>A n.2423C>A c.5362C>A (p.Pro1788Thr) c.5359C>A (p.Pro1787Thr) c.5251C>A (p.Pro1751Thr) c.5230C>A (p.Pro1744Thr) c.4576C>A (p.Pro1526Thr) c.5524C>A (p.Pro1842Thr) c.5272C>A (p.Pro1758Thr) c.4018C>A (p.Pro1340Thr) | |
16 | g.2088494C= | CA2202033648 | TSC2 | c.*3657C= (n.*3657C=) c.5155C= (p.Pro1719=) c.5305C= (p.Pro1769=) c.*5821C= (n.*5821C=) c.*8057C= (n.*8057C=) c.5308C= (p.Pro1770=) c.5239C= (p.Pro1747=) c.5107C= (p.Pro1703=) c.5140C= (p.Pro1714=) c.1531C= n.3190C= c.3962C= c.5167C= (p.Pro1723=) n.905C= c.5110C= (p.Pro1704=) c.5176C= (p.Pro1726=) c.5101C= (p.Pro1701=) n.2956C= c.5233C= (p.Pro1745=) c.5179C= (p.Pro1727=) c.5194C= (p.Pro1732=) c.5104C= (p.Pro1702=) c.5229C= n.3392C= c.5302C= (p.Pro1768=) n.4123C= n.2560C= n.2531C= n.2421C= c.4963C= (p.Pro1655=) c.*4475C= (n.*4475C=) c.4999C= (p.Pro1667=) n.3031C= c.1490C= n.2423C= c.5362C= (p.Pro1788=) c.5359C= (p.Pro1787=) c.5251C= (p.Pro1751=) c.5230C= (p.Pro1744=) c.4576C= (p.Pro1526=) c.5524C= (p.Pro1842=) c.5272C= (p.Pro1758=) c.4018C= (p.Pro1340=) | |
16 | g.2088494C>G | CA394315402 | TSC2 | c.*3657C>G (n.*3657C>G) c.5155C>G (p.Pro1719Ala) c.5305C>G (p.Pro1769Ala) c.*5821C>G (n.*5821C>G) c.*8057C>G (n.*8057C>G) c.5308C>G (p.Pro1770Ala) c.5239C>G (p.Pro1747Ala) c.5107C>G (p.Pro1703Ala) c.5140C>G (p.Pro1714Ala) c.1531C>G n.3190C>G c.3962C>G c.5167C>G (p.Pro1723Ala) n.905C>G c.5110C>G (p.Pro1704Ala) c.5176C>G (p.Pro1726Ala) c.5101C>G (p.Pro1701Ala) n.2956C>G c.5233C>G (p.Pro1745Ala) c.5179C>G (p.Pro1727Ala) c.5194C>G (p.Pro1732Ala) c.5104C>G (p.Pro1702Ala) c.5229C>G n.3392C>G c.5302C>G (p.Pro1768Ala) n.4123C>G n.2560C>G n.2531C>G n.2421C>G c.4963C>G (p.Pro1655Ala) c.*4475C>G (n.*4475C>G) c.4999C>G (p.Pro1667Ala) n.3031C>G c.1490C>G n.2423C>G c.5362C>G (p.Pro1788Ala) c.5359C>G (p.Pro1787Ala) c.5251C>G (p.Pro1751Ala) c.5230C>G (p.Pro1744Ala) c.4576C>G (p.Pro1526Ala) c.5524C>G (p.Pro1842Ala) c.5272C>G (p.Pro1758Ala) c.4018C>G (p.Pro1340Ala) | |
16 | g.2088494C>T | CA055015 | TSC2 | c.*3657C>T (n.*3657C>T) c.5155C>T (p.Pro1719Ser) c.5305C>T (p.Pro1769Ser) c.*5821C>T (n.*5821C>T) c.*8057C>T (n.*8057C>T) c.5308C>T (p.Pro1770Ser) c.5239C>T (p.Pro1747Ser) c.5107C>T (p.Pro1703Ser) c.5140C>T (p.Pro1714Ser) c.1531C>T n.3190C>T c.3962C>T c.5167C>T (p.Pro1723Ser) n.905C>T c.5110C>T (p.Pro1704Ser) c.5176C>T (p.Pro1726Ser) c.5101C>T (p.Pro1701Ser) n.2956C>T c.5233C>T (p.Pro1745Ser) c.5179C>T (p.Pro1727Ser) c.5194C>T (p.Pro1732Ser) c.5104C>T (p.Pro1702Ser) c.5229C>T n.3392C>T c.5302C>T (p.Pro1768Ser) n.4123C>T n.2560C>T n.2531C>T n.2421C>T c.4963C>T (p.Pro1655Ser) c.*4475C>T (n.*4475C>T) c.4999C>T (p.Pro1667Ser) n.3031C>T c.1490C>T n.2423C>T c.5362C>T (p.Pro1788Ser) c.5359C>T (p.Pro1787Ser) c.5251C>T (p.Pro1751Ser) c.5230C>T (p.Pro1744Ser) c.4576C>T (p.Pro1526Ser) c.5524C>T (p.Pro1842Ser) c.5272C>T (p.Pro1758Ser) c.4018C>T (p.Pro1340Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
16 | g.2088495C>A | CA394315405 | TSC2 | c.*3658C>A (n.*3658C>A) c.5156C>A (p.Pro1719His) c.5306C>A (p.Pro1769His) c.*5822C>A (n.*5822C>A) c.*8058C>A (n.*8058C>A) c.5309C>A (p.Pro1770His) c.5240C>A (p.Pro1747His) c.5108C>A (p.Pro1703His) c.5141C>A (p.Pro1714His) c.1532C>A n.3191C>A c.3963C>A c.5168C>A (p.Pro1723His) n.906C>A c.5111C>A (p.Pro1704His) c.5177C>A (p.Pro1726His) c.5102C>A (p.Pro1701His) n.2957C>A c.5234C>A (p.Pro1745His) c.5180C>A (p.Pro1727His) c.5195C>A (p.Pro1732His) c.5105C>A (p.Pro1702His) c.5230C>A n.3393C>A c.5303C>A (p.Pro1768His) n.4124C>A n.2561C>A n.2532C>A n.2422C>A c.4964C>A (p.Pro1655His) c.*4476C>A (n.*4476C>A) c.5000C>A (p.Pro1667His) n.3032C>A c.1491C>A n.2424C>A c.5363C>A (p.Pro1788His) c.5360C>A (p.Pro1787His) c.5252C>A (p.Pro1751His) c.5231C>A (p.Pro1744His) c.4577C>A (p.Pro1526His) c.5525C>A (p.Pro1842His) c.5273C>A (p.Pro1758His) c.4019C>A (p.Pro1340His) | dbSNP |
16 | g.2088495C= | CA2202033657 | TSC2 | c.*3658C= (n.*3658C=) c.5156C= (p.Pro1719=) c.5306C= (p.Pro1769=) c.*5822C= (n.*5822C=) c.*8058C= (n.*8058C=) c.5309C= (p.Pro1770=) c.5240C= (p.Pro1747=) c.5108C= (p.Pro1703=) c.5141C= (p.Pro1714=) c.1532C= n.3191C= c.3963C= c.5168C= (p.Pro1723=) n.906C= c.5111C= (p.Pro1704=) c.5177C= (p.Pro1726=) c.5102C= (p.Pro1701=) n.2957C= c.5234C= (p.Pro1745=) c.5180C= (p.Pro1727=) c.5195C= (p.Pro1732=) c.5105C= (p.Pro1702=) c.5230C= n.3393C= c.5303C= (p.Pro1768=) n.4124C= n.2561C= n.2532C= n.2422C= c.4964C= (p.Pro1655=) c.*4476C= (n.*4476C=) c.5000C= (p.Pro1667=) n.3032C= c.1491C= n.2424C= c.5363C= (p.Pro1788=) c.5360C= (p.Pro1787=) c.5252C= (p.Pro1751=) c.5231C= (p.Pro1744=) c.4577C= (p.Pro1526=) c.5525C= (p.Pro1842=) c.5273C= (p.Pro1758=) c.4019C= (p.Pro1340=) | |
16 | g.2088495C>G | CA055029 | TSC2 | c.*3658C>G (n.*3658C>G) c.5156C>G (p.Pro1719Arg) c.5306C>G (p.Pro1769Arg) c.*5822C>G (n.*5822C>G) c.*8058C>G (n.*8058C>G) c.5309C>G (p.Pro1770Arg) c.5240C>G (p.Pro1747Arg) c.5108C>G (p.Pro1703Arg) c.5141C>G (p.Pro1714Arg) c.1532C>G n.3191C>G c.3963C>G c.5168C>G (p.Pro1723Arg) n.906C>G c.5111C>G (p.Pro1704Arg) c.5177C>G (p.Pro1726Arg) c.5102C>G (p.Pro1701Arg) n.2957C>G c.5234C>G (p.Pro1745Arg) c.5180C>G (p.Pro1727Arg) c.5195C>G (p.Pro1732Arg) c.5105C>G (p.Pro1702Arg) c.5230C>G n.3393C>G c.5303C>G (p.Pro1768Arg) n.4124C>G n.2561C>G n.2532C>G n.2422C>G c.4964C>G (p.Pro1655Arg) c.*4476C>G (n.*4476C>G) c.5000C>G (p.Pro1667Arg) n.3032C>G c.1491C>G n.2424C>G c.5363C>G (p.Pro1788Arg) c.5360C>G (p.Pro1787Arg) c.5252C>G (p.Pro1751Arg) c.5231C>G (p.Pro1744Arg) c.4577C>G (p.Pro1526Arg) c.5525C>G (p.Pro1842Arg) c.5273C>G (p.Pro1758Arg) c.4019C>G (p.Pro1340Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2088495C>T | CA394315411 | TSC2 | c.*3658C>T (n.*3658C>T) c.5156C>T (p.Pro1719Leu) c.5306C>T (p.Pro1769Leu) c.*5822C>T (n.*5822C>T) c.*8058C>T (n.*8058C>T) c.5309C>T (p.Pro1770Leu) c.5240C>T (p.Pro1747Leu) c.5108C>T (p.Pro1703Leu) c.5141C>T (p.Pro1714Leu) c.1532C>T n.3191C>T c.3963C>T c.5168C>T (p.Pro1723Leu) n.906C>T c.5111C>T (p.Pro1704Leu) c.5177C>T (p.Pro1726Leu) c.5102C>T (p.Pro1701Leu) n.2957C>T c.5234C>T (p.Pro1745Leu) c.5180C>T (p.Pro1727Leu) c.5195C>T (p.Pro1732Leu) c.5105C>T (p.Pro1702Leu) c.5230C>T n.3393C>T c.5303C>T (p.Pro1768Leu) n.4124C>T n.2561C>T n.2532C>T n.2422C>T c.4964C>T (p.Pro1655Leu) c.*4476C>T (n.*4476C>T) c.5000C>T (p.Pro1667Leu) n.3032C>T c.1491C>T n.2424C>T c.5363C>T (p.Pro1788Leu) c.5360C>T (p.Pro1787Leu) c.5252C>T (p.Pro1751Leu) c.5231C>T (p.Pro1744Leu) c.4577C>T (p.Pro1526Leu) c.5525C>T (p.Pro1842Leu) c.5273C>T (p.Pro1758Leu) c.4019C>T (p.Pro1340Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088496T>A | CA493043692 | TSC2 | c.*3659T>A (n.*3659T>A) c.5157T>A (p.Pro1719=) c.5307T>A (p.Pro1769=) c.*5823T>A (n.*5823T>A) c.*8059T>A (n.*8059T>A) c.5310T>A (p.Pro1770=) c.5241T>A (p.Pro1747=) c.5109T>A (p.Pro1703=) c.5142T>A (p.Pro1714=) c.1533T>A n.3192T>A c.3964T>A c.5169T>A (p.Pro1723=) n.907T>A c.5112T>A (p.Pro1704=) c.5178T>A (p.Pro1726=) c.5103T>A (p.Pro1701=) n.2958T>A c.5235T>A (p.Pro1745=) c.5181T>A (p.Pro1727=) c.5196T>A (p.Pro1732=) c.5106T>A (p.Pro1702=) c.5231T>A n.3394T>A c.5304T>A (p.Pro1768=) n.4125T>A n.2562T>A n.2533T>A n.2423T>A c.4965T>A (p.Pro1655=) c.*4477T>A (n.*4477T>A) c.5001T>A (p.Pro1667=) n.3033T>A c.1492T>A n.2425T>A c.5364T>A (p.Pro1788=) c.5361T>A (p.Pro1787=) c.5253T>A (p.Pro1751=) c.5232T>A (p.Pro1744=) c.4578T>A (p.Pro1526=) c.5526T>A (p.Pro1842=) c.5274T>A (p.Pro1758=) c.4020T>A (p.Pro1340=) | gnomAD v4 |
16 | g.2088496T>C | CA493043694 | TSC2 | c.*3659T>C (n.*3659T>C) c.5157T>C (p.Pro1719=) c.5307T>C (p.Pro1769=) c.*5823T>C (n.*5823T>C) c.*8059T>C (n.*8059T>C) c.5310T>C (p.Pro1770=) c.5241T>C (p.Pro1747=) c.5109T>C (p.Pro1703=) c.5142T>C (p.Pro1714=) c.1533T>C n.3192T>C c.3964T>C c.5169T>C (p.Pro1723=) n.907T>C c.5112T>C (p.Pro1704=) c.5178T>C (p.Pro1726=) c.5103T>C (p.Pro1701=) n.2958T>C c.5235T>C (p.Pro1745=) c.5181T>C (p.Pro1727=) c.5196T>C (p.Pro1732=) c.5106T>C (p.Pro1702=) c.5231T>C n.3394T>C c.5304T>C (p.Pro1768=) n.4125T>C n.2562T>C n.2533T>C n.2423T>C c.4965T>C (p.Pro1655=) c.*4477T>C (n.*4477T>C) c.5001T>C (p.Pro1667=) n.3033T>C c.1492T>C n.2425T>C c.5364T>C (p.Pro1788=) c.5361T>C (p.Pro1787=) c.5253T>C (p.Pro1751=) c.5232T>C (p.Pro1744=) c.4578T>C (p.Pro1526=) c.5526T>C (p.Pro1842=) c.5274T>C (p.Pro1758=) c.4020T>C (p.Pro1340=) | |
16 | g.2088496T>G | CA493043693 | TSC2 | c.*3659T>G (n.*3659T>G) c.5157T>G (p.Pro1719=) c.5307T>G (p.Pro1769=) c.*5823T>G (n.*5823T>G) c.*8059T>G (n.*8059T>G) c.5310T>G (p.Pro1770=) c.5241T>G (p.Pro1747=) c.5109T>G (p.Pro1703=) c.5142T>G (p.Pro1714=) c.1533T>G n.3192T>G c.3964T>G c.5169T>G (p.Pro1723=) n.907T>G c.5112T>G (p.Pro1704=) c.5178T>G (p.Pro1726=) c.5103T>G (p.Pro1701=) n.2958T>G c.5235T>G (p.Pro1745=) c.5181T>G (p.Pro1727=) c.5196T>G (p.Pro1732=) c.5106T>G (p.Pro1702=) c.5231T>G n.3394T>G c.5304T>G (p.Pro1768=) n.4125T>G n.2562T>G n.2533T>G n.2423T>G c.4965T>G (p.Pro1655=) c.*4477T>G (n.*4477T>G) c.5001T>G (p.Pro1667=) n.3033T>G c.1492T>G n.2425T>G c.5364T>G (p.Pro1788=) c.5361T>G (p.Pro1787=) c.5253T>G (p.Pro1751=) c.5232T>G (p.Pro1744=) c.4578T>G (p.Pro1526=) c.5526T>G (p.Pro1842=) c.5274T>G (p.Pro1758=) c.4020T>G (p.Pro1340=) | |
16 | g.2088497C>A | CA394315421 | TSC2 | c.*3660C>A (n.*3660C>A) c.5158C>A (p.Pro1720Thr) c.5308C>A (p.Pro1770Thr) c.*5824C>A (n.*5824C>A) c.*8060C>A (n.*8060C>A) c.5311C>A (p.Pro1771Thr) c.5242C>A (p.Pro1748Thr) c.5110C>A (p.Pro1704Thr) c.5143C>A (p.Pro1715Thr) c.1534C>A n.3193C>A c.3965C>A c.5170C>A (p.Pro1724Thr) n.908C>A c.5113C>A (p.Pro1705Thr) c.5179C>A (p.Pro1727Thr) c.5104C>A (p.Pro1702Thr) n.2959C>A c.5236C>A (p.Pro1746Thr) c.5182C>A (p.Pro1728Thr) c.5197C>A (p.Pro1733Thr) c.5107C>A (p.Pro1703Thr) c.5232C>A n.3395C>A c.5305C>A (p.Pro1769Thr) n.4126C>A n.2563C>A n.2534C>A n.2424C>A c.4966C>A (p.Pro1656Thr) c.*4478C>A (n.*4478C>A) c.5002C>A (p.Pro1668Thr) n.3034C>A c.1493C>A n.2426C>A c.5365C>A (p.Pro1789Thr) c.5362C>A (p.Pro1788Thr) c.5254C>A (p.Pro1752Thr) c.5233C>A (p.Pro1745Thr) c.4579C>A (p.Pro1527Thr) c.5527C>A (p.Pro1843Thr) c.5275C>A (p.Pro1759Thr) c.4021C>A (p.Pro1341Thr) | ClinVar dbSNP |
16 | g.2088497C= | CA2202033696 | TSC2 | c.*3660C= (n.*3660C=) c.5158C= (p.Pro1720=) c.5308C= (p.Pro1770=) c.*5824C= (n.*5824C=) c.*8060C= (n.*8060C=) c.5311C= (p.Pro1771=) c.5242C= (p.Pro1748=) c.5110C= (p.Pro1704=) c.5143C= (p.Pro1715=) c.1534C= n.3193C= c.3965C= c.5170C= (p.Pro1724=) n.908C= c.5113C= (p.Pro1705=) c.5179C= (p.Pro1727=) c.5104C= (p.Pro1702=) n.2959C= c.5236C= (p.Pro1746=) c.5182C= (p.Pro1728=) c.5197C= (p.Pro1733=) c.5107C= (p.Pro1703=) c.5232C= n.3395C= c.5305C= (p.Pro1769=) n.4126C= n.2563C= n.2534C= n.2424C= c.4966C= (p.Pro1656=) c.*4478C= (n.*4478C=) c.5002C= (p.Pro1668=) n.3034C= c.1493C= n.2426C= c.5365C= (p.Pro1789=) c.5362C= (p.Pro1788=) c.5254C= (p.Pro1752=) c.5233C= (p.Pro1745=) c.4579C= (p.Pro1527=) c.5527C= (p.Pro1843=) c.5275C= (p.Pro1759=) c.4021C= (p.Pro1341=) | |
16 | g.2088497C>G | CA055040 | TSC2 | c.*3660C>G (n.*3660C>G) c.5158C>G (p.Pro1720Ala) c.5308C>G (p.Pro1770Ala) c.*5824C>G (n.*5824C>G) c.*8060C>G (n.*8060C>G) c.5311C>G (p.Pro1771Ala) c.5242C>G (p.Pro1748Ala) c.5110C>G (p.Pro1704Ala) c.5143C>G (p.Pro1715Ala) c.1534C>G n.3193C>G c.3965C>G c.5170C>G (p.Pro1724Ala) n.908C>G c.5113C>G (p.Pro1705Ala) c.5179C>G (p.Pro1727Ala) c.5104C>G (p.Pro1702Ala) n.2959C>G c.5236C>G (p.Pro1746Ala) c.5182C>G (p.Pro1728Ala) c.5197C>G (p.Pro1733Ala) c.5107C>G (p.Pro1703Ala) c.5232C>G n.3395C>G c.5305C>G (p.Pro1769Ala) n.4126C>G n.2563C>G n.2534C>G n.2424C>G c.4966C>G (p.Pro1656Ala) c.*4478C>G (n.*4478C>G) c.5002C>G (p.Pro1668Ala) n.3034C>G c.1493C>G n.2426C>G c.5365C>G (p.Pro1789Ala) c.5362C>G (p.Pro1788Ala) c.5254C>G (p.Pro1752Ala) c.5233C>G (p.Pro1745Ala) c.4579C>G (p.Pro1527Ala) c.5527C>G (p.Pro1843Ala) c.5275C>G (p.Pro1759Ala) c.4021C>G (p.Pro1341Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2088497C>T | CA394315429 | TSC2 | c.*3660C>T (n.*3660C>T) c.5158C>T (p.Pro1720Ser) c.5308C>T (p.Pro1770Ser) c.*5824C>T (n.*5824C>T) c.*8060C>T (n.*8060C>T) c.5311C>T (p.Pro1771Ser) c.5242C>T (p.Pro1748Ser) c.5110C>T (p.Pro1704Ser) c.5143C>T (p.Pro1715Ser) c.1534C>T n.3193C>T c.3965C>T c.5170C>T (p.Pro1724Ser) n.908C>T c.5113C>T (p.Pro1705Ser) c.5179C>T (p.Pro1727Ser) c.5104C>T (p.Pro1702Ser) n.2959C>T c.5236C>T (p.Pro1746Ser) c.5182C>T (p.Pro1728Ser) c.5197C>T (p.Pro1733Ser) c.5107C>T (p.Pro1703Ser) c.5232C>T n.3395C>T c.5305C>T (p.Pro1769Ser) n.4126C>T n.2563C>T n.2534C>T n.2424C>T c.4966C>T (p.Pro1656Ser) c.*4478C>T (n.*4478C>T) c.5002C>T (p.Pro1668Ser) n.3034C>T c.1493C>T n.2426C>T c.5365C>T (p.Pro1789Ser) c.5362C>T (p.Pro1788Ser) c.5254C>T (p.Pro1752Ser) c.5233C>T (p.Pro1745Ser) c.4579C>T (p.Pro1527Ser) c.5527C>T (p.Pro1843Ser) c.5275C>T (p.Pro1759Ser) c.4021C>T (p.Pro1341Ser) | ClinVar dbSNP gnomAD v2 |
16 | g.2088498C>A | CA394315432 | TSC2 | c.*3661C>A (n.*3661C>A) c.5159C>A (p.Pro1720Gln) c.5309C>A (p.Pro1770Gln) c.*5825C>A (n.*5825C>A) c.*8061C>A (n.*8061C>A) c.5312C>A (p.Pro1771Gln) c.5243C>A (p.Pro1748Gln) c.5111C>A (p.Pro1704Gln) c.5144C>A (p.Pro1715Gln) c.1535C>A n.3194C>A c.3966C>A c.5171C>A (p.Pro1724Gln) n.909C>A c.5114C>A (p.Pro1705Gln) c.5180C>A (p.Pro1727Gln) c.5105C>A (p.Pro1702Gln) n.2960C>A c.5237C>A (p.Pro1746Gln) c.5183C>A (p.Pro1728Gln) c.5198C>A (p.Pro1733Gln) c.5108C>A (p.Pro1703Gln) c.5233C>A n.3396C>A c.5306C>A (p.Pro1769Gln) n.4127C>A n.2564C>A n.2535C>A n.2425C>A c.4967C>A (p.Pro1656Gln) c.*4479C>A (n.*4479C>A) c.5003C>A (p.Pro1668Gln) n.3035C>A c.1494C>A n.2427C>A c.5366C>A (p.Pro1789Gln) c.5363C>A (p.Pro1788Gln) c.5255C>A (p.Pro1752Gln) c.5234C>A (p.Pro1745Gln) c.4580C>A (p.Pro1527Gln) c.5528C>A (p.Pro1843Gln) c.5276C>A (p.Pro1759Gln) c.4022C>A (p.Pro1341Gln) | ClinVar dbSNP gnomAD v4 |
16 | g.2088498C= | CA2202033710 | TSC2 | c.*3661C= (n.*3661C=) c.5159C= (p.Pro1720=) c.5309C= (p.Pro1770=) c.*5825C= (n.*5825C=) c.*8061C= (n.*8061C=) c.5312C= (p.Pro1771=) c.5243C= (p.Pro1748=) c.5111C= (p.Pro1704=) c.5144C= (p.Pro1715=) c.1535C= n.3194C= c.3966C= c.5171C= (p.Pro1724=) n.909C= c.5114C= (p.Pro1705=) c.5180C= (p.Pro1727=) c.5105C= (p.Pro1702=) n.2960C= c.5237C= (p.Pro1746=) c.5183C= (p.Pro1728=) c.5198C= (p.Pro1733=) c.5108C= (p.Pro1703=) c.5233C= n.3396C= c.5306C= (p.Pro1769=) n.4127C= n.2564C= n.2535C= n.2425C= c.4967C= (p.Pro1656=) c.*4479C= (n.*4479C=) c.5003C= (p.Pro1668=) n.3035C= c.1494C= n.2427C= c.5366C= (p.Pro1789=) c.5363C= (p.Pro1788=) c.5255C= (p.Pro1752=) c.5234C= (p.Pro1745=) c.4580C= (p.Pro1527=) c.5528C= (p.Pro1843=) c.5276C= (p.Pro1759=) c.4022C= (p.Pro1341=) | |
16 | g.2088498C>G | CA394315434 | TSC2 | c.*3661C>G (n.*3661C>G) c.5159C>G (p.Pro1720Arg) c.5309C>G (p.Pro1770Arg) c.*5825C>G (n.*5825C>G) c.*8061C>G (n.*8061C>G) c.5312C>G (p.Pro1771Arg) c.5243C>G (p.Pro1748Arg) c.5111C>G (p.Pro1704Arg) c.5144C>G (p.Pro1715Arg) c.1535C>G n.3194C>G c.3966C>G c.5171C>G (p.Pro1724Arg) n.909C>G c.5114C>G (p.Pro1705Arg) c.5180C>G (p.Pro1727Arg) c.5105C>G (p.Pro1702Arg) n.2960C>G c.5237C>G (p.Pro1746Arg) c.5183C>G (p.Pro1728Arg) c.5198C>G (p.Pro1733Arg) c.5108C>G (p.Pro1703Arg) c.5233C>G n.3396C>G c.5306C>G (p.Pro1769Arg) n.4127C>G n.2564C>G n.2535C>G n.2425C>G c.4967C>G (p.Pro1656Arg) c.*4479C>G (n.*4479C>G) c.5003C>G (p.Pro1668Arg) n.3035C>G c.1494C>G n.2427C>G c.5366C>G (p.Pro1789Arg) c.5363C>G (p.Pro1788Arg) c.5255C>G (p.Pro1752Arg) c.5234C>G (p.Pro1745Arg) c.4580C>G (p.Pro1527Arg) c.5528C>G (p.Pro1843Arg) c.5276C>G (p.Pro1759Arg) c.4022C>G (p.Pro1341Arg) | gnomAD v4 |
16 | g.2088498C>T | CA022380 | TSC2 | c.*3661C>T (n.*3661C>T) c.5159C>T (p.Pro1720Leu) c.5309C>T (p.Pro1770Leu) c.*5825C>T (n.*5825C>T) c.*8061C>T (n.*8061C>T) c.5312C>T (p.Pro1771Leu) c.5243C>T (p.Pro1748Leu) c.5111C>T (p.Pro1704Leu) c.5144C>T (p.Pro1715Leu) c.1535C>T n.3194C>T c.3966C>T c.5171C>T (p.Pro1724Leu) n.909C>T c.5114C>T (p.Pro1705Leu) c.5180C>T (p.Pro1727Leu) c.5105C>T (p.Pro1702Leu) n.2960C>T c.5237C>T (p.Pro1746Leu) c.5183C>T (p.Pro1728Leu) c.5198C>T (p.Pro1733Leu) c.5108C>T (p.Pro1703Leu) c.5233C>T n.3396C>T c.5306C>T (p.Pro1769Leu) n.4127C>T n.2564C>T n.2535C>T n.2425C>T c.4967C>T (p.Pro1656Leu) c.*4479C>T (n.*4479C>T) c.5003C>T (p.Pro1668Leu) n.3035C>T c.1494C>T n.2427C>T c.5366C>T (p.Pro1789Leu) c.5363C>T (p.Pro1788Leu) c.5255C>T (p.Pro1752Leu) c.5234C>T (p.Pro1745Leu) c.4580C>T (p.Pro1527Leu) c.5528C>T (p.Pro1843Leu) c.5276C>T (p.Pro1759Leu) c.4022C>T (p.Pro1341Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088499G>A | CA055071 | TSC2 | c.*3662G>A (n.*3662G>A) c.5160G>A (p.Pro1720=) c.5310G>A (p.Pro1770=) c.*5826G>A (n.*5826G>A) c.*8062G>A (n.*8062G>A) c.5313G>A (p.Pro1771=) c.5244G>A (p.Pro1748=) c.5112G>A (p.Pro1704=) c.5145G>A (p.Pro1715=) c.1536G>A n.3195G>A c.3967G>A c.5172G>A (p.Pro1724=) n.910G>A c.5115G>A (p.Pro1705=) c.5181G>A (p.Pro1727=) c.5106G>A (p.Pro1702=) n.2961G>A c.5238G>A (p.Pro1746=) c.5184G>A (p.Pro1728=) c.5199G>A (p.Pro1733=) c.5109G>A (p.Pro1703=) c.5234G>A n.3397G>A c.5307G>A (p.Pro1769=) n.4128G>A n.2565G>A n.2536G>A n.2426G>A c.4968G>A (p.Pro1656=) c.*4480G>A (n.*4480G>A) c.5004G>A (p.Pro1668=) n.3036G>A c.1495G>A n.2428G>A c.5367G>A (p.Pro1789=) c.5364G>A (p.Pro1788=) c.5256G>A (p.Pro1752=) c.5235G>A (p.Pro1745=) c.4581G>A (p.Pro1527=) c.5529G>A (p.Pro1843=) c.5277G>A (p.Pro1759=) c.4023G>A (p.Pro1341=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088499G>C | CA493043697 | TSC2 | c.*3662G>C (n.*3662G>C) c.5160G>C (p.Pro1720=) c.5310G>C (p.Pro1770=) c.*5826G>C (n.*5826G>C) c.*8062G>C (n.*8062G>C) c.5313G>C (p.Pro1771=) c.5244G>C (p.Pro1748=) c.5112G>C (p.Pro1704=) c.5145G>C (p.Pro1715=) c.1536G>C n.3195G>C c.3967G>C c.5172G>C (p.Pro1724=) n.910G>C c.5115G>C (p.Pro1705=) c.5181G>C (p.Pro1727=) c.5106G>C (p.Pro1702=) n.2961G>C c.5238G>C (p.Pro1746=) c.5184G>C (p.Pro1728=) c.5199G>C (p.Pro1733=) c.5109G>C (p.Pro1703=) c.5234G>C n.3397G>C c.5307G>C (p.Pro1769=) n.4128G>C n.2565G>C n.2536G>C n.2426G>C c.4968G>C (p.Pro1656=) c.*4480G>C (n.*4480G>C) c.5004G>C (p.Pro1668=) n.3036G>C c.1495G>C n.2428G>C c.5367G>C (p.Pro1789=) c.5364G>C (p.Pro1788=) c.5256G>C (p.Pro1752=) c.5235G>C (p.Pro1745=) c.4581G>C (p.Pro1527=) c.5529G>C (p.Pro1843=) c.5277G>C (p.Pro1759=) c.4023G>C (p.Pro1341=) | ClinVar dbSNP gnomAD v4 |
16 | g.2088499G= | CA2202033717 | TSC2 | c.*3662G= (n.*3662G=) c.5160G= (p.Pro1720=) c.5310G= (p.Pro1770=) c.*5826G= (n.*5826G=) c.*8062G= (n.*8062G=) c.5313G= (p.Pro1771=) c.5244G= (p.Pro1748=) c.5112G= (p.Pro1704=) c.5145G= (p.Pro1715=) c.1536G= n.3195G= c.3967G= c.5172G= (p.Pro1724=) n.910G= c.5115G= (p.Pro1705=) c.5181G= (p.Pro1727=) c.5106G= (p.Pro1702=) n.2961G= c.5238G= (p.Pro1746=) c.5184G= (p.Pro1728=) c.5199G= (p.Pro1733=) c.5109G= (p.Pro1703=) c.5234G= n.3397G= c.5307G= (p.Pro1769=) n.4128G= n.2565G= n.2536G= n.2426G= c.4968G= (p.Pro1656=) c.*4480G= (n.*4480G=) c.5004G= (p.Pro1668=) n.3036G= c.1495G= n.2428G= c.5367G= (p.Pro1789=) c.5364G= (p.Pro1788=) c.5256G= (p.Pro1752=) c.5235G= (p.Pro1745=) c.4581G= (p.Pro1527=) c.5529G= (p.Pro1843=) c.5277G= (p.Pro1759=) c.4023G= (p.Pro1341=) | |
16 | g.2088499G>T | CA493043698 | TSC2 | c.*3662G>T (n.*3662G>T) c.5160G>T (p.Pro1720=) c.5310G>T (p.Pro1770=) c.*5826G>T (n.*5826G>T) c.*8062G>T (n.*8062G>T) c.5313G>T (p.Pro1771=) c.5244G>T (p.Pro1748=) c.5112G>T (p.Pro1704=) c.5145G>T (p.Pro1715=) c.1536G>T n.3195G>T c.3967G>T c.5172G>T (p.Pro1724=) n.910G>T c.5115G>T (p.Pro1705=) c.5181G>T (p.Pro1727=) c.5106G>T (p.Pro1702=) n.2961G>T c.5238G>T (p.Pro1746=) c.5184G>T (p.Pro1728=) c.5199G>T (p.Pro1733=) c.5109G>T (p.Pro1703=) c.5234G>T n.3397G>T c.5307G>T (p.Pro1769=) n.4128G>T n.2565G>T n.2536G>T n.2426G>T c.4968G>T (p.Pro1656=) c.*4480G>T (n.*4480G>T) c.5004G>T (p.Pro1668=) n.3036G>T c.1495G>T n.2428G>T c.5367G>T (p.Pro1789=) c.5364G>T (p.Pro1788=) c.5256G>T (p.Pro1752=) c.5235G>T (p.Pro1745=) c.4581G>T (p.Pro1527=) c.5529G>T (p.Pro1843=) c.5277G>T (p.Pro1759=) c.4023G>T (p.Pro1341=) | |
16 | g.2088500T>A | CA394315440 | TSC2 | c.*3663T>A (n.*3663T>A) c.5161T>A (p.Ser1721Thr) c.5311T>A (p.Ser1771Thr) c.*5827T>A (n.*5827T>A) c.*8063T>A (n.*8063T>A) c.5314T>A (p.Ser1772Thr) c.5245T>A (p.Ser1749Thr) c.5113T>A (p.Ser1705Thr) c.5146T>A (p.Ser1716Thr) c.1537T>A n.3196T>A c.3968T>A c.5173T>A (p.Ser1725Thr) n.911T>A c.5116T>A (p.Ser1706Thr) c.5182T>A (p.Ser1728Thr) c.5107T>A (p.Ser1703Thr) n.2962T>A c.5239T>A (p.Ser1747Thr) c.5185T>A (p.Ser1729Thr) c.5200T>A (p.Ser1734Thr) c.5110T>A (p.Ser1704Thr) c.5235T>A n.3398T>A c.5308T>A (p.Ser1770Thr) n.4129T>A n.2566T>A n.2537T>A n.2427T>A c.4969T>A (p.Ser1657Thr) c.*4481T>A (n.*4481T>A) c.5005T>A (p.Ser1669Thr) n.3037T>A c.1496T>A n.2429T>A c.5368T>A (p.Ser1790Thr) c.5365T>A (p.Ser1789Thr) c.5257T>A (p.Ser1753Thr) c.5236T>A (p.Ser1746Thr) c.4582T>A (p.Ser1528Thr) c.5530T>A (p.Ser1844Thr) c.5278T>A (p.Ser1760Thr) c.4024T>A (p.Ser1342Thr) | |
16 | g.2088500T>C | CA394315443 | TSC2 | c.*3663T>C (n.*3663T>C) c.5161T>C (p.Ser1721Pro) c.5311T>C (p.Ser1771Pro) c.*5827T>C (n.*5827T>C) c.*8063T>C (n.*8063T>C) c.5314T>C (p.Ser1772Pro) c.5245T>C (p.Ser1749Pro) c.5113T>C (p.Ser1705Pro) c.5146T>C (p.Ser1716Pro) c.1537T>C n.3196T>C c.3968T>C c.5173T>C (p.Ser1725Pro) n.911T>C c.5116T>C (p.Ser1706Pro) c.5182T>C (p.Ser1728Pro) c.5107T>C (p.Ser1703Pro) n.2962T>C c.5239T>C (p.Ser1747Pro) c.5185T>C (p.Ser1729Pro) c.5200T>C (p.Ser1734Pro) c.5110T>C (p.Ser1704Pro) c.5235T>C n.3398T>C c.5308T>C (p.Ser1770Pro) n.4129T>C n.2566T>C n.2537T>C n.2427T>C c.4969T>C (p.Ser1657Pro) c.*4481T>C (n.*4481T>C) c.5005T>C (p.Ser1669Pro) n.3037T>C c.1496T>C n.2429T>C c.5368T>C (p.Ser1790Pro) c.5365T>C (p.Ser1789Pro) c.5257T>C (p.Ser1753Pro) c.5236T>C (p.Ser1746Pro) c.4582T>C (p.Ser1528Pro) c.5530T>C (p.Ser1844Pro) c.5278T>C (p.Ser1760Pro) c.4024T>C (p.Ser1342Pro) | |
16 | g.2088500T>G | CA16615050 | TSC2 | c.*3663T>G (n.*3663T>G) c.5161T>G (p.Ser1721Ala) c.5311T>G (p.Ser1771Ala) c.*5827T>G (n.*5827T>G) c.*8063T>G (n.*8063T>G) c.5314T>G (p.Ser1772Ala) c.5245T>G (p.Ser1749Ala) c.5113T>G (p.Ser1705Ala) c.5146T>G (p.Ser1716Ala) c.1537T>G n.3196T>G c.3968T>G c.5173T>G (p.Ser1725Ala) n.911T>G c.5116T>G (p.Ser1706Ala) c.5182T>G (p.Ser1728Ala) c.5107T>G (p.Ser1703Ala) n.2962T>G c.5239T>G (p.Ser1747Ala) c.5185T>G (p.Ser1729Ala) c.5200T>G (p.Ser1734Ala) c.5110T>G (p.Ser1704Ala) c.5235T>G n.3398T>G c.5308T>G (p.Ser1770Ala) n.4129T>G n.2566T>G n.2537T>G n.2427T>G c.4969T>G (p.Ser1657Ala) c.*4481T>G (n.*4481T>G) c.5005T>G (p.Ser1669Ala) n.3037T>G c.1496T>G n.2429T>G c.5368T>G (p.Ser1790Ala) c.5365T>G (p.Ser1789Ala) c.5257T>G (p.Ser1753Ala) c.5236T>G (p.Ser1746Ala) c.4582T>G (p.Ser1528Ala) c.5530T>G (p.Ser1844Ala) c.5278T>G (p.Ser1760Ala) c.4024T>G (p.Ser1342Ala) | ClinVar dbSNP |
16 | g.2088500T= | CA2202033731 | TSC2 | c.*3663T= (n.*3663T=) c.5161T= (p.Ser1721=) c.5311T= (p.Ser1771=) c.*5827T= (n.*5827T=) c.*8063T= (n.*8063T=) c.5314T= (p.Ser1772=) c.5245T= (p.Ser1749=) c.5113T= (p.Ser1705=) c.5146T= (p.Ser1716=) c.1537T= n.3196T= c.3968T= c.5173T= (p.Ser1725=) n.911T= c.5116T= (p.Ser1706=) c.5182T= (p.Ser1728=) c.5107T= (p.Ser1703=) n.2962T= c.5239T= (p.Ser1747=) c.5185T= (p.Ser1729=) c.5200T= (p.Ser1734=) c.5110T= (p.Ser1704=) c.5235T= n.3398T= c.5308T= (p.Ser1770=) n.4129T= n.2566T= n.2537T= n.2427T= c.4969T= (p.Ser1657=) c.*4481T= (n.*4481T=) c.5005T= (p.Ser1669=) n.3037T= c.1496T= n.2429T= c.5368T= (p.Ser1790=) c.5365T= (p.Ser1789=) c.5257T= (p.Ser1753=) c.5236T= (p.Ser1746=) c.4582T= (p.Ser1528=) c.5530T= (p.Ser1844=) c.5278T= (p.Ser1760=) c.4024T= (p.Ser1342=) | |
16 | g.2088501C>A | CA394315454 | TSC2 | c.*3664C>A (n.*3664C>A) c.5162C>A (p.Ser1721Tyr) c.5312C>A (p.Ser1771Tyr) c.*5828C>A (n.*5828C>A) c.*8064C>A (n.*8064C>A) c.5315C>A (p.Ser1772Tyr) c.5246C>A (p.Ser1749Tyr) c.5114C>A (p.Ser1705Tyr) c.5147C>A (p.Ser1716Tyr) c.1538C>A n.3197C>A c.3969C>A c.5174C>A (p.Ser1725Tyr) n.912C>A c.5117C>A (p.Ser1706Tyr) c.5183C>A (p.Ser1728Tyr) c.5108C>A (p.Ser1703Tyr) n.2963C>A c.5240C>A (p.Ser1747Tyr) c.5186C>A (p.Ser1729Tyr) c.5201C>A (p.Ser1734Tyr) c.5111C>A (p.Ser1704Tyr) c.5236C>A n.3399C>A c.5309C>A (p.Ser1770Tyr) n.4130C>A n.2567C>A n.2538C>A n.2428C>A c.4970C>A (p.Ser1657Tyr) c.*4482C>A (n.*4482C>A) c.5006C>A (p.Ser1669Tyr) n.3038C>A c.1497C>A n.2430C>A c.5369C>A (p.Ser1790Tyr) c.5366C>A (p.Ser1789Tyr) c.5258C>A (p.Ser1753Tyr) c.5237C>A (p.Ser1746Tyr) c.4583C>A (p.Ser1528Tyr) c.5531C>A (p.Ser1844Tyr) c.5279C>A (p.Ser1760Tyr) c.4025C>A (p.Ser1342Tyr) | |
16 | g.2088501C>G | CA394315452 | TSC2 | c.*3664C>G (n.*3664C>G) c.5162C>G (p.Ser1721Cys) c.5312C>G (p.Ser1771Cys) c.*5828C>G (n.*5828C>G) c.*8064C>G (n.*8064C>G) c.5315C>G (p.Ser1772Cys) c.5246C>G (p.Ser1749Cys) c.5114C>G (p.Ser1705Cys) c.5147C>G (p.Ser1716Cys) c.1538C>G n.3197C>G c.3969C>G c.5174C>G (p.Ser1725Cys) n.912C>G c.5117C>G (p.Ser1706Cys) c.5183C>G (p.Ser1728Cys) c.5108C>G (p.Ser1703Cys) n.2963C>G c.5240C>G (p.Ser1747Cys) c.5186C>G (p.Ser1729Cys) c.5201C>G (p.Ser1734Cys) c.5111C>G (p.Ser1704Cys) c.5236C>G n.3399C>G c.5309C>G (p.Ser1770Cys) n.4130C>G n.2567C>G n.2538C>G n.2428C>G c.4970C>G (p.Ser1657Cys) c.*4482C>G (n.*4482C>G) c.5006C>G (p.Ser1669Cys) n.3038C>G c.1497C>G n.2430C>G c.5369C>G (p.Ser1790Cys) c.5366C>G (p.Ser1789Cys) c.5258C>G (p.Ser1753Cys) c.5237C>G (p.Ser1746Cys) c.4583C>G (p.Ser1528Cys) c.5531C>G (p.Ser1844Cys) c.5279C>G (p.Ser1760Cys) c.4025C>G (p.Ser1342Cys) | ClinVar gnomAD v4 |
16 | g.2088501C>T | CA394315451 | TSC2 | c.*3664C>T (n.*3664C>T) c.5162C>T (p.Ser1721Phe) c.5312C>T (p.Ser1771Phe) c.*5828C>T (n.*5828C>T) c.*8064C>T (n.*8064C>T) c.5315C>T (p.Ser1772Phe) c.5246C>T (p.Ser1749Phe) c.5114C>T (p.Ser1705Phe) c.5147C>T (p.Ser1716Phe) c.1538C>T n.3197C>T c.3969C>T c.5174C>T (p.Ser1725Phe) n.912C>T c.5117C>T (p.Ser1706Phe) c.5183C>T (p.Ser1728Phe) c.5108C>T (p.Ser1703Phe) n.2963C>T c.5240C>T (p.Ser1747Phe) c.5186C>T (p.Ser1729Phe) c.5201C>T (p.Ser1734Phe) c.5111C>T (p.Ser1704Phe) c.5236C>T n.3399C>T c.5309C>T (p.Ser1770Phe) n.4130C>T n.2567C>T n.2538C>T n.2428C>T c.4970C>T (p.Ser1657Phe) c.*4482C>T (n.*4482C>T) c.5006C>T (p.Ser1669Phe) n.3038C>T c.1497C>T n.2430C>T c.5369C>T (p.Ser1790Phe) c.5366C>T (p.Ser1789Phe) c.5258C>T (p.Ser1753Phe) c.5237C>T (p.Ser1746Phe) c.4583C>T (p.Ser1528Phe) c.5531C>T (p.Ser1844Phe) c.5279C>T (p.Ser1760Phe) c.4025C>T (p.Ser1342Phe) | ClinVar dbSNP gnomAD v4 |
16 | g.2088502C>A | CA493043701 | TSC2 | c.*3665C>A (n.*3665C>A) c.5163C>A (p.Ser1721=) c.5313C>A (p.Ser1771=) c.*5829C>A (n.*5829C>A) c.*8065C>A (n.*8065C>A) c.5316C>A (p.Ser1772=) c.5247C>A (p.Ser1749=) c.5115C>A (p.Ser1705=) c.5148C>A (p.Ser1716=) c.1539C>A n.3198C>A c.3970C>A c.5175C>A (p.Ser1725=) n.913C>A c.5118C>A (p.Ser1706=) c.5184C>A (p.Ser1728=) c.5109C>A (p.Ser1703=) n.2964C>A c.5241C>A (p.Ser1747=) c.5187C>A (p.Ser1729=) c.5202C>A (p.Ser1734=) c.5112C>A (p.Ser1704=) c.5237C>A n.3400C>A c.5310C>A (p.Ser1770=) n.4131C>A n.2568C>A n.2539C>A n.2429C>A c.4971C>A (p.Ser1657=) c.*4483C>A (n.*4483C>A) c.5007C>A (p.Ser1669=) n.3039C>A c.1498C>A n.2431C>A c.5370C>A (p.Ser1790=) c.5367C>A (p.Ser1789=) c.5259C>A (p.Ser1753=) c.5238C>A (p.Ser1746=) c.4584C>A (p.Ser1528=) c.5532C>A (p.Ser1844=) c.5280C>A (p.Ser1760=) c.4026C>A (p.Ser1342=) | |
16 | g.2088502C>G | CA493043702 | TSC2 | c.*3665C>G (n.*3665C>G) c.5163C>G (p.Ser1721=) c.5313C>G (p.Ser1771=) c.*5829C>G (n.*5829C>G) c.*8065C>G (n.*8065C>G) c.5316C>G (p.Ser1772=) c.5247C>G (p.Ser1749=) c.5115C>G (p.Ser1705=) c.5148C>G (p.Ser1716=) c.1539C>G n.3198C>G c.3970C>G c.5175C>G (p.Ser1725=) n.913C>G c.5118C>G (p.Ser1706=) c.5184C>G (p.Ser1728=) c.5109C>G (p.Ser1703=) n.2964C>G c.5241C>G (p.Ser1747=) c.5187C>G (p.Ser1729=) c.5202C>G (p.Ser1734=) c.5112C>G (p.Ser1704=) c.5237C>G n.3400C>G c.5310C>G (p.Ser1770=) n.4131C>G n.2568C>G n.2539C>G n.2429C>G c.4971C>G (p.Ser1657=) c.*4483C>G (n.*4483C>G) c.5007C>G (p.Ser1669=) n.3039C>G c.1498C>G n.2431C>G c.5370C>G (p.Ser1790=) c.5367C>G (p.Ser1789=) c.5259C>G (p.Ser1753=) c.5238C>G (p.Ser1746=) c.4584C>G (p.Ser1528=) c.5532C>G (p.Ser1844=) c.5280C>G (p.Ser1760=) c.4026C>G (p.Ser1342=) | ClinVar dbSNP gnomAD v4 |
16 | g.2088502C>T | CA493043703 | TSC2 | c.*3665C>T (n.*3665C>T) c.5163C>T (p.Ser1721=) c.5313C>T (p.Ser1771=) c.*5829C>T (n.*5829C>T) c.*8065C>T (n.*8065C>T) c.5316C>T (p.Ser1772=) c.5247C>T (p.Ser1749=) c.5115C>T (p.Ser1705=) c.5148C>T (p.Ser1716=) c.1539C>T n.3198C>T c.3970C>T c.5175C>T (p.Ser1725=) n.913C>T c.5118C>T (p.Ser1706=) c.5184C>T (p.Ser1728=) c.5109C>T (p.Ser1703=) n.2964C>T c.5241C>T (p.Ser1747=) c.5187C>T (p.Ser1729=) c.5202C>T (p.Ser1734=) c.5112C>T (p.Ser1704=) c.5237C>T n.3400C>T c.5310C>T (p.Ser1770=) n.4131C>T n.2568C>T n.2539C>T n.2429C>T c.4971C>T (p.Ser1657=) c.*4483C>T (n.*4483C>T) c.5007C>T (p.Ser1669=) n.3039C>T c.1498C>T n.2431C>T c.5370C>T (p.Ser1790=) c.5367C>T (p.Ser1789=) c.5259C>T (p.Ser1753=) c.5238C>T (p.Ser1746=) c.4584C>T (p.Ser1528=) c.5532C>T (p.Ser1844=) c.5280C>T (p.Ser1760=) c.4026C>T (p.Ser1342=) | ClinVar |
16 | g.2088503C>A | CA394315458 | TSC2 | c.*3666C>A (n.*3666C>A) c.5164C>A (p.His1722Asn) c.5314C>A (p.His1772Asn) c.*5830C>A (n.*5830C>A) c.*8066C>A (n.*8066C>A) c.5317C>A (p.His1773Asn) c.5248C>A (p.His1750Asn) c.5116C>A (p.His1706Asn) c.5149C>A (p.His1717Asn) c.1540C>A n.3199C>A c.3971C>A c.5176C>A (p.His1726Asn) n.914C>A c.5119C>A (p.His1707Asn) c.5185C>A (p.His1729Asn) c.5110C>A (p.His1704Asn) n.2965C>A c.5242C>A (p.His1748Asn) c.5188C>A (p.His1730Asn) c.5203C>A (p.His1735Asn) c.5113C>A (p.His1705Asn) c.5238C>A n.3401C>A c.5311C>A (p.His1771Asn) n.4132C>A n.2569C>A n.2540C>A n.2430C>A c.4972C>A (p.His1658Asn) c.*4484C>A (n.*4484C>A) c.5008C>A (p.His1670Asn) n.3040C>A c.1499C>A n.2432C>A c.5371C>A (p.His1791Asn) c.5368C>A (p.His1790Asn) c.5260C>A (p.His1754Asn) c.5239C>A (p.His1747Asn) c.4585C>A (p.His1529Asn) c.5533C>A (p.His1845Asn) c.5281C>A (p.His1761Asn) c.4027C>A (p.His1343Asn) | ClinVar dbSNP |
16 | g.2088503C= | CA2202033754 | TSC2 | c.*3666C= (n.*3666C=) c.5164C= (p.His1722=) c.5314C= (p.His1772=) c.*5830C= (n.*5830C=) c.*8066C= (n.*8066C=) c.5317C= (p.His1773=) c.5248C= (p.His1750=) c.5116C= (p.His1706=) c.5149C= (p.His1717=) c.1540C= n.3199C= c.3971C= c.5176C= (p.His1726=) n.914C= c.5119C= (p.His1707=) c.5185C= (p.His1729=) c.5110C= (p.His1704=) n.2965C= c.5242C= (p.His1748=) c.5188C= (p.His1730=) c.5203C= (p.His1735=) c.5113C= (p.His1705=) c.5238C= n.3401C= c.5311C= (p.His1771=) n.4132C= n.2569C= n.2540C= n.2430C= c.4972C= (p.His1658=) c.*4484C= (n.*4484C=) c.5008C= (p.His1670=) n.3040C= c.1499C= n.2432C= c.5371C= (p.His1791=) c.5368C= (p.His1790=) c.5260C= (p.His1754=) c.5239C= (p.His1747=) c.4585C= (p.His1529=) c.5533C= (p.His1845=) c.5281C= (p.His1761=) c.4027C= (p.His1343=) | |
16 | g.2088503C>G | CA394315463 | TSC2 | c.*3666C>G (n.*3666C>G) c.5164C>G (p.His1722Asp) c.5314C>G (p.His1772Asp) c.*5830C>G (n.*5830C>G) c.*8066C>G (n.*8066C>G) c.5317C>G (p.His1773Asp) c.5248C>G (p.His1750Asp) c.5116C>G (p.His1706Asp) c.5149C>G (p.His1717Asp) c.1540C>G n.3199C>G c.3971C>G c.5176C>G (p.His1726Asp) n.914C>G c.5119C>G (p.His1707Asp) c.5185C>G (p.His1729Asp) c.5110C>G (p.His1704Asp) n.2965C>G c.5242C>G (p.His1748Asp) c.5188C>G (p.His1730Asp) c.5203C>G (p.His1735Asp) c.5113C>G (p.His1705Asp) c.5238C>G n.3401C>G c.5311C>G (p.His1771Asp) n.4132C>G n.2569C>G n.2540C>G n.2430C>G c.4972C>G (p.His1658Asp) c.*4484C>G (n.*4484C>G) c.5008C>G (p.His1670Asp) n.3040C>G c.1499C>G n.2432C>G c.5371C>G (p.His1791Asp) c.5368C>G (p.His1790Asp) c.5260C>G (p.His1754Asp) c.5239C>G (p.His1747Asp) c.4585C>G (p.His1529Asp) c.5533C>G (p.His1845Asp) c.5281C>G (p.His1761Asp) c.4027C>G (p.His1343Asp) | gnomAD v4 |
16 | g.2088503C>T | CA276759978 | TSC2 | c.*3666C>T (n.*3666C>T) c.5164C>T (p.His1722Tyr) c.5314C>T (p.His1772Tyr) c.*5830C>T (n.*5830C>T) c.*8066C>T (n.*8066C>T) c.5317C>T (p.His1773Tyr) c.5248C>T (p.His1750Tyr) c.5116C>T (p.His1706Tyr) c.5149C>T (p.His1717Tyr) c.1540C>T n.3199C>T c.3971C>T c.5176C>T (p.His1726Tyr) n.914C>T c.5119C>T (p.His1707Tyr) c.5185C>T (p.His1729Tyr) c.5110C>T (p.His1704Tyr) n.2965C>T c.5242C>T (p.His1748Tyr) c.5188C>T (p.His1730Tyr) c.5203C>T (p.His1735Tyr) c.5113C>T (p.His1705Tyr) c.5238C>T n.3401C>T c.5311C>T (p.His1771Tyr) n.4132C>T n.2569C>T n.2540C>T n.2430C>T c.4972C>T (p.His1658Tyr) c.*4484C>T (n.*4484C>T) c.5008C>T (p.His1670Tyr) n.3040C>T c.1499C>T n.2432C>T c.5371C>T (p.His1791Tyr) c.5368C>T (p.His1790Tyr) c.5260C>T (p.His1754Tyr) c.5239C>T (p.His1747Tyr) c.4585C>T (p.His1529Tyr) c.5533C>T (p.His1845Tyr) c.5281C>T (p.His1761Tyr) c.4027C>T (p.His1343Tyr) | ClinVar dbSNP |
16 | g.2088503_2088504insTTTTTTTTTTAATG | CA2805573957 | TSC2 | c.*3666_*3667insTTTTTTTTTTAATG (n.*3666_*3667insTTTTTTTTTTAATG) c.5164_5165insTTTTTTTTTTAATG (p.His1722LeufsTer?) c.5314_5315insTTTTTTTTTTAATG (p.His1772LeufsTer?) c.*5830_*5831insTTTTTTTTTTAATG (n.*5830_*5831insTTTTTTTTTTAATG) c.*8066_*8067insTTTTTTTTTTAATG (n.*8066_*8067insTTTTTTTTTTAATG) c.5317_5318insTTTTTTTTTTAATG (p.His1773LeufsTer?) c.5248_5249insTTTTTTTTTTAATG (p.His1750LeufsTer?) c.5116_5117insTTTTTTTTTTAATG (p.His1706LeufsTer?) c.5149_5150insTTTTTTTTTTAATG (p.His1717LeufsTer?) c.1540_1541insTTTTTTTTTTAATG n.3199_3200insTTTTTTTTTTAATG c.3971_3972insTTTTTTTTTTAATG c.5176_5177insTTTTTTTTTTAATG (p.His1726LeufsTer?) n.914_915insTTTTTTTTTTAATG c.5119_5120insTTTTTTTTTTAATG (p.His1707LeufsTer?) c.5185_5186insTTTTTTTTTTAATG (p.His1729LeufsTer?) c.5110_5111insTTTTTTTTTTAATG (p.His1704LeufsTer?) n.2965_2966insTTTTTTTTTTAATG c.5242_5243insTTTTTTTTTTAATG (p.His1748LeufsTer?) c.5188_5189insTTTTTTTTTTAATG (p.His1730LeufsTer?) c.5203_5204insTTTTTTTTTTAATG (p.His1735LeufsTer?) c.5113_5114insTTTTTTTTTTAATG (p.His1705LeufsTer?) c.5238_5239insTTTTTTTTTTAATG n.3401_3402insTTTTTTTTTTAATG c.5311_5312insTTTTTTTTTTAATG (p.His1771LeufsTer?) n.4132_4133insTTTTTTTTTTAATG n.2569_2570insTTTTTTTTTTAATG n.2540_2541insTTTTTTTTTTAATG n.2430_2431insTTTTTTTTTTAATG c.4972_4973insTTTTTTTTTTAATG (p.His1658LeufsTer?) c.*4484_*4485insTTTTTTTTTTAATG (n.*4484_*4485insTTTTTTTTTTAATG) c.5008_5009insTTTTTTTTTTAATG (p.His1670LeufsTer?) n.3040_3041insTTTTTTTTTTAATG c.1499_1500insTTTTTTTTTTAATG n.2432_2433insTTTTTTTTTTAATG c.5371_5372insTTTTTTTTTTAATG (p.His1791LeufsTer?) c.5368_5369insTTTTTTTTTTAATG (p.His1790LeufsTer?) c.5260_5261insTTTTTTTTTTAATG (p.His1754LeufsTer?) c.5239_5240insTTTTTTTTTTAATG (p.His1747LeufsTer?) c.4585_4586insTTTTTTTTTTAATG (p.His1529LeufsTer?) c.5533_5534insTTTTTTTTTTAATG (p.His1845LeufsTer?) c.5281_5282insTTTTTTTTTTAATG (p.His1761LeufsTer?) c.4027_4028insTTTTTTTTTTAATG (p.His1343LeufsTer?) | |
16 | g.2088504A= | CA2202033768 | TSC2 | c.*3667A= (n.*3667A=) c.5165A= (p.His1722=) c.5315A= (p.His1772=) c.*5831A= (n.*5831A=) c.*8067A= (n.*8067A=) c.5318A= (p.His1773=) c.5249A= (p.His1750=) c.5117A= (p.His1706=) c.5150A= (p.His1717=) c.1541A= n.3200A= c.3972A= c.5177A= (p.His1726=) n.915A= c.5120A= (p.His1707=) c.5186A= (p.His1729=) c.5111A= (p.His1704=) n.2966A= c.5243A= (p.His1748=) c.5189A= (p.His1730=) c.5204A= (p.His1735=) c.5114A= (p.His1705=) c.5239A= n.3402A= c.5312A= (p.His1771=) n.4133A= n.2570A= n.2541A= n.2431A= c.4973A= (p.His1658=) c.*4485A= (n.*4485A=) c.5009A= (p.His1670=) n.3041A= c.1500A= n.2433A= c.5372A= (p.His1791=) c.5369A= (p.His1790=) c.5261A= (p.His1754=) c.5240A= (p.His1747=) c.4586A= (p.His1529=) c.5534A= (p.His1845=) c.5282A= (p.His1761=) c.4028A= (p.His1343=) | |
16 | g.2088504A>C | CA022386 | TSC2 | c.*3667A>C (n.*3667A>C) c.5165A>C (p.His1722Pro) c.5315A>C (p.His1772Pro) c.*5831A>C (n.*5831A>C) c.*8067A>C (n.*8067A>C) c.5318A>C (p.His1773Pro) c.5249A>C (p.His1750Pro) c.5117A>C (p.His1706Pro) c.5150A>C (p.His1717Pro) c.1541A>C n.3200A>C c.3972A>C c.5177A>C (p.His1726Pro) n.915A>C c.5120A>C (p.His1707Pro) c.5186A>C (p.His1729Pro) c.5111A>C (p.His1704Pro) n.2966A>C c.5243A>C (p.His1748Pro) c.5189A>C (p.His1730Pro) c.5204A>C (p.His1735Pro) c.5114A>C (p.His1705Pro) c.5239A>C n.3402A>C c.5312A>C (p.His1771Pro) n.4133A>C n.2570A>C n.2541A>C n.2431A>C c.4973A>C (p.His1658Pro) c.*4485A>C (n.*4485A>C) c.5009A>C (p.His1670Pro) n.3041A>C c.1500A>C n.2433A>C c.5372A>C (p.His1791Pro) c.5369A>C (p.His1790Pro) c.5261A>C (p.His1754Pro) c.5240A>C (p.His1747Pro) c.4586A>C (p.His1529Pro) c.5534A>C (p.His1845Pro) c.5282A>C (p.His1761Pro) c.4028A>C (p.His1343Pro) | ClinVar dbSNP gnomAD v4 |
16 | g.2088504A>G | CA10583346 | TSC2 | c.*3667A>G (n.*3667A>G) c.5165A>G (p.His1722Arg) c.5315A>G (p.His1772Arg) c.*5831A>G (n.*5831A>G) c.*8067A>G (n.*8067A>G) c.5318A>G (p.His1773Arg) c.5249A>G (p.His1750Arg) c.5117A>G (p.His1706Arg) c.5150A>G (p.His1717Arg) c.1541A>G n.3200A>G c.3972A>G c.5177A>G (p.His1726Arg) n.915A>G c.5120A>G (p.His1707Arg) c.5186A>G (p.His1729Arg) c.5111A>G (p.His1704Arg) n.2966A>G c.5243A>G (p.His1748Arg) c.5189A>G (p.His1730Arg) c.5204A>G (p.His1735Arg) c.5114A>G (p.His1705Arg) c.5239A>G n.3402A>G c.5312A>G (p.His1771Arg) n.4133A>G n.2570A>G n.2541A>G n.2431A>G c.4973A>G (p.His1658Arg) c.*4485A>G (n.*4485A>G) c.5009A>G (p.His1670Arg) n.3041A>G c.1500A>G n.2433A>G c.5372A>G (p.His1791Arg) c.5369A>G (p.His1790Arg) c.5261A>G (p.His1754Arg) c.5240A>G (p.His1747Arg) c.4586A>G (p.His1529Arg) c.5534A>G (p.His1845Arg) c.5282A>G (p.His1761Arg) c.4028A>G (p.His1343Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088504A>T | CA394315477 | TSC2 | c.*3667A>T (n.*3667A>T) c.5165A>T (p.His1722Leu) c.5315A>T (p.His1772Leu) c.*5831A>T (n.*5831A>T) c.*8067A>T (n.*8067A>T) c.5318A>T (p.His1773Leu) c.5249A>T (p.His1750Leu) c.5117A>T (p.His1706Leu) c.5150A>T (p.His1717Leu) c.1541A>T n.3200A>T c.3972A>T c.5177A>T (p.His1726Leu) n.915A>T c.5120A>T (p.His1707Leu) c.5186A>T (p.His1729Leu) c.5111A>T (p.His1704Leu) n.2966A>T c.5243A>T (p.His1748Leu) c.5189A>T (p.His1730Leu) c.5204A>T (p.His1735Leu) c.5114A>T (p.His1705Leu) c.5239A>T n.3402A>T c.5312A>T (p.His1771Leu) n.4133A>T n.2570A>T n.2541A>T n.2431A>T c.4973A>T (p.His1658Leu) c.*4485A>T (n.*4485A>T) c.5009A>T (p.His1670Leu) n.3041A>T c.1500A>T n.2433A>T c.5372A>T (p.His1791Leu) c.5369A>T (p.His1790Leu) c.5261A>T (p.His1754Leu) c.5240A>T (p.His1747Leu) c.4586A>T (p.His1529Leu) c.5534A>T (p.His1845Leu) c.5282A>T (p.His1761Leu) c.4028A>T (p.His1343Leu) | ClinVar dbSNP |
16 | g.2088505T>A | CA394315491 | TSC2 | c.*3668T>A (n.*3668T>A) c.5166T>A (p.His1722Gln) c.5316T>A (p.His1772Gln) c.*5832T>A (n.*5832T>A) c.*8068T>A (n.*8068T>A) c.5319T>A (p.His1773Gln) c.5250T>A (p.His1750Gln) c.5118T>A (p.His1706Gln) c.5151T>A (p.His1717Gln) c.1542T>A n.3201T>A c.3973T>A c.5178T>A (p.His1726Gln) n.916T>A c.5121T>A (p.His1707Gln) c.5187T>A (p.His1729Gln) c.5112T>A (p.His1704Gln) n.2967T>A c.5244T>A (p.His1748Gln) c.5190T>A (p.His1730Gln) c.5205T>A (p.His1735Gln) c.5115T>A (p.His1705Gln) c.5240T>A n.3403T>A c.5313T>A (p.His1771Gln) n.4134T>A n.2571T>A n.2542T>A n.2432T>A c.4974T>A (p.His1658Gln) c.*4486T>A (n.*4486T>A) c.5010T>A (p.His1670Gln) n.3042T>A c.1501T>A n.2434T>A c.5373T>A (p.His1791Gln) c.5370T>A (p.His1790Gln) c.5262T>A (p.His1754Gln) c.5241T>A (p.His1747Gln) c.4587T>A (p.His1529Gln) c.5535T>A (p.His1845Gln) c.5283T>A (p.His1761Gln) c.4029T>A (p.His1343Gln) | dbSNP |
16 | g.2088505T>C | CA055081 | TSC2 | c.*3668T>C (n.*3668T>C) c.5166T>C (p.His1722=) c.5316T>C (p.His1772=) c.*5832T>C (n.*5832T>C) c.*8068T>C (n.*8068T>C) c.5319T>C (p.His1773=) c.5250T>C (p.His1750=) c.5118T>C (p.His1706=) c.5151T>C (p.His1717=) c.1542T>C n.3201T>C c.3973T>C c.5178T>C (p.His1726=) n.916T>C c.5121T>C (p.His1707=) c.5187T>C (p.His1729=) c.5112T>C (p.His1704=) n.2967T>C c.5244T>C (p.His1748=) c.5190T>C (p.His1730=) c.5205T>C (p.His1735=) c.5115T>C (p.His1705=) c.5240T>C n.3403T>C c.5313T>C (p.His1771=) n.4134T>C n.2571T>C n.2542T>C n.2432T>C c.4974T>C (p.His1658=) c.*4486T>C (n.*4486T>C) c.5010T>C (p.His1670=) n.3042T>C c.1501T>C n.2434T>C c.5373T>C (p.His1791=) c.5370T>C (p.His1790=) c.5262T>C (p.His1754=) c.5241T>C (p.His1747=) c.4587T>C (p.His1529=) c.5535T>C (p.His1845=) c.5283T>C (p.His1761=) c.4029T>C (p.His1343=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088505T>G | CA394315481 | TSC2 | c.*3668T>G (n.*3668T>G) c.5166T>G (p.His1722Gln) c.5316T>G (p.His1772Gln) c.*5832T>G (n.*5832T>G) c.*8068T>G (n.*8068T>G) c.5319T>G (p.His1773Gln) c.5250T>G (p.His1750Gln) c.5118T>G (p.His1706Gln) c.5151T>G (p.His1717Gln) c.1542T>G n.3201T>G c.3973T>G c.5178T>G (p.His1726Gln) n.916T>G c.5121T>G (p.His1707Gln) c.5187T>G (p.His1729Gln) c.5112T>G (p.His1704Gln) n.2967T>G c.5244T>G (p.His1748Gln) c.5190T>G (p.His1730Gln) c.5205T>G (p.His1735Gln) c.5115T>G (p.His1705Gln) c.5240T>G n.3403T>G c.5313T>G (p.His1771Gln) n.4134T>G n.2571T>G n.2542T>G n.2432T>G c.4974T>G (p.His1658Gln) c.*4486T>G (n.*4486T>G) c.5010T>G (p.His1670Gln) n.3042T>G c.1501T>G n.2434T>G c.5373T>G (p.His1791Gln) c.5370T>G (p.His1790Gln) c.5262T>G (p.His1754Gln) c.5241T>G (p.His1747Gln) c.4587T>G (p.His1529Gln) c.5535T>G (p.His1845Gln) c.5283T>G (p.His1761Gln) c.4029T>G (p.His1343Gln) | |
16 | g.2088505T= | CA2202033777 | TSC2 | c.*3668T= (n.*3668T=) c.5166T= (p.His1722=) c.5316T= (p.His1772=) c.*5832T= (n.*5832T=) c.*8068T= (n.*8068T=) c.5319T= (p.His1773=) c.5250T= (p.His1750=) c.5118T= (p.His1706=) c.5151T= (p.His1717=) c.1542T= n.3201T= c.3973T= c.5178T= (p.His1726=) n.916T= c.5121T= (p.His1707=) c.5187T= (p.His1729=) c.5112T= (p.His1704=) n.2967T= c.5244T= (p.His1748=) c.5190T= (p.His1730=) c.5205T= (p.His1735=) c.5115T= (p.His1705=) c.5240T= n.3403T= c.5313T= (p.His1771=) n.4134T= n.2571T= n.2542T= n.2432T= c.4974T= (p.His1658=) c.*4486T= (n.*4486T=) c.5010T= (p.His1670=) n.3042T= c.1501T= n.2434T= c.5373T= (p.His1791=) c.5370T= (p.His1790=) c.5262T= (p.His1754=) c.5241T= (p.His1747=) c.4587T= (p.His1529=) c.5535T= (p.His1845=) c.5283T= (p.His1761=) c.4029T= (p.His1343=) | |
16 | g.2088505_2088512delinsTAGCAAAG | CA2202033780 | TSC2 | c.*3668_*3675delinsTAGCAAAG (n.*3668_*3675delinsTAGCAAAG) c.5166_5173delinsTAGCAAAG (p.His1722=) c.5316_5323delinsTAGCAAAG (p.His1772=) c.*5832_*5839delinsTAGCAAAG (n.*5832_*5839delinsTAGCAAAG) c.*8068_*8075delinsTAGCAAAG (n.*8068_*8075delinsTAGCAAAG) c.5319_5326delinsTAGCAAAG (p.His1773=) c.5250_5257delinsTAGCAAAG (p.His1750=) c.5118_5125delinsTAGCAAAG (p.His1706=) c.5151_5158delinsTAGCAAAG (p.His1717=) c.1542_1549delinsTAGCAAAG n.3201_3208delinsTAGCAAAG c.3973_3980delinsTAGCAAAG c.5178_5185delinsTAGCAAAG (p.His1726=) n.916_923delinsTAGCAAAG c.5121_5128delinsTAGCAAAG (p.His1707=) c.5187_5194delinsTAGCAAAG (p.His1729=) c.5112_5119delinsTAGCAAAG (p.His1704=) n.2967_2974delinsTAGCAAAG c.5244_5251delinsTAGCAAAG (p.His1748=) c.5190_5197delinsTAGCAAAG (p.His1730=) c.5205_5212delinsTAGCAAAG (p.His1735=) c.5115_5122delinsTAGCAAAG (p.His1705=) c.5240_5247delinsTAGCAAAG n.3403_3410delinsTAGCAAAG c.5313_5320delinsTAGCAAAG (p.His1771=) n.4134_4141delinsTAGCAAAG n.2571_2578delinsTAGCAAAG n.2542_2549delinsTAGCAAAG n.2432_2439delinsTAGCAAAG c.4974_4981delinsTAGCAAAG (p.His1658=) c.*4486_*4493delinsTAGCAAAG (n.*4486_*4493delinsTAGCAAAG) c.5010_5017delinsTAGCAAAG (p.His1670=) n.3042_3049delinsTAGCAAAG c.1501_1508delinsTAGCAAAG n.2434_2441delinsTAGCAAAG c.5373_5380delinsTAGCAAAG (p.His1791=) c.5370_5377delinsTAGCAAAG (p.His1790=) c.5262_5269delinsTAGCAAAG (p.His1754=) c.5241_5248delinsTAGCAAAG (p.His1747=) c.4587_4594delinsTAGCAAAG (p.His1529=) c.5535_5542delinsTAGCAAAG (p.His1845=) c.5283_5290delinsTAGCAAAG (p.His1761=) c.4029_4036delinsTAGCAAAG (p.His1343=) | |
16 | g.2088506A= | CA2202033792 | TSC2 | c.*3669A= (n.*3669A=) c.5167A= (p.Ser1723=) c.5317A= (p.Ser1773=) c.*5833A= (n.*5833A=) c.*8069A= (n.*8069A=) c.5320A= (p.Ser1774=) c.5251A= (p.Ser1751=) c.5119A= (p.Ser1707=) c.5152A= (p.Ser1718=) c.1543A= n.3202A= c.3974A= c.5179A= (p.Ser1727=) n.917A= c.5122A= (p.Ser1708=) c.5188A= (p.Ser1730=) c.5113A= (p.Ser1705=) n.2968A= c.5245A= (p.Ser1749=) c.5191A= (p.Ser1731=) c.5206A= (p.Ser1736=) c.5116A= (p.Ser1706=) c.5241A= n.3404A= c.5314A= (p.Ser1772=) n.4135A= n.2572A= n.2543A= n.2433A= c.4975A= (p.Ser1659=) c.*4487A= (n.*4487A=) c.5011A= (p.Ser1671=) n.3043A= c.1502A= n.2435A= c.5374A= (p.Ser1792=) c.5371A= (p.Ser1791=) c.5263A= (p.Ser1755=) c.5242A= (p.Ser1748=) c.4588A= (p.Ser1530=) c.5536A= (p.Ser1846=) c.5284A= (p.Ser1762=) c.4030A= (p.Ser1344=) | |
16 | g.2088506A>C | CA394315492 | TSC2 | c.*3669A>C (n.*3669A>C) c.5167A>C (p.Ser1723Arg) c.5317A>C (p.Ser1773Arg) c.*5833A>C (n.*5833A>C) c.*8069A>C (n.*8069A>C) c.5320A>C (p.Ser1774Arg) c.5251A>C (p.Ser1751Arg) c.5119A>C (p.Ser1707Arg) c.5152A>C (p.Ser1718Arg) c.1543A>C n.3202A>C c.3974A>C c.5179A>C (p.Ser1727Arg) n.917A>C c.5122A>C (p.Ser1708Arg) c.5188A>C (p.Ser1730Arg) c.5113A>C (p.Ser1705Arg) n.2968A>C c.5245A>C (p.Ser1749Arg) c.5191A>C (p.Ser1731Arg) c.5206A>C (p.Ser1736Arg) c.5116A>C (p.Ser1706Arg) c.5241A>C n.3404A>C c.5314A>C (p.Ser1772Arg) n.4135A>C n.2572A>C n.2543A>C n.2433A>C c.4975A>C (p.Ser1659Arg) c.*4487A>C (n.*4487A>C) c.5011A>C (p.Ser1671Arg) n.3043A>C c.1502A>C n.2435A>C c.5374A>C (p.Ser1792Arg) c.5371A>C (p.Ser1791Arg) c.5263A>C (p.Ser1755Arg) c.5242A>C (p.Ser1748Arg) c.4588A>C (p.Ser1530Arg) c.5536A>C (p.Ser1846Arg) c.5284A>C (p.Ser1762Arg) c.4030A>C (p.Ser1344Arg) | ClinVar |
16 | g.2088506A>G | CA055089 | TSC2 | c.*3669A>G (n.*3669A>G) c.5167A>G (p.Ser1723Gly) c.5317A>G (p.Ser1773Gly) c.*5833A>G (n.*5833A>G) c.*8069A>G (n.*8069A>G) c.5320A>G (p.Ser1774Gly) c.5251A>G (p.Ser1751Gly) c.5119A>G (p.Ser1707Gly) c.5152A>G (p.Ser1718Gly) c.1543A>G n.3202A>G c.3974A>G c.5179A>G (p.Ser1727Gly) n.917A>G c.5122A>G (p.Ser1708Gly) c.5188A>G (p.Ser1730Gly) c.5113A>G (p.Ser1705Gly) n.2968A>G c.5245A>G (p.Ser1749Gly) c.5191A>G (p.Ser1731Gly) c.5206A>G (p.Ser1736Gly) c.5116A>G (p.Ser1706Gly) c.5241A>G n.3404A>G c.5314A>G (p.Ser1772Gly) n.4135A>G n.2572A>G n.2543A>G n.2433A>G c.4975A>G (p.Ser1659Gly) c.*4487A>G (n.*4487A>G) c.5011A>G (p.Ser1671Gly) n.3043A>G c.1502A>G n.2435A>G c.5374A>G (p.Ser1792Gly) c.5371A>G (p.Ser1791Gly) c.5263A>G (p.Ser1755Gly) c.5242A>G (p.Ser1748Gly) c.4588A>G (p.Ser1530Gly) c.5536A>G (p.Ser1846Gly) c.5284A>G (p.Ser1762Gly) c.4030A>G (p.Ser1344Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088506A>T | CA394315493 | TSC2 | c.*3669A>T (n.*3669A>T) c.5167A>T (p.Ser1723Cys) c.5317A>T (p.Ser1773Cys) c.*5833A>T (n.*5833A>T) c.*8069A>T (n.*8069A>T) c.5320A>T (p.Ser1774Cys) c.5251A>T (p.Ser1751Cys) c.5119A>T (p.Ser1707Cys) c.5152A>T (p.Ser1718Cys) c.1543A>T n.3202A>T c.3974A>T c.5179A>T (p.Ser1727Cys) n.917A>T c.5122A>T (p.Ser1708Cys) c.5188A>T (p.Ser1730Cys) c.5113A>T (p.Ser1705Cys) n.2968A>T c.5245A>T (p.Ser1749Cys) c.5191A>T (p.Ser1731Cys) c.5206A>T (p.Ser1736Cys) c.5116A>T (p.Ser1706Cys) c.5241A>T n.3404A>T c.5314A>T (p.Ser1772Cys) n.4135A>T n.2572A>T n.2543A>T n.2433A>T c.4975A>T (p.Ser1659Cys) c.*4487A>T (n.*4487A>T) c.5011A>T (p.Ser1671Cys) n.3043A>T c.1502A>T n.2435A>T c.5374A>T (p.Ser1792Cys) c.5371A>T (p.Ser1791Cys) c.5263A>T (p.Ser1755Cys) c.5242A>T (p.Ser1748Cys) c.4588A>T (p.Ser1530Cys) c.5536A>T (p.Ser1846Cys) c.5284A>T (p.Ser1762Cys) c.4030A>T (p.Ser1344Cys) | |
16 | g.2088506_2088512del | CA916081803 | TSC2 | c.*3669_*3675del (n.*3669_*3675del) c.5167_5173del (p.Ser1723ProfsTer?) c.5317_5323del (p.Ser1773ProfsTer?) c.*5833_*5839del (n.*5833_*5839del) c.*8069_*8075del (n.*8069_*8075del) c.5320_5326del (p.Ser1774ProfsTer?) c.5251_5257del (p.Ser1751ProfsTer?) c.5119_5125del (p.Ser1707ProfsTer?) c.5152_5158del (p.Ser1718ProfsTer?) c.1543_1549del n.3202_3208del c.3974_3980del c.5179_5185del (p.Ser1727ProfsTer?) n.917_923del c.5122_5128del (p.Ser1708ProfsTer?) c.5188_5194del (p.Ser1730ProfsTer?) c.5113_5119del (p.Ser1705ProfsTer?) n.2968_2974del c.5245_5251del (p.Ser1749ProfsTer?) c.5191_5197del (p.Ser1731ProfsTer?) c.5206_5212del (p.Ser1736ProfsTer?) c.5116_5122del (p.Ser1706ProfsTer?) c.5241_5247del n.3404_3410del c.5314_5320del (p.Ser1772ProfsTer?) n.4135_4141del n.2572_2578del n.2543_2549del n.2433_2439del c.4975_4981del (p.Ser1659ProfsTer?) c.*4487_*4493del (n.*4487_*4493del) c.5011_5017del (p.Ser1671ProfsTer?) n.3043_3049del c.1502_1508del n.2435_2441del c.5374_5380del (p.Ser1792ProfsTer?) c.5371_5377del (p.Ser1791ProfsTer?) c.5263_5269del (p.Ser1755ProfsTer?) c.5242_5248del (p.Ser1748ProfsTer?) c.4588_4594del (p.Ser1530ProfsTer?) c.5536_5542del (p.Ser1846ProfsTer?) c.5284_5290del (p.Ser1762ProfsTer?) c.4030_4036del (p.Ser1344ProfsTer?) | ClinVar dbSNP |
16 | g.2088507G>A | CA394315498 | TSC2 | c.*3670G>A (n.*3670G>A) c.5168G>A (p.Ser1723Asn) c.5318G>A (p.Ser1773Asn) c.*5834G>A (n.*5834G>A) c.*8070G>A (n.*8070G>A) c.5321G>A (p.Ser1774Asn) c.5252G>A (p.Ser1751Asn) c.5120G>A (p.Ser1707Asn) c.5153G>A (p.Ser1718Asn) c.1544G>A n.3203G>A c.3975G>A c.5180G>A (p.Ser1727Asn) n.918G>A c.5123G>A (p.Ser1708Asn) c.5189G>A (p.Ser1730Asn) c.5114G>A (p.Ser1705Asn) n.2969G>A c.5246G>A (p.Ser1749Asn) c.5192G>A (p.Ser1731Asn) c.5207G>A (p.Ser1736Asn) c.5117G>A (p.Ser1706Asn) c.5242G>A n.3405G>A c.5315G>A (p.Ser1772Asn) n.4136G>A n.2573G>A n.2544G>A n.2434G>A c.4976G>A (p.Ser1659Asn) c.*4488G>A (n.*4488G>A) c.5012G>A (p.Ser1671Asn) n.3044G>A c.1503G>A n.2436G>A c.5375G>A (p.Ser1792Asn) c.5372G>A (p.Ser1791Asn) c.5264G>A (p.Ser1755Asn) c.5243G>A (p.Ser1748Asn) c.4589G>A (p.Ser1530Asn) c.5537G>A (p.Ser1846Asn) c.5285G>A (p.Ser1762Asn) c.4031G>A (p.Ser1344Asn) | gnomAD v4 |
16 | g.2088507G>C | CA022390 | TSC2 | c.*3670G>C (n.*3670G>C) c.5168G>C (p.Ser1723Thr) c.5318G>C (p.Ser1773Thr) c.*5834G>C (n.*5834G>C) c.*8070G>C (n.*8070G>C) c.5321G>C (p.Ser1774Thr) c.5252G>C (p.Ser1751Thr) c.5120G>C (p.Ser1707Thr) c.5153G>C (p.Ser1718Thr) c.1544G>C n.3203G>C c.3975G>C c.5180G>C (p.Ser1727Thr) n.918G>C c.5123G>C (p.Ser1708Thr) c.5189G>C (p.Ser1730Thr) c.5114G>C (p.Ser1705Thr) n.2969G>C c.5246G>C (p.Ser1749Thr) c.5192G>C (p.Ser1731Thr) c.5207G>C (p.Ser1736Thr) c.5117G>C (p.Ser1706Thr) c.5242G>C n.3405G>C c.5315G>C (p.Ser1772Thr) n.4136G>C n.2573G>C n.2544G>C n.2434G>C c.4976G>C (p.Ser1659Thr) c.*4488G>C (n.*4488G>C) c.5012G>C (p.Ser1671Thr) n.3044G>C c.1503G>C n.2436G>C c.5375G>C (p.Ser1792Thr) c.5372G>C (p.Ser1791Thr) c.5264G>C (p.Ser1755Thr) c.5243G>C (p.Ser1748Thr) c.4589G>C (p.Ser1530Thr) c.5537G>C (p.Ser1846Thr) c.5285G>C (p.Ser1762Thr) c.4031G>C (p.Ser1344Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088507G= | CA2202033797 | TSC2 | c.*3670G= (n.*3670G=) c.5168G= (p.Ser1723=) c.5318G= (p.Ser1773=) c.*5834G= (n.*5834G=) c.*8070G= (n.*8070G=) c.5321G= (p.Ser1774=) c.5252G= (p.Ser1751=) c.5120G= (p.Ser1707=) c.5153G= (p.Ser1718=) c.1544G= n.3203G= c.3975G= c.5180G= (p.Ser1727=) n.918G= c.5123G= (p.Ser1708=) c.5189G= (p.Ser1730=) c.5114G= (p.Ser1705=) n.2969G= c.5246G= (p.Ser1749=) c.5192G= (p.Ser1731=) c.5207G= (p.Ser1736=) c.5117G= (p.Ser1706=) c.5242G= n.3405G= c.5315G= (p.Ser1772=) n.4136G= n.2573G= n.2544G= n.2434G= c.4976G= (p.Ser1659=) c.*4488G= (n.*4488G=) c.5012G= (p.Ser1671=) n.3044G= c.1503G= n.2436G= c.5375G= (p.Ser1792=) c.5372G= (p.Ser1791=) c.5264G= (p.Ser1755=) c.5243G= (p.Ser1748=) c.4589G= (p.Ser1530=) c.5537G= (p.Ser1846=) c.5285G= (p.Ser1762=) c.4031G= (p.Ser1344=) | |
16 | g.2088507G>T | CA394315512 | TSC2 | c.*3670G>T (n.*3670G>T) c.5168G>T (p.Ser1723Ile) c.5318G>T (p.Ser1773Ile) c.*5834G>T (n.*5834G>T) c.*8070G>T (n.*8070G>T) c.5321G>T (p.Ser1774Ile) c.5252G>T (p.Ser1751Ile) c.5120G>T (p.Ser1707Ile) c.5153G>T (p.Ser1718Ile) c.1544G>T n.3203G>T c.3975G>T c.5180G>T (p.Ser1727Ile) n.918G>T c.5123G>T (p.Ser1708Ile) c.5189G>T (p.Ser1730Ile) c.5114G>T (p.Ser1705Ile) n.2969G>T c.5246G>T (p.Ser1749Ile) c.5192G>T (p.Ser1731Ile) c.5207G>T (p.Ser1736Ile) c.5117G>T (p.Ser1706Ile) c.5242G>T n.3405G>T c.5315G>T (p.Ser1772Ile) n.4136G>T n.2573G>T n.2544G>T n.2434G>T c.4976G>T (p.Ser1659Ile) c.*4488G>T (n.*4488G>T) c.5012G>T (p.Ser1671Ile) n.3044G>T c.1503G>T n.2436G>T c.5375G>T (p.Ser1792Ile) c.5372G>T (p.Ser1791Ile) c.5264G>T (p.Ser1755Ile) c.5243G>T (p.Ser1748Ile) c.4589G>T (p.Ser1530Ile) c.5537G>T (p.Ser1846Ile) c.5285G>T (p.Ser1762Ile) c.4031G>T (p.Ser1344Ile) | ClinVar |
16 | g.2088507_2088515del | CA2631119489 | TSC2 | c.*3670_*3678del (n.*3670_*3678del) c.5168_5176del (p.Ser1723_Pro1726delinsThr) c.5318_5326del (p.Ser1773_Pro1776delinsThr) c.*5834_*5842del (n.*5834_*5842del) c.*8070_*8078del (n.*8070_*8078del) c.5321_5329del (p.Ser1774_Pro1777delinsThr) c.5252_5260del (p.Ser1751_Pro1754delinsThr) c.5120_5128del (p.Ser1707_Pro1710delinsThr) c.5153_5161del (p.Ser1718_Pro1721delinsThr) c.1544_1552del n.3203_3211del c.3975_3983del c.5180_5188del (p.Ser1727_Pro1730delinsThr) n.918_926del c.5123_5131del (p.Ser1708_Pro1711delinsThr) c.5189_5197del (p.Ser1730_Pro1733delinsThr) c.5114_5122del (p.Ser1705_Pro1708delinsThr) n.2969_2977del c.5246_5254del (p.Ser1749_Pro1752delinsThr) c.5192_5200del (p.Ser1731_Pro1734delinsThr) c.5207_5215del (p.Ser1736_Pro1739delinsThr) c.5117_5125del (p.Ser1706_Pro1709delinsThr) c.5242_5250del n.3405_3413del c.5315_5323del (p.Ser1772_Pro1775delinsThr) n.4136_4144del n.2573_2581del n.2544_2552del n.2434_2442del c.4976_4984del (p.Ser1659_Pro1662delinsThr) c.*4488_*4496del (n.*4488_*4496del) c.5012_5020del (p.Ser1671_Pro1674delinsThr) n.3044_3052del c.1503_1511del n.2436_2444del c.5375_5383del (p.Ser1792_Pro1795delinsThr) c.5372_5380del (p.Ser1791_Pro1794delinsThr) c.5264_5272del (p.Ser1755_Pro1758delinsThr) c.5243_5251del (p.Ser1748_Pro1751delinsThr) c.4589_4597del (p.Ser1530_Pro1533delinsThr) c.5537_5545del (p.Ser1846_Pro1849delinsThr) c.5285_5293del (p.Ser1762_Pro1765delinsThr) c.4031_4039del (p.Ser1344_Pro1347delinsThr) | gnomAD v4 |
16 | g.2088507_2088508insTTTTT | CA2631119492 | TSC2 | c.*3670_*3671insTTTTT (n.*3670_*3671insTTTTT) c.5168_5169insTTTTT (p.Lys1724PhefsTer?) c.5318_5319insTTTTT (p.Lys1774PhefsTer?) c.*5834_*5835insTTTTT (n.*5834_*5835insTTTTT) c.*8070_*8071insTTTTT (n.*8070_*8071insTTTTT) c.5321_5322insTTTTT (p.Lys1775PhefsTer?) c.5252_5253insTTTTT (p.Lys1752PhefsTer?) c.5120_5121insTTTTT (p.Lys1708PhefsTer?) c.5153_5154insTTTTT (p.Lys1719PhefsTer?) c.1544_1545insTTTTT n.3203_3204insTTTTT c.3975_3976insTTTTT c.5180_5181insTTTTT (p.Lys1728PhefsTer?) n.918_919insTTTTT c.5123_5124insTTTTT (p.Lys1709PhefsTer?) c.5189_5190insTTTTT (p.Lys1731PhefsTer?) c.5114_5115insTTTTT (p.Lys1706PhefsTer?) n.2969_2970insTTTTT c.5246_5247insTTTTT (p.Lys1750PhefsTer?) c.5192_5193insTTTTT (p.Lys1732PhefsTer?) c.5207_5208insTTTTT (p.Lys1737PhefsTer?) c.5117_5118insTTTTT (p.Lys1707PhefsTer?) c.5242_5243insTTTTT n.3405_3406insTTTTT c.5315_5316insTTTTT (p.Lys1773PhefsTer?) n.4136_4137insTTTTT n.2573_2574insTTTTT n.2544_2545insTTTTT n.2434_2435insTTTTT c.4976_4977insTTTTT (p.Lys1660PhefsTer?) c.*4488_*4489insTTTTT (n.*4488_*4489insTTTTT) c.5012_5013insTTTTT (p.Lys1672PhefsTer?) n.3044_3045insTTTTT c.1503_1504insTTTTT n.2436_2437insTTTTT c.5375_5376insTTTTT (p.Lys1793PhefsTer?) c.5372_5373insTTTTT (p.Lys1792PhefsTer?) c.5264_5265insTTTTT (p.Lys1756PhefsTer?) c.5243_5244insTTTTT (p.Lys1749PhefsTer?) c.4589_4590insTTTTT (p.Lys1531PhefsTer?) c.5537_5538insTTTTT (p.Lys1847PhefsTer?) c.5285_5286insTTTTT (p.Lys1763PhefsTer?) c.4031_4032insTTTTT (p.Lys1345PhefsTer?) | gnomAD v4 |
16 | g.2088508C>A | CA394315517 | TSC2 | c.*3671C>A (n.*3671C>A) c.5169C>A (p.Ser1723Arg) c.5319C>A (p.Ser1773Arg) c.*5835C>A (n.*5835C>A) c.*8071C>A (n.*8071C>A) c.5322C>A (p.Ser1774Arg) c.5253C>A (p.Ser1751Arg) c.5121C>A (p.Ser1707Arg) c.5154C>A (p.Ser1718Arg) c.1545C>A n.3204C>A c.3976C>A c.5181C>A (p.Ser1727Arg) n.919C>A c.5124C>A (p.Ser1708Arg) c.5190C>A (p.Ser1730Arg) c.5115C>A (p.Ser1705Arg) n.2970C>A c.5247C>A (p.Ser1749Arg) c.5193C>A (p.Ser1731Arg) c.5208C>A (p.Ser1736Arg) c.5118C>A (p.Ser1706Arg) c.5243C>A n.3406C>A c.5316C>A (p.Ser1772Arg) n.4137C>A n.2574C>A n.2545C>A n.2435C>A c.4977C>A (p.Ser1659Arg) c.*4489C>A (n.*4489C>A) c.5013C>A (p.Ser1671Arg) n.3045C>A c.1504C>A n.2437C>A c.5376C>A (p.Ser1792Arg) c.5373C>A (p.Ser1791Arg) c.5265C>A (p.Ser1755Arg) c.5244C>A (p.Ser1748Arg) c.4590C>A (p.Ser1530Arg) c.5538C>A (p.Ser1846Arg) c.5286C>A (p.Ser1762Arg) c.4032C>A (p.Ser1344Arg) | |
16 | g.2088508C= | CA2202033806 | TSC2 | c.*3671C= (n.*3671C=) c.5169C= (p.Ser1723=) c.5319C= (p.Ser1773=) c.*5835C= (n.*5835C=) c.*8071C= (n.*8071C=) c.5322C= (p.Ser1774=) c.5253C= (p.Ser1751=) c.5121C= (p.Ser1707=) c.5154C= (p.Ser1718=) c.1545C= n.3204C= c.3976C= c.5181C= (p.Ser1727=) n.919C= c.5124C= (p.Ser1708=) c.5190C= (p.Ser1730=) c.5115C= (p.Ser1705=) n.2970C= c.5247C= (p.Ser1749=) c.5193C= (p.Ser1731=) c.5208C= (p.Ser1736=) c.5118C= (p.Ser1706=) c.5243C= n.3406C= c.5316C= (p.Ser1772=) n.4137C= n.2574C= n.2545C= n.2435C= c.4977C= (p.Ser1659=) c.*4489C= (n.*4489C=) c.5013C= (p.Ser1671=) n.3045C= c.1504C= n.2437C= c.5376C= (p.Ser1792=) c.5373C= (p.Ser1791=) c.5265C= (p.Ser1755=) c.5244C= (p.Ser1748=) c.4590C= (p.Ser1530=) c.5538C= (p.Ser1846=) c.5286C= (p.Ser1762=) c.4032C= (p.Ser1344=) | |
16 | g.2088508C>G | CA055113 | TSC2 | c.*3671C>G (n.*3671C>G) c.5169C>G (p.Ser1723Arg) c.5319C>G (p.Ser1773Arg) c.*5835C>G (n.*5835C>G) c.*8071C>G (n.*8071C>G) c.5322C>G (p.Ser1774Arg) c.5253C>G (p.Ser1751Arg) c.5121C>G (p.Ser1707Arg) c.5154C>G (p.Ser1718Arg) c.1545C>G n.3204C>G c.3976C>G c.5181C>G (p.Ser1727Arg) n.919C>G c.5124C>G (p.Ser1708Arg) c.5190C>G (p.Ser1730Arg) c.5115C>G (p.Ser1705Arg) n.2970C>G c.5247C>G (p.Ser1749Arg) c.5193C>G (p.Ser1731Arg) c.5208C>G (p.Ser1736Arg) c.5118C>G (p.Ser1706Arg) c.5243C>G n.3406C>G c.5316C>G (p.Ser1772Arg) n.4137C>G n.2574C>G n.2545C>G n.2435C>G c.4977C>G (p.Ser1659Arg) c.*4489C>G (n.*4489C>G) c.5013C>G (p.Ser1671Arg) n.3045C>G c.1504C>G n.2437C>G c.5376C>G (p.Ser1792Arg) c.5373C>G (p.Ser1791Arg) c.5265C>G (p.Ser1755Arg) c.5244C>G (p.Ser1748Arg) c.4590C>G (p.Ser1530Arg) c.5538C>G (p.Ser1846Arg) c.5286C>G (p.Ser1762Arg) c.4032C>G (p.Ser1344Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2088508C>T | CA493043707 | TSC2 | c.*3671C>T (n.*3671C>T) c.5169C>T (p.Ser1723=) c.5319C>T (p.Ser1773=) c.*5835C>T (n.*5835C>T) c.*8071C>T (n.*8071C>T) c.5322C>T (p.Ser1774=) c.5253C>T (p.Ser1751=) c.5121C>T (p.Ser1707=) c.5154C>T (p.Ser1718=) c.1545C>T n.3204C>T c.3976C>T c.5181C>T (p.Ser1727=) n.919C>T c.5124C>T (p.Ser1708=) c.5190C>T (p.Ser1730=) c.5115C>T (p.Ser1705=) n.2970C>T c.5247C>T (p.Ser1749=) c.5193C>T (p.Ser1731=) c.5208C>T (p.Ser1736=) c.5118C>T (p.Ser1706=) c.5243C>T n.3406C>T c.5316C>T (p.Ser1772=) n.4137C>T n.2574C>T n.2545C>T n.2435C>T c.4977C>T (p.Ser1659=) c.*4489C>T (n.*4489C>T) c.5013C>T (p.Ser1671=) n.3045C>T c.1504C>T n.2437C>T c.5376C>T (p.Ser1792=) c.5373C>T (p.Ser1791=) c.5265C>T (p.Ser1755=) c.5244C>T (p.Ser1748=) c.4590C>T (p.Ser1530=) c.5538C>T (p.Ser1846=) c.5286C>T (p.Ser1762=) c.4032C>T (p.Ser1344=) | ClinVar dbSNP gnomAD v4 |
16 | g.2088509A= | CA2202033815 | TSC2 | c.*3672A= (n.*3672A=) c.5170A= (p.Lys1724=) c.5320A= (p.Lys1774=) c.*5836A= (n.*5836A=) c.*8072A= (n.*8072A=) c.5323A= (p.Lys1775=) c.5254A= (p.Lys1752=) c.5122A= (p.Lys1708=) c.5155A= (p.Lys1719=) c.1546A= n.3205A= c.3977A= c.5182A= (p.Lys1728=) n.920A= c.5125A= (p.Lys1709=) c.5191A= (p.Lys1731=) c.5116A= (p.Lys1706=) n.2971A= c.5248A= (p.Lys1750=) c.5194A= (p.Lys1732=) c.5209A= (p.Lys1737=) c.5119A= (p.Lys1707=) c.5244A= n.3407A= c.5317A= (p.Lys1773=) n.4138A= n.2575A= n.2546A= n.2436A= c.4978A= (p.Lys1660=) c.*4490A= (n.*4490A=) c.5014A= (p.Lys1672=) n.3046A= c.1505A= n.2438A= c.5377A= (p.Lys1793=) c.5374A= (p.Lys1792=) c.5266A= (p.Lys1756=) c.5245A= (p.Lys1749=) c.4591A= (p.Lys1531=) c.5539A= (p.Lys1847=) c.5287A= (p.Lys1763=) c.4033A= (p.Lys1345=) | |
16 | g.2088509A>C | CA394315518 | TSC2 | c.*3672A>C (n.*3672A>C) c.5170A>C (p.Lys1724Gln) c.5320A>C (p.Lys1774Gln) c.*5836A>C (n.*5836A>C) c.*8072A>C (n.*8072A>C) c.5323A>C (p.Lys1775Gln) c.5254A>C (p.Lys1752Gln) c.5122A>C (p.Lys1708Gln) c.5155A>C (p.Lys1719Gln) c.1546A>C n.3205A>C c.3977A>C c.5182A>C (p.Lys1728Gln) n.920A>C c.5125A>C (p.Lys1709Gln) c.5191A>C (p.Lys1731Gln) c.5116A>C (p.Lys1706Gln) n.2971A>C c.5248A>C (p.Lys1750Gln) c.5194A>C (p.Lys1732Gln) c.5209A>C (p.Lys1737Gln) c.5119A>C (p.Lys1707Gln) c.5244A>C n.3407A>C c.5317A>C (p.Lys1773Gln) n.4138A>C n.2575A>C n.2546A>C n.2436A>C c.4978A>C (p.Lys1660Gln) c.*4490A>C (n.*4490A>C) c.5014A>C (p.Lys1672Gln) n.3046A>C c.1505A>C n.2438A>C c.5377A>C (p.Lys1793Gln) c.5374A>C (p.Lys1792Gln) c.5266A>C (p.Lys1756Gln) c.5245A>C (p.Lys1749Gln) c.4591A>C (p.Lys1531Gln) c.5539A>C (p.Lys1847Gln) c.5287A>C (p.Lys1763Gln) c.4033A>C (p.Lys1345Gln) | |
16 | g.2088509A>G | CA394315520 | TSC2 | c.*3672A>G (n.*3672A>G) c.5170A>G (p.Lys1724Glu) c.5320A>G (p.Lys1774Glu) c.*5836A>G (n.*5836A>G) c.*8072A>G (n.*8072A>G) c.5323A>G (p.Lys1775Glu) c.5254A>G (p.Lys1752Glu) c.5122A>G (p.Lys1708Glu) c.5155A>G (p.Lys1719Glu) c.1546A>G n.3205A>G c.3977A>G c.5182A>G (p.Lys1728Glu) n.920A>G c.5125A>G (p.Lys1709Glu) c.5191A>G (p.Lys1731Glu) c.5116A>G (p.Lys1706Glu) n.2971A>G c.5248A>G (p.Lys1750Glu) c.5194A>G (p.Lys1732Glu) c.5209A>G (p.Lys1737Glu) c.5119A>G (p.Lys1707Glu) c.5244A>G n.3407A>G c.5317A>G (p.Lys1773Glu) n.4138A>G n.2575A>G n.2546A>G n.2436A>G c.4978A>G (p.Lys1660Glu) c.*4490A>G (n.*4490A>G) c.5014A>G (p.Lys1672Glu) n.3046A>G c.1505A>G n.2438A>G c.5377A>G (p.Lys1793Glu) c.5374A>G (p.Lys1792Glu) c.5266A>G (p.Lys1756Glu) c.5245A>G (p.Lys1749Glu) c.4591A>G (p.Lys1531Glu) c.5539A>G (p.Lys1847Glu) c.5287A>G (p.Lys1763Glu) c.4033A>G (p.Lys1345Glu) | |
16 | g.2088509A>T | CA394315526 | TSC2 | c.*3672A>T (n.*3672A>T) c.5170A>T (p.Lys1724Ter) c.5320A>T (p.Lys1774Ter) c.*5836A>T (n.*5836A>T) c.*8072A>T (n.*8072A>T) c.5323A>T (p.Lys1775Ter) c.5254A>T (p.Lys1752Ter) c.5122A>T (p.Lys1708Ter) c.5155A>T (p.Lys1719Ter) c.1546A>T n.3205A>T c.3977A>T c.5182A>T (p.Lys1728Ter) n.920A>T c.5125A>T (p.Lys1709Ter) c.5191A>T (p.Lys1731Ter) c.5116A>T (p.Lys1706Ter) n.2971A>T c.5248A>T (p.Lys1750Ter) c.5194A>T (p.Lys1732Ter) c.5209A>T (p.Lys1737Ter) c.5119A>T (p.Lys1707Ter) c.5244A>T n.3407A>T c.5317A>T (p.Lys1773Ter) n.4138A>T n.2575A>T n.2546A>T n.2436A>T c.4978A>T (p.Lys1660Ter) c.*4490A>T (n.*4490A>T) c.5014A>T (p.Lys1672Ter) n.3046A>T c.1505A>T n.2438A>T c.5377A>T (p.Lys1793Ter) c.5374A>T (p.Lys1792Ter) c.5266A>T (p.Lys1756Ter) c.5245A>T (p.Lys1749Ter) c.4591A>T (p.Lys1531Ter) c.5539A>T (p.Lys1847Ter) c.5287A>T (p.Lys1763Ter) c.4033A>T (p.Lys1345Ter) | dbSNP |
16 | g.2088510_2088511dup | CA2573054168 | TSC2 | c.*3673_*3674dup (n.*3673_*3674dup) c.5171_5172dup (p.Ala1725LysfsTer?) c.5321_5322dup (p.Ala1775LysfsTer?) c.*5837_*5838dup (n.*5837_*5838dup) c.*8073_*8074dup (n.*8073_*8074dup) c.5324_5325dup (p.Ala1776LysfsTer?) c.5255_5256dup (p.Ala1753LysfsTer?) c.5123_5124dup (p.Ala1709LysfsTer?) c.5156_5157dup (p.Ala1720LysfsTer?) c.1547_1548dup n.3206_3207dup c.3978_3979dup c.5183_5184dup (p.Ala1729LysfsTer?) n.921_922dup c.5126_5127dup (p.Ala1710LysfsTer?) c.5192_5193dup (p.Ala1732LysfsTer?) c.5117_5118dup (p.Ala1707LysfsTer?) n.2972_2973dup c.5249_5250dup (p.Ala1751LysfsTer?) c.5195_5196dup (p.Ala1733LysfsTer?) c.5210_5211dup (p.Ala1738LysfsTer?) c.5120_5121dup (p.Ala1708LysfsTer?) c.5245_5246dup n.3408_3409dup c.5318_5319dup (p.Ala1774LysfsTer?) n.4139_4140dup n.2576_2577dup n.2547_2548dup n.2437_2438dup c.4979_4980dup (p.Ala1661LysfsTer?) c.*4491_*4492dup (n.*4491_*4492dup) c.5015_5016dup (p.Ala1673LysfsTer?) n.3047_3048dup c.1506_1507dup n.2439_2440dup c.5378_5379dup (p.Ala1794LysfsTer?) c.5375_5376dup (p.Ala1793LysfsTer?) c.5267_5268dup (p.Ala1757LysfsTer?) c.5246_5247dup (p.Ala1750LysfsTer?) c.4592_4593dup (p.Ala1532LysfsTer?) c.5540_5541dup (p.Ala1848LysfsTer?) c.5288_5289dup (p.Ala1764LysfsTer?) c.4034_4035dup (p.Ala1346LysfsTer?) | ClinVar dbSNP |
16 | g.2088510A>C | CA394315531 | TSC2 | c.*3673A>C (n.*3673A>C) c.5171A>C (p.Lys1724Thr) c.5321A>C (p.Lys1774Thr) c.*5837A>C (n.*5837A>C) c.*8073A>C (n.*8073A>C) c.5324A>C (p.Lys1775Thr) c.5255A>C (p.Lys1752Thr) c.5123A>C (p.Lys1708Thr) c.5156A>C (p.Lys1719Thr) c.1547A>C n.3206A>C c.3978A>C c.5183A>C (p.Lys1728Thr) n.921A>C c.5126A>C (p.Lys1709Thr) c.5192A>C (p.Lys1731Thr) c.5117A>C (p.Lys1706Thr) n.2972A>C c.5249A>C (p.Lys1750Thr) c.5195A>C (p.Lys1732Thr) c.5210A>C (p.Lys1737Thr) c.5120A>C (p.Lys1707Thr) c.5245A>C n.3408A>C c.5318A>C (p.Lys1773Thr) n.4139A>C n.2576A>C n.2547A>C n.2437A>C c.4979A>C (p.Lys1660Thr) c.*4491A>C (n.*4491A>C) c.5015A>C (p.Lys1672Thr) n.3047A>C c.1506A>C n.2439A>C c.5378A>C (p.Lys1793Thr) c.5375A>C (p.Lys1792Thr) c.5267A>C (p.Lys1756Thr) c.5246A>C (p.Lys1749Thr) c.4592A>C (p.Lys1531Thr) c.5540A>C (p.Lys1847Thr) c.5288A>C (p.Lys1763Thr) c.4034A>C (p.Lys1345Thr) | |
16 | g.2088510A>G | CA394315533 | TSC2 | c.*3673A>G (n.*3673A>G) c.5171A>G (p.Lys1724Arg) c.5321A>G (p.Lys1774Arg) c.*5837A>G (n.*5837A>G) c.*8073A>G (n.*8073A>G) c.5324A>G (p.Lys1775Arg) c.5255A>G (p.Lys1752Arg) c.5123A>G (p.Lys1708Arg) c.5156A>G (p.Lys1719Arg) c.1547A>G n.3206A>G c.3978A>G c.5183A>G (p.Lys1728Arg) n.921A>G c.5126A>G (p.Lys1709Arg) c.5192A>G (p.Lys1731Arg) c.5117A>G (p.Lys1706Arg) n.2972A>G c.5249A>G (p.Lys1750Arg) c.5195A>G (p.Lys1732Arg) c.5210A>G (p.Lys1737Arg) c.5120A>G (p.Lys1707Arg) c.5245A>G n.3408A>G c.5318A>G (p.Lys1773Arg) n.4139A>G n.2576A>G n.2547A>G n.2437A>G c.4979A>G (p.Lys1660Arg) c.*4491A>G (n.*4491A>G) c.5015A>G (p.Lys1672Arg) n.3047A>G c.1506A>G n.2439A>G c.5378A>G (p.Lys1793Arg) c.5375A>G (p.Lys1792Arg) c.5267A>G (p.Lys1756Arg) c.5246A>G (p.Lys1749Arg) c.4592A>G (p.Lys1531Arg) c.5540A>G (p.Lys1847Arg) c.5288A>G (p.Lys1763Arg) c.4034A>G (p.Lys1345Arg) | |
16 | g.2088510A>T | CA394315535 | TSC2 | c.*3673A>T (n.*3673A>T) c.5171A>T (p.Lys1724Ile) c.5321A>T (p.Lys1774Ile) c.*5837A>T (n.*5837A>T) c.*8073A>T (n.*8073A>T) c.5324A>T (p.Lys1775Ile) c.5255A>T (p.Lys1752Ile) c.5123A>T (p.Lys1708Ile) c.5156A>T (p.Lys1719Ile) c.1547A>T n.3206A>T c.3978A>T c.5183A>T (p.Lys1728Ile) n.921A>T c.5126A>T (p.Lys1709Ile) c.5192A>T (p.Lys1731Ile) c.5117A>T (p.Lys1706Ile) n.2972A>T c.5249A>T (p.Lys1750Ile) c.5195A>T (p.Lys1732Ile) c.5210A>T (p.Lys1737Ile) c.5120A>T (p.Lys1707Ile) c.5245A>T n.3408A>T c.5318A>T (p.Lys1773Ile) n.4139A>T n.2576A>T n.2547A>T n.2437A>T c.4979A>T (p.Lys1660Ile) c.*4491A>T (n.*4491A>T) c.5015A>T (p.Lys1672Ile) n.3047A>T c.1506A>T n.2439A>T c.5378A>T (p.Lys1793Ile) c.5375A>T (p.Lys1792Ile) c.5267A>T (p.Lys1756Ile) c.5246A>T (p.Lys1749Ile) c.4592A>T (p.Lys1531Ile) c.5540A>T (p.Lys1847Ile) c.5288A>T (p.Lys1763Ile) c.4034A>T (p.Lys1345Ile) | |
16 | g.2088511A>C | CA394315540 | TSC2 | c.*3674A>C (n.*3674A>C) c.5172A>C (p.Lys1724Asn) c.5322A>C (p.Lys1774Asn) c.*5838A>C (n.*5838A>C) c.*8074A>C (n.*8074A>C) c.5325A>C (p.Lys1775Asn) c.5256A>C (p.Lys1752Asn) c.5124A>C (p.Lys1708Asn) c.5157A>C (p.Lys1719Asn) c.1548A>C n.3207A>C c.3979A>C c.5184A>C (p.Lys1728Asn) n.922A>C c.5127A>C (p.Lys1709Asn) c.5193A>C (p.Lys1731Asn) c.5118A>C (p.Lys1706Asn) n.2973A>C c.5250A>C (p.Lys1750Asn) c.5196A>C (p.Lys1732Asn) c.5211A>C (p.Lys1737Asn) c.5121A>C (p.Lys1707Asn) c.5246A>C n.3409A>C c.5319A>C (p.Lys1773Asn) n.4140A>C n.2577A>C n.2548A>C n.2438A>C c.4980A>C (p.Lys1660Asn) c.*4492A>C (n.*4492A>C) c.5016A>C (p.Lys1672Asn) n.3048A>C c.1507A>C n.2440A>C c.5379A>C (p.Lys1793Asn) c.5376A>C (p.Lys1792Asn) c.5268A>C (p.Lys1756Asn) c.5247A>C (p.Lys1749Asn) c.4593A>C (p.Lys1531Asn) c.5541A>C (p.Lys1847Asn) c.5289A>C (p.Lys1763Asn) c.4035A>C (p.Lys1345Asn) | ClinVar |
16 | g.2088511A>G | CA493043708 | TSC2 | c.*3674A>G (n.*3674A>G) c.5172A>G (p.Lys1724=) c.5322A>G (p.Lys1774=) c.*5838A>G (n.*5838A>G) c.*8074A>G (n.*8074A>G) c.5325A>G (p.Lys1775=) c.5256A>G (p.Lys1752=) c.5124A>G (p.Lys1708=) c.5157A>G (p.Lys1719=) c.1548A>G n.3207A>G c.3979A>G c.5184A>G (p.Lys1728=) n.922A>G c.5127A>G (p.Lys1709=) c.5193A>G (p.Lys1731=) c.5118A>G (p.Lys1706=) n.2973A>G c.5250A>G (p.Lys1750=) c.5196A>G (p.Lys1732=) c.5211A>G (p.Lys1737=) c.5121A>G (p.Lys1707=) c.5246A>G n.3409A>G c.5319A>G (p.Lys1773=) n.4140A>G n.2577A>G n.2548A>G n.2438A>G c.4980A>G (p.Lys1660=) c.*4492A>G (n.*4492A>G) c.5016A>G (p.Lys1672=) n.3048A>G c.1507A>G n.2440A>G c.5379A>G (p.Lys1793=) c.5376A>G (p.Lys1792=) c.5268A>G (p.Lys1756=) c.5247A>G (p.Lys1749=) c.4593A>G (p.Lys1531=) c.5541A>G (p.Lys1847=) c.5289A>G (p.Lys1763=) c.4035A>G (p.Lys1345=) | |
16 | g.2088511A>T | CA394315538 | TSC2 | c.*3674A>T (n.*3674A>T) c.5172A>T (p.Lys1724Asn) c.5322A>T (p.Lys1774Asn) c.*5838A>T (n.*5838A>T) c.*8074A>T (n.*8074A>T) c.5325A>T (p.Lys1775Asn) c.5256A>T (p.Lys1752Asn) c.5124A>T (p.Lys1708Asn) c.5157A>T (p.Lys1719Asn) c.1548A>T n.3207A>T c.3979A>T c.5184A>T (p.Lys1728Asn) n.922A>T c.5127A>T (p.Lys1709Asn) c.5193A>T (p.Lys1731Asn) c.5118A>T (p.Lys1706Asn) n.2973A>T c.5250A>T (p.Lys1750Asn) c.5196A>T (p.Lys1732Asn) c.5211A>T (p.Lys1737Asn) c.5121A>T (p.Lys1707Asn) c.5246A>T n.3409A>T c.5319A>T (p.Lys1773Asn) n.4140A>T n.2577A>T n.2548A>T n.2438A>T c.4980A>T (p.Lys1660Asn) c.*4492A>T (n.*4492A>T) c.5016A>T (p.Lys1672Asn) n.3048A>T c.1507A>T n.2440A>T c.5379A>T (p.Lys1793Asn) c.5376A>T (p.Lys1792Asn) c.5268A>T (p.Lys1756Asn) c.5247A>T (p.Lys1749Asn) c.4593A>T (p.Lys1531Asn) c.5541A>T (p.Lys1847Asn) c.5289A>T (p.Lys1763Asn) c.4035A>T (p.Lys1345Asn) | dbSNP |
16 | g.2088511_2088516del | CA2631119494 | TSC2 | c.*3674_*3679del (n.*3674_*3679del) c.5172_5177del (p.Lys1724_Pro1726delinsAsn) c.5322_5327del (p.Lys1774_Pro1776delinsAsn) c.*5838_*5843del (n.*5838_*5843del) c.*8074_*8079del (n.*8074_*8079del) c.5325_5330del (p.Lys1775_Pro1777delinsAsn) c.5256_5261del (p.Lys1752_Pro1754delinsAsn) c.5124_5129del (p.Lys1708_Pro1710delinsAsn) c.5157_5162del (p.Lys1719_Pro1721delinsAsn) c.1548_1553del n.3207_3212del c.3979_3984del c.5184_5189del (p.Lys1728_Pro1730delinsAsn) n.922_927del c.5127_5132del (p.Lys1709_Pro1711delinsAsn) c.5193_5198del (p.Lys1731_Pro1733delinsAsn) c.5118_5123del (p.Lys1706_Pro1708delinsAsn) n.2973_2978del c.5250_5255del (p.Lys1750_Pro1752delinsAsn) c.5196_5201del (p.Lys1732_Pro1734delinsAsn) c.5211_5216del (p.Lys1737_Pro1739delinsAsn) c.5121_5126del (p.Lys1707_Pro1709delinsAsn) c.5246_5251del n.3409_3414del c.5319_5324del (p.Lys1773_Pro1775delinsAsn) n.4140_4145del n.2577_2582del n.2548_2553del n.2438_2443del c.4980_4985del (p.Lys1660_Pro1662delinsAsn) c.*4492_*4497del (n.*4492_*4497del) c.5016_5021del (p.Lys1672_Pro1674delinsAsn) n.3048_3053del c.1507_1512del n.2440_2445del c.5379_5384del (p.Lys1793_Pro1795delinsAsn) c.5376_5381del (p.Lys1792_Pro1794delinsAsn) c.5268_5273del (p.Lys1756_Pro1758delinsAsn) c.5247_5252del (p.Lys1749_Pro1751delinsAsn) c.4593_4598del (p.Lys1531_Pro1533delinsAsn) c.5541_5546del (p.Lys1847_Pro1849delinsAsn) c.5289_5294del (p.Lys1763_Pro1765delinsAsn) c.4035_4040del (p.Lys1345_Pro1347delinsAsn) | gnomAD v4 |
16 | g.2088512G>A | CA394315543 | TSC2 | c.*3675G>A (n.*3675G>A) c.5173G>A (p.Ala1725Thr) c.5323G>A (p.Ala1775Thr) c.*5839G>A (n.*5839G>A) c.*8075G>A (n.*8075G>A) c.5326G>A (p.Ala1776Thr) c.5257G>A (p.Ala1753Thr) c.5125G>A (p.Ala1709Thr) c.5158G>A (p.Ala1720Thr) c.1549G>A n.3208G>A c.3980G>A c.5185G>A (p.Ala1729Thr) n.923G>A c.5128G>A (p.Ala1710Thr) c.5194G>A (p.Ala1732Thr) c.5119G>A (p.Ala1707Thr) n.2974G>A c.5251G>A (p.Ala1751Thr) c.5197G>A (p.Ala1733Thr) c.5212G>A (p.Ala1738Thr) c.5122G>A (p.Ala1708Thr) c.5247G>A n.3410G>A c.5320G>A (p.Ala1774Thr) n.4141G>A n.2578G>A n.2549G>A n.2439G>A c.4981G>A (p.Ala1661Thr) c.*4493G>A (n.*4493G>A) c.5017G>A (p.Ala1673Thr) n.3049G>A c.1508G>A n.2441G>A c.5380G>A (p.Ala1794Thr) c.5377G>A (p.Ala1793Thr) c.5269G>A (p.Ala1757Thr) c.5248G>A (p.Ala1750Thr) c.4594G>A (p.Ala1532Thr) c.5542G>A (p.Ala1848Thr) c.5290G>A (p.Ala1764Thr) c.4036G>A (p.Ala1346Thr) | |
16 | g.2088512G>C | CA394315545 | TSC2 | c.*3675G>C (n.*3675G>C) c.5173G>C (p.Ala1725Pro) c.5323G>C (p.Ala1775Pro) c.*5839G>C (n.*5839G>C) c.*8075G>C (n.*8075G>C) c.5326G>C (p.Ala1776Pro) c.5257G>C (p.Ala1753Pro) c.5125G>C (p.Ala1709Pro) c.5158G>C (p.Ala1720Pro) c.1549G>C n.3208G>C c.3980G>C c.5185G>C (p.Ala1729Pro) n.923G>C c.5128G>C (p.Ala1710Pro) c.5194G>C (p.Ala1732Pro) c.5119G>C (p.Ala1707Pro) n.2974G>C c.5251G>C (p.Ala1751Pro) c.5197G>C (p.Ala1733Pro) c.5212G>C (p.Ala1738Pro) c.5122G>C (p.Ala1708Pro) c.5247G>C n.3410G>C c.5320G>C (p.Ala1774Pro) n.4141G>C n.2578G>C n.2549G>C n.2439G>C c.4981G>C (p.Ala1661Pro) c.*4493G>C (n.*4493G>C) c.5017G>C (p.Ala1673Pro) n.3049G>C c.1508G>C n.2441G>C c.5380G>C (p.Ala1794Pro) c.5377G>C (p.Ala1793Pro) c.5269G>C (p.Ala1757Pro) c.5248G>C (p.Ala1750Pro) c.4594G>C (p.Ala1532Pro) c.5542G>C (p.Ala1848Pro) c.5290G>C (p.Ala1764Pro) c.4036G>C (p.Ala1346Pro) | ClinVar dbSNP gnomAD v4 |
16 | g.2088512G>T | CA394315549 | TSC2 | c.*3675G>T (n.*3675G>T) c.5173G>T (p.Ala1725Ser) c.5323G>T (p.Ala1775Ser) c.*5839G>T (n.*5839G>T) c.*8075G>T (n.*8075G>T) c.5326G>T (p.Ala1776Ser) c.5257G>T (p.Ala1753Ser) c.5125G>T (p.Ala1709Ser) c.5158G>T (p.Ala1720Ser) c.1549G>T n.3208G>T c.3980G>T c.5185G>T (p.Ala1729Ser) n.923G>T c.5128G>T (p.Ala1710Ser) c.5194G>T (p.Ala1732Ser) c.5119G>T (p.Ala1707Ser) n.2974G>T c.5251G>T (p.Ala1751Ser) c.5197G>T (p.Ala1733Ser) c.5212G>T (p.Ala1738Ser) c.5122G>T (p.Ala1708Ser) c.5247G>T n.3410G>T c.5320G>T (p.Ala1774Ser) n.4141G>T n.2578G>T n.2549G>T n.2439G>T c.4981G>T (p.Ala1661Ser) c.*4493G>T (n.*4493G>T) c.5017G>T (p.Ala1673Ser) n.3049G>T c.1508G>T n.2441G>T c.5380G>T (p.Ala1794Ser) c.5377G>T (p.Ala1793Ser) c.5269G>T (p.Ala1757Ser) c.5248G>T (p.Ala1750Ser) c.4594G>T (p.Ala1532Ser) c.5542G>T (p.Ala1848Ser) c.5290G>T (p.Ala1764Ser) c.4036G>T (p.Ala1346Ser) | ClinVar |
16 | g.2088512_2088513delinsGC | CA2202033824 | TSC2 | c.*3675_*3676delinsGC (n.*3675_*3676delinsGC) c.5173_5174delinsGC (p.Ala1725=) c.5323_5324delinsGC (p.Ala1775=) c.*5839_*5840delinsGC (n.*5839_*5840delinsGC) c.*8075_*8076delinsGC (n.*8075_*8076delinsGC) c.5326_5327delinsGC (p.Ala1776=) c.5257_5258delinsGC (p.Ala1753=) c.5125_5126delinsGC (p.Ala1709=) c.5158_5159delinsGC (p.Ala1720=) c.1549_1550delinsGC n.3208_3209delinsGC c.3980_3981delinsGC c.5185_5186delinsGC (p.Ala1729=) n.923_924delinsGC c.5128_5129delinsGC (p.Ala1710=) c.5194_5195delinsGC (p.Ala1732=) c.5119_5120delinsGC (p.Ala1707=) n.2974_2975delinsGC c.5251_5252delinsGC (p.Ala1751=) c.5197_5198delinsGC (p.Ala1733=) c.5212_5213delinsGC (p.Ala1738=) c.5122_5123delinsGC (p.Ala1708=) c.5247_5248delinsGC n.3410_3411delinsGC c.5320_5321delinsGC (p.Ala1774=) n.4141_4142delinsGC n.2578_2579delinsGC n.2549_2550delinsGC n.2439_2440delinsGC c.4981_4982delinsGC (p.Ala1661=) c.*4493_*4494delinsGC (n.*4493_*4494delinsGC) c.5017_5018delinsGC (p.Ala1673=) n.3049_3050delinsGC c.1508_1509delinsGC n.2441_2442delinsGC c.5380_5381delinsGC (p.Ala1794=) c.5377_5378delinsGC (p.Ala1793=) c.5269_5270delinsGC (p.Ala1757=) c.5248_5249delinsGC (p.Ala1750=) c.4594_4595delinsGC (p.Ala1532=) c.5542_5543delinsGC (p.Ala1848=) c.5290_5291delinsGC (p.Ala1764=) c.4036_4037delinsGC (p.Ala1346=) | |
16 | g.2088512_2088513delinsTT | CA1139664257 | TSC2 | c.*3675_*3676delinsTT (n.*3675_*3676delinsTT) c.5173_5174delinsTT (p.Ala1725Phe) c.5323_5324delinsTT (p.Ala1775Phe) c.*5839_*5840delinsTT (n.*5839_*5840delinsTT) c.*8075_*8076delinsTT (n.*8075_*8076delinsTT) c.5326_5327delinsTT (p.Ala1776Phe) c.5257_5258delinsTT (p.Ala1753Phe) c.5125_5126delinsTT (p.Ala1709Phe) c.5158_5159delinsTT (p.Ala1720Phe) c.1549_1550delinsTT n.3208_3209delinsTT c.3980_3981delinsTT c.5185_5186delinsTT (p.Ala1729Phe) n.923_924delinsTT c.5128_5129delinsTT (p.Ala1710Phe) c.5194_5195delinsTT (p.Ala1732Phe) c.5119_5120delinsTT (p.Ala1707Phe) n.2974_2975delinsTT c.5251_5252delinsTT (p.Ala1751Phe) c.5197_5198delinsTT (p.Ala1733Phe) c.5212_5213delinsTT (p.Ala1738Phe) c.5122_5123delinsTT (p.Ala1708Phe) c.5247_5248delinsTT n.3410_3411delinsTT c.5320_5321delinsTT (p.Ala1774Phe) n.4141_4142delinsTT n.2578_2579delinsTT n.2549_2550delinsTT n.2439_2440delinsTT c.4981_4982delinsTT (p.Ala1661Phe) c.*4493_*4494delinsTT (n.*4493_*4494delinsTT) c.5017_5018delinsTT (p.Ala1673Phe) n.3049_3050delinsTT c.1508_1509delinsTT n.2441_2442delinsTT c.5380_5381delinsTT (p.Ala1794Phe) c.5377_5378delinsTT (p.Ala1793Phe) c.5269_5270delinsTT (p.Ala1757Phe) c.5248_5249delinsTT (p.Ala1750Phe) c.4594_4595delinsTT (p.Ala1532Phe) c.5542_5543delinsTT (p.Ala1848Phe) c.5290_5291delinsTT (p.Ala1764Phe) c.4036_4037delinsTT (p.Ala1346Phe) | ClinVar dbSNP |
16 | g.2088513C>A | CA394315559 | TSC2 | c.*3676C>A (n.*3676C>A) c.5174C>A (p.Ala1725Asp) c.5324C>A (p.Ala1775Asp) c.*5840C>A (n.*5840C>A) c.*8076C>A (n.*8076C>A) c.5327C>A (p.Ala1776Asp) c.5258C>A (p.Ala1753Asp) c.5126C>A (p.Ala1709Asp) c.5159C>A (p.Ala1720Asp) c.1550C>A n.3209C>A c.3981C>A c.5186C>A (p.Ala1729Asp) n.924C>A c.5129C>A (p.Ala1710Asp) c.5195C>A (p.Ala1732Asp) c.5120C>A (p.Ala1707Asp) n.2975C>A c.5252C>A (p.Ala1751Asp) c.5198C>A (p.Ala1733Asp) c.5213C>A (p.Ala1738Asp) c.5123C>A (p.Ala1708Asp) c.5248C>A n.3411C>A c.5321C>A (p.Ala1774Asp) n.4142C>A n.2579C>A n.2550C>A n.2440C>A c.4982C>A (p.Ala1661Asp) c.*4494C>A (n.*4494C>A) c.5018C>A (p.Ala1673Asp) n.3050C>A c.1509C>A n.2442C>A c.5381C>A (p.Ala1794Asp) c.5378C>A (p.Ala1793Asp) c.5270C>A (p.Ala1757Asp) c.5249C>A (p.Ala1750Asp) c.4595C>A (p.Ala1532Asp) c.5543C>A (p.Ala1848Asp) c.5291C>A (p.Ala1764Asp) c.4037C>A (p.Ala1346Asp) | |
16 | g.2088513C= | CA2202033839 | TSC2 | c.*3676C= (n.*3676C=) c.5174C= (p.Ala1725=) c.5324C= (p.Ala1775=) c.*5840C= (n.*5840C=) c.*8076C= (n.*8076C=) c.5327C= (p.Ala1776=) c.5258C= (p.Ala1753=) c.5126C= (p.Ala1709=) c.5159C= (p.Ala1720=) c.1550C= n.3209C= c.3981C= c.5186C= (p.Ala1729=) n.924C= c.5129C= (p.Ala1710=) c.5195C= (p.Ala1732=) c.5120C= (p.Ala1707=) n.2975C= c.5252C= (p.Ala1751=) c.5198C= (p.Ala1733=) c.5213C= (p.Ala1738=) c.5123C= (p.Ala1708=) c.5248C= n.3411C= c.5321C= (p.Ala1774=) n.4142C= n.2579C= n.2550C= n.2440C= c.4982C= (p.Ala1661=) c.*4494C= (n.*4494C=) c.5018C= (p.Ala1673=) n.3050C= c.1509C= n.2442C= c.5381C= (p.Ala1794=) c.5378C= (p.Ala1793=) c.5270C= (p.Ala1757=) c.5249C= (p.Ala1750=) c.4595C= (p.Ala1532=) c.5543C= (p.Ala1848=) c.5291C= (p.Ala1764=) c.4037C= (p.Ala1346=) | |
16 | g.2088513C>G | CA394315567 | TSC2 | c.*3676C>G (n.*3676C>G) c.5174C>G (p.Ala1725Gly) c.5324C>G (p.Ala1775Gly) c.*5840C>G (n.*5840C>G) c.*8076C>G (n.*8076C>G) c.5327C>G (p.Ala1776Gly) c.5258C>G (p.Ala1753Gly) c.5126C>G (p.Ala1709Gly) c.5159C>G (p.Ala1720Gly) c.1550C>G n.3209C>G c.3981C>G c.5186C>G (p.Ala1729Gly) n.924C>G c.5129C>G (p.Ala1710Gly) c.5195C>G (p.Ala1732Gly) c.5120C>G (p.Ala1707Gly) n.2975C>G c.5252C>G (p.Ala1751Gly) c.5198C>G (p.Ala1733Gly) c.5213C>G (p.Ala1738Gly) c.5123C>G (p.Ala1708Gly) c.5248C>G n.3411C>G c.5321C>G (p.Ala1774Gly) n.4142C>G n.2579C>G n.2550C>G n.2440C>G c.4982C>G (p.Ala1661Gly) c.*4494C>G (n.*4494C>G) c.5018C>G (p.Ala1673Gly) n.3050C>G c.1509C>G n.2442C>G c.5381C>G (p.Ala1794Gly) c.5378C>G (p.Ala1793Gly) c.5270C>G (p.Ala1757Gly) c.5249C>G (p.Ala1750Gly) c.4595C>G (p.Ala1532Gly) c.5543C>G (p.Ala1848Gly) c.5291C>G (p.Ala1764Gly) c.4037C>G (p.Ala1346Gly) | dbSNP gnomAD v2 |
16 | g.2088513C>T | CA394315581 | TSC2 | c.*3676C>T (n.*3676C>T) c.5174C>T (p.Ala1725Val) c.5324C>T (p.Ala1775Val) c.*5840C>T (n.*5840C>T) c.*8076C>T (n.*8076C>T) c.5327C>T (p.Ala1776Val) c.5258C>T (p.Ala1753Val) c.5126C>T (p.Ala1709Val) c.5159C>T (p.Ala1720Val) c.1550C>T n.3209C>T c.3981C>T c.5186C>T (p.Ala1729Val) n.924C>T c.5129C>T (p.Ala1710Val) c.5195C>T (p.Ala1732Val) c.5120C>T (p.Ala1707Val) n.2975C>T c.5252C>T (p.Ala1751Val) c.5198C>T (p.Ala1733Val) c.5213C>T (p.Ala1738Val) c.5123C>T (p.Ala1708Val) c.5248C>T n.3411C>T c.5321C>T (p.Ala1774Val) n.4142C>T n.2579C>T n.2550C>T n.2440C>T c.4982C>T (p.Ala1661Val) c.*4494C>T (n.*4494C>T) c.5018C>T (p.Ala1673Val) n.3050C>T c.1509C>T n.2442C>T c.5381C>T (p.Ala1794Val) c.5378C>T (p.Ala1793Val) c.5270C>T (p.Ala1757Val) c.5249C>T (p.Ala1750Val) c.4595C>T (p.Ala1532Val) c.5543C>T (p.Ala1848Val) c.5291C>T (p.Ala1764Val) c.4037C>T (p.Ala1346Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088516dup | CA913188681 | TSC2 | c.*3679dup (n.*3679dup) c.5177dup (p.Ala1727CysfsTer12) c.5327dup (p.Ala1777CysfsTer12) c.*5843dup (n.*5843dup) c.*8079dup (n.*8079dup) c.5330dup (p.Ala1778CysfsTer12) c.5261dup (p.Ala1755CysfsTer12) c.5129dup (p.Ala1711CysfsTer12) c.5162dup (p.Ala1722CysfsTer12) c.1553dup n.3212dup c.3984dup c.5189dup (p.Ala1731CysfsTer12) n.927dup c.5132dup (p.Ala1712CysfsTer12) c.5198dup (p.Ala1734CysfsTer12) c.5123dup (p.Ala1709CysfsTer12) n.2978dup c.5255dup (p.Ala1753CysfsTer12) c.5201dup (p.Ala1735CysfsTer12) c.5216dup (p.Ala1740CysfsTer12) c.5126dup (p.Ala1710CysfsTer12) c.5251dup n.3414dup c.5324dup (p.Ala1776CysfsTer12) n.4145dup n.2582dup n.2553dup n.2443dup c.4985dup (p.Ala1663CysfsTer12) c.*4497dup (n.*4497dup) c.5021dup (p.Ala1675CysfsTer12) n.3053dup c.1512dup n.2445dup c.5384dup (p.Ala1796CysfsTer12) c.5381dup (p.Ala1795CysfsTer12) c.5273dup (p.Ala1759CysfsTer12) c.5252dup (p.Ala1752CysfsTer12) c.4598dup (p.Ala1534CysfsTer12) c.5546dup (p.Ala1850CysfsTer12) c.5294dup (p.Ala1766CysfsTer12) c.4040dup (p.Ala1348CysfsTer12) | |
16 | g.2088514C>A | CA493043709 | TSC2 | c.*3677C>A (n.*3677C>A) c.5175C>A (p.Ala1725=) c.5325C>A (p.Ala1775=) c.*5841C>A (n.*5841C>A) c.*8077C>A (n.*8077C>A) c.5328C>A (p.Ala1776=) c.5259C>A (p.Ala1753=) c.5127C>A (p.Ala1709=) c.5160C>A (p.Ala1720=) c.1551C>A n.3210C>A c.3982C>A c.5187C>A (p.Ala1729=) n.925C>A c.5130C>A (p.Ala1710=) c.5196C>A (p.Ala1732=) c.5121C>A (p.Ala1707=) n.2976C>A c.5253C>A (p.Ala1751=) c.5199C>A (p.Ala1733=) c.5214C>A (p.Ala1738=) c.5124C>A (p.Ala1708=) c.5249C>A n.3412C>A c.5322C>A (p.Ala1774=) n.4143C>A n.2580C>A n.2551C>A n.2441C>A c.4983C>A (p.Ala1661=) c.*4495C>A (n.*4495C>A) c.5019C>A (p.Ala1673=) n.3051C>A c.1510C>A n.2443C>A c.5382C>A (p.Ala1794=) c.5379C>A (p.Ala1793=) c.5271C>A (p.Ala1757=) c.5250C>A (p.Ala1750=) c.4596C>A (p.Ala1532=) c.5544C>A (p.Ala1848=) c.5292C>A (p.Ala1764=) c.4038C>A (p.Ala1346=) | ClinVar |
16 | g.2088514C= | CA2202033852 | TSC2 | c.*3677C= (n.*3677C=) c.5175C= (p.Ala1725=) c.5325C= (p.Ala1775=) c.*5841C= (n.*5841C=) c.*8077C= (n.*8077C=) c.5328C= (p.Ala1776=) c.5259C= (p.Ala1753=) c.5127C= (p.Ala1709=) c.5160C= (p.Ala1720=) c.1551C= n.3210C= c.3982C= c.5187C= (p.Ala1729=) n.925C= c.5130C= (p.Ala1710=) c.5196C= (p.Ala1732=) c.5121C= (p.Ala1707=) n.2976C= c.5253C= (p.Ala1751=) c.5199C= (p.Ala1733=) c.5214C= (p.Ala1738=) c.5124C= (p.Ala1708=) c.5249C= n.3412C= c.5322C= (p.Ala1774=) n.4143C= n.2580C= n.2551C= n.2441C= c.4983C= (p.Ala1661=) c.*4495C= (n.*4495C=) c.5019C= (p.Ala1673=) n.3051C= c.1510C= n.2443C= c.5382C= (p.Ala1794=) c.5379C= (p.Ala1793=) c.5271C= (p.Ala1757=) c.5250C= (p.Ala1750=) c.4596C= (p.Ala1532=) c.5544C= (p.Ala1848=) c.5292C= (p.Ala1764=) c.4038C= (p.Ala1346=) | |
16 | g.2088514C>G | CA493043710 | TSC2 | c.*3677C>G (n.*3677C>G) c.5175C>G (p.Ala1725=) c.5325C>G (p.Ala1775=) c.*5841C>G (n.*5841C>G) c.*8077C>G (n.*8077C>G) c.5328C>G (p.Ala1776=) c.5259C>G (p.Ala1753=) c.5127C>G (p.Ala1709=) c.5160C>G (p.Ala1720=) c.1551C>G n.3210C>G c.3982C>G c.5187C>G (p.Ala1729=) n.925C>G c.5130C>G (p.Ala1710=) c.5196C>G (p.Ala1732=) c.5121C>G (p.Ala1707=) n.2976C>G c.5253C>G (p.Ala1751=) c.5199C>G (p.Ala1733=) c.5214C>G (p.Ala1738=) c.5124C>G (p.Ala1708=) c.5249C>G n.3412C>G c.5322C>G (p.Ala1774=) n.4143C>G n.2580C>G n.2551C>G n.2441C>G c.4983C>G (p.Ala1661=) c.*4495C>G (n.*4495C>G) c.5019C>G (p.Ala1673=) n.3051C>G c.1510C>G n.2443C>G c.5382C>G (p.Ala1794=) c.5379C>G (p.Ala1793=) c.5271C>G (p.Ala1757=) c.5250C>G (p.Ala1750=) c.4596C>G (p.Ala1532=) c.5544C>G (p.Ala1848=) c.5292C>G (p.Ala1764=) c.4038C>G (p.Ala1346=) | ClinVar dbSNP |
16 | g.2088514C>T | CA055117 | TSC2 | c.*3677C>T (n.*3677C>T) c.5175C>T (p.Ala1725=) c.5325C>T (p.Ala1775=) c.*5841C>T (n.*5841C>T) c.*8077C>T (n.*8077C>T) c.5328C>T (p.Ala1776=) c.5259C>T (p.Ala1753=) c.5127C>T (p.Ala1709=) c.5160C>T (p.Ala1720=) c.1551C>T n.3210C>T c.3982C>T c.5187C>T (p.Ala1729=) n.925C>T c.5130C>T (p.Ala1710=) c.5196C>T (p.Ala1732=) c.5121C>T (p.Ala1707=) n.2976C>T c.5253C>T (p.Ala1751=) c.5199C>T (p.Ala1733=) c.5214C>T (p.Ala1738=) c.5124C>T (p.Ala1708=) c.5249C>T n.3412C>T c.5322C>T (p.Ala1774=) n.4143C>T n.2580C>T n.2551C>T n.2441C>T c.4983C>T (p.Ala1661=) c.*4495C>T (n.*4495C>T) c.5019C>T (p.Ala1673=) n.3051C>T c.1510C>T n.2443C>T c.5382C>T (p.Ala1794=) c.5379C>T (p.Ala1793=) c.5271C>T (p.Ala1757=) c.5250C>T (p.Ala1750=) c.4596C>T (p.Ala1532=) c.5544C>T (p.Ala1848=) c.5292C>T (p.Ala1764=) c.4038C>T (p.Ala1346=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2088515C>A | CA394315595 | TSC2 | c.*3678C>A (n.*3678C>A) c.5176C>A (p.Pro1726Thr) c.5326C>A (p.Pro1776Thr) c.*5842C>A (n.*5842C>A) c.*8078C>A (n.*8078C>A) c.5329C>A (p.Pro1777Thr) c.5260C>A (p.Pro1754Thr) c.5128C>A (p.Pro1710Thr) c.5161C>A (p.Pro1721Thr) c.1552C>A n.3211C>A c.3983C>A c.5188C>A (p.Pro1730Thr) n.926C>A c.5131C>A (p.Pro1711Thr) c.5197C>A (p.Pro1733Thr) c.5122C>A (p.Pro1708Thr) n.2977C>A c.5254C>A (p.Pro1752Thr) c.5200C>A (p.Pro1734Thr) c.5215C>A (p.Pro1739Thr) c.5125C>A (p.Pro1709Thr) c.5250C>A n.3413C>A c.5323C>A (p.Pro1775Thr) n.4144C>A n.2581C>A n.2552C>A n.2442C>A c.4984C>A (p.Pro1662Thr) c.*4496C>A (n.*4496C>A) c.5020C>A (p.Pro1674Thr) n.3052C>A c.1511C>A n.2444C>A c.5383C>A (p.Pro1795Thr) c.5380C>A (p.Pro1794Thr) c.5272C>A (p.Pro1758Thr) c.5251C>A (p.Pro1751Thr) c.4597C>A (p.Pro1533Thr) c.5545C>A (p.Pro1849Thr) c.5293C>A (p.Pro1765Thr) c.4039C>A (p.Pro1347Thr) | |
16 | g.2088515C= | CA2202033865 | TSC2 | c.*3678C= (n.*3678C=) c.5176C= (p.Pro1726=) c.5326C= (p.Pro1776=) c.*5842C= (n.*5842C=) c.*8078C= (n.*8078C=) c.5329C= (p.Pro1777=) c.5260C= (p.Pro1754=) c.5128C= (p.Pro1710=) c.5161C= (p.Pro1721=) c.1552C= n.3211C= c.3983C= c.5188C= (p.Pro1730=) n.926C= c.5131C= (p.Pro1711=) c.5197C= (p.Pro1733=) c.5122C= (p.Pro1708=) n.2977C= c.5254C= (p.Pro1752=) c.5200C= (p.Pro1734=) c.5215C= (p.Pro1739=) c.5125C= (p.Pro1709=) c.5250C= n.3413C= c.5323C= (p.Pro1775=) n.4144C= n.2581C= n.2552C= n.2442C= c.4984C= (p.Pro1662=) c.*4496C= (n.*4496C=) c.5020C= (p.Pro1674=) n.3052C= c.1511C= n.2444C= c.5383C= (p.Pro1795=) c.5380C= (p.Pro1794=) c.5272C= (p.Pro1758=) c.5251C= (p.Pro1751=) c.4597C= (p.Pro1533=) c.5545C= (p.Pro1849=) c.5293C= (p.Pro1765=) c.4039C= (p.Pro1347=) | |
16 | g.2088515C>G | CA10579908 | TSC2 | c.*3678C>G (n.*3678C>G) c.5176C>G (p.Pro1726Ala) c.5326C>G (p.Pro1776Ala) c.*5842C>G (n.*5842C>G) c.*8078C>G (n.*8078C>G) c.5329C>G (p.Pro1777Ala) c.5260C>G (p.Pro1754Ala) c.5128C>G (p.Pro1710Ala) c.5161C>G (p.Pro1721Ala) c.1552C>G n.3211C>G c.3983C>G c.5188C>G (p.Pro1730Ala) n.926C>G c.5131C>G (p.Pro1711Ala) c.5197C>G (p.Pro1733Ala) c.5122C>G (p.Pro1708Ala) n.2977C>G c.5254C>G (p.Pro1752Ala) c.5200C>G (p.Pro1734Ala) c.5215C>G (p.Pro1739Ala) c.5125C>G (p.Pro1709Ala) c.5250C>G n.3413C>G c.5323C>G (p.Pro1775Ala) n.4144C>G n.2581C>G n.2552C>G n.2442C>G c.4984C>G (p.Pro1662Ala) c.*4496C>G (n.*4496C>G) c.5020C>G (p.Pro1674Ala) n.3052C>G c.1511C>G n.2444C>G c.5383C>G (p.Pro1795Ala) c.5380C>G (p.Pro1794Ala) c.5272C>G (p.Pro1758Ala) c.5251C>G (p.Pro1751Ala) c.4597C>G (p.Pro1533Ala) c.5545C>G (p.Pro1849Ala) c.5293C>G (p.Pro1765Ala) c.4039C>G (p.Pro1347Ala) | ClinVar dbSNP |
16 | g.2088515C>T | CA055123 | TSC2 | c.*3678C>T (n.*3678C>T) c.5176C>T (p.Pro1726Ser) c.5326C>T (p.Pro1776Ser) c.*5842C>T (n.*5842C>T) c.*8078C>T (n.*8078C>T) c.5329C>T (p.Pro1777Ser) c.5260C>T (p.Pro1754Ser) c.5128C>T (p.Pro1710Ser) c.5161C>T (p.Pro1721Ser) c.1552C>T n.3211C>T c.3983C>T c.5188C>T (p.Pro1730Ser) n.926C>T c.5131C>T (p.Pro1711Ser) c.5197C>T (p.Pro1733Ser) c.5122C>T (p.Pro1708Ser) n.2977C>T c.5254C>T (p.Pro1752Ser) c.5200C>T (p.Pro1734Ser) c.5215C>T (p.Pro1739Ser) c.5125C>T (p.Pro1709Ser) c.5250C>T n.3413C>T c.5323C>T (p.Pro1775Ser) n.4144C>T n.2581C>T n.2552C>T n.2442C>T c.4984C>T (p.Pro1662Ser) c.*4496C>T (n.*4496C>T) c.5020C>T (p.Pro1674Ser) n.3052C>T c.1511C>T n.2444C>T c.5383C>T (p.Pro1795Ser) c.5380C>T (p.Pro1794Ser) c.5272C>T (p.Pro1758Ser) c.5251C>T (p.Pro1751Ser) c.4597C>T (p.Pro1533Ser) c.5545C>T (p.Pro1849Ser) c.5293C>T (p.Pro1765Ser) c.4039C>T (p.Pro1347Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088516_2088525del | CA2573151990 | TSC2 | c.*3679_*3688del (n.*3679_*3688del) c.5177_5186del (p.Pro1726LeufsTer?) c.5327_5336del (p.Pro1776LeufsTer?) c.*5843_*5852del (n.*5843_*5852del) c.*8079_*8088del (n.*8079_*8088del) c.5330_5339del (p.Pro1777LeufsTer?) c.5261_5270del (p.Pro1754LeufsTer?) c.5129_5138del (p.Pro1710LeufsTer?) c.5162_5171del (p.Pro1721LeufsTer?) c.1553_1562del n.3212_3221del c.3984_3993del c.5189_5198del (p.Pro1730LeufsTer?) n.927_936del c.5132_5141del (p.Pro1711LeufsTer?) c.5198_5207del (p.Pro1733LeufsTer?) c.5123_5132del (p.Pro1708LeufsTer?) n.2978_2987del c.5255_5264del (p.Pro1752LeufsTer?) c.5201_5210del (p.Pro1734LeufsTer?) c.5216_5225del (p.Pro1739LeufsTer?) c.5126_5135del (p.Pro1709LeufsTer?) c.5251_5260del n.3414_3423del c.5324_5333del (p.Pro1775LeufsTer?) n.4145_4154del n.2582_2591del n.2553_2562del n.2443_2452del c.4985_4994del (p.Pro1662LeufsTer?) c.*4497_*4506del (n.*4497_*4506del) c.5021_5030del (p.Pro1674LeufsTer?) n.3053_3062del c.1512_1521del n.2445_2454del c.5384_5393del (p.Pro1795LeufsTer?) c.5381_5390del (p.Pro1794LeufsTer?) c.5273_5282del (p.Pro1758LeufsTer?) c.5252_5261del (p.Pro1751LeufsTer?) c.4598_4607del (p.Pro1533LeufsTer?) c.5546_5555del (p.Pro1849LeufsTer?) c.5294_5303del (p.Pro1765LeufsTer?) c.4040_4049del (p.Pro1347LeufsTer?) | ClinVar dbSNP |
16 | g.2088516C>A | CA394315601 | TSC2 | c.*3679C>A (n.*3679C>A) c.5177C>A (p.Pro1726His) c.5327C>A (p.Pro1776His) c.*5843C>A (n.*5843C>A) c.*8079C>A (n.*8079C>A) c.5330C>A (p.Pro1777His) c.5261C>A (p.Pro1754His) c.5129C>A (p.Pro1710His) c.5162C>A (p.Pro1721His) c.1553C>A n.3212C>A c.3984C>A c.5189C>A (p.Pro1730His) n.927C>A c.5132C>A (p.Pro1711His) c.5198C>A (p.Pro1733His) c.5123C>A (p.Pro1708His) n.2978C>A c.5255C>A (p.Pro1752His) c.5201C>A (p.Pro1734His) c.5216C>A (p.Pro1739His) c.5126C>A (p.Pro1709His) c.5251C>A n.3414C>A c.5324C>A (p.Pro1775His) n.4145C>A n.2582C>A n.2553C>A n.2443C>A c.4985C>A (p.Pro1662His) c.*4497C>A (n.*4497C>A) c.5021C>A (p.Pro1674His) n.3053C>A c.1512C>A n.2445C>A c.5384C>A (p.Pro1795His) c.5381C>A (p.Pro1794His) c.5273C>A (p.Pro1758His) c.5252C>A (p.Pro1751His) c.4598C>A (p.Pro1533His) c.5546C>A (p.Pro1849His) c.5294C>A (p.Pro1765His) c.4040C>A (p.Pro1347His) | ClinVar dbSNP |
16 | g.2088516C= | CA2202033872 | TSC2 | c.*3679C= (n.*3679C=) c.5177C= (p.Pro1726=) c.5327C= (p.Pro1776=) c.*5843C= (n.*5843C=) c.*8079C= (n.*8079C=) c.5330C= (p.Pro1777=) c.5261C= (p.Pro1754=) c.5129C= (p.Pro1710=) c.5162C= (p.Pro1721=) c.1553C= n.3212C= c.3984C= c.5189C= (p.Pro1730=) n.927C= c.5132C= (p.Pro1711=) c.5198C= (p.Pro1733=) c.5123C= (p.Pro1708=) n.2978C= c.5255C= (p.Pro1752=) c.5201C= (p.Pro1734=) c.5216C= (p.Pro1739=) c.5126C= (p.Pro1709=) c.5251C= n.3414C= c.5324C= (p.Pro1775=) n.4145C= n.2582C= n.2553C= n.2443C= c.4985C= (p.Pro1662=) c.*4497C= (n.*4497C=) c.5021C= (p.Pro1674=) n.3053C= c.1512C= n.2445C= c.5384C= (p.Pro1795=) c.5381C= (p.Pro1794=) c.5273C= (p.Pro1758=) c.5252C= (p.Pro1751=) c.4598C= (p.Pro1533=) c.5546C= (p.Pro1849=) c.5294C= (p.Pro1765=) c.4040C= (p.Pro1347=) | |
16 | g.2088516C>G | CA394315604 | TSC2 | c.*3679C>G (n.*3679C>G) c.5177C>G (p.Pro1726Arg) c.5327C>G (p.Pro1776Arg) c.*5843C>G (n.*5843C>G) c.*8079C>G (n.*8079C>G) c.5330C>G (p.Pro1777Arg) c.5261C>G (p.Pro1754Arg) c.5129C>G (p.Pro1710Arg) c.5162C>G (p.Pro1721Arg) c.1553C>G n.3212C>G c.3984C>G c.5189C>G (p.Pro1730Arg) n.927C>G c.5132C>G (p.Pro1711Arg) c.5198C>G (p.Pro1733Arg) c.5123C>G (p.Pro1708Arg) n.2978C>G c.5255C>G (p.Pro1752Arg) c.5201C>G (p.Pro1734Arg) c.5216C>G (p.Pro1739Arg) c.5126C>G (p.Pro1709Arg) c.5251C>G n.3414C>G c.5324C>G (p.Pro1775Arg) n.4145C>G n.2582C>G n.2553C>G n.2443C>G c.4985C>G (p.Pro1662Arg) c.*4497C>G (n.*4497C>G) c.5021C>G (p.Pro1674Arg) n.3053C>G c.1512C>G n.2445C>G c.5384C>G (p.Pro1795Arg) c.5381C>G (p.Pro1794Arg) c.5273C>G (p.Pro1758Arg) c.5252C>G (p.Pro1751Arg) c.4598C>G (p.Pro1533Arg) c.5546C>G (p.Pro1849Arg) c.5294C>G (p.Pro1765Arg) c.4040C>G (p.Pro1347Arg) | ClinVar dbSNP |
16 | g.2088516C>T | CA394315607 | TSC2 | c.*3679C>T (n.*3679C>T) c.5177C>T (p.Pro1726Leu) c.5327C>T (p.Pro1776Leu) c.*5843C>T (n.*5843C>T) c.*8079C>T (n.*8079C>T) c.5330C>T (p.Pro1777Leu) c.5261C>T (p.Pro1754Leu) c.5129C>T (p.Pro1710Leu) c.5162C>T (p.Pro1721Leu) c.1553C>T n.3212C>T c.3984C>T c.5189C>T (p.Pro1730Leu) n.927C>T c.5132C>T (p.Pro1711Leu) c.5198C>T (p.Pro1733Leu) c.5123C>T (p.Pro1708Leu) n.2978C>T c.5255C>T (p.Pro1752Leu) c.5201C>T (p.Pro1734Leu) c.5216C>T (p.Pro1739Leu) c.5126C>T (p.Pro1709Leu) c.5251C>T n.3414C>T c.5324C>T (p.Pro1775Leu) n.4145C>T n.2582C>T n.2553C>T n.2443C>T c.4985C>T (p.Pro1662Leu) c.*4497C>T (n.*4497C>T) c.5021C>T (p.Pro1674Leu) n.3053C>T c.1512C>T n.2445C>T c.5384C>T (p.Pro1795Leu) c.5381C>T (p.Pro1794Leu) c.5273C>T (p.Pro1758Leu) c.5252C>T (p.Pro1751Leu) c.4598C>T (p.Pro1533Leu) c.5546C>T (p.Pro1849Leu) c.5294C>T (p.Pro1765Leu) c.4040C>T (p.Pro1347Leu) | ClinVar |
16 | g.2088517T>A | CA493043711 | TSC2 | c.*3680T>A (n.*3680T>A) c.5178T>A (p.Pro1726=) c.5328T>A (p.Pro1776=) c.*5844T>A (n.*5844T>A) c.*8080T>A (n.*8080T>A) c.5331T>A (p.Pro1777=) c.5262T>A (p.Pro1754=) c.5130T>A (p.Pro1710=) c.5163T>A (p.Pro1721=) c.1554T>A n.3213T>A c.3985T>A c.5190T>A (p.Pro1730=) n.928T>A c.5133T>A (p.Pro1711=) c.5199T>A (p.Pro1733=) c.5124T>A (p.Pro1708=) n.2979T>A c.5256T>A (p.Pro1752=) c.5202T>A (p.Pro1734=) c.5217T>A (p.Pro1739=) c.5127T>A (p.Pro1709=) c.5252T>A n.3415T>A c.5325T>A (p.Pro1775=) n.4146T>A n.2583T>A n.2554T>A n.2444T>A c.4986T>A (p.Pro1662=) c.*4498T>A (n.*4498T>A) c.5022T>A (p.Pro1674=) n.3054T>A c.1513T>A n.2446T>A c.5385T>A (p.Pro1795=) c.5382T>A (p.Pro1794=) c.5274T>A (p.Pro1758=) c.5253T>A (p.Pro1751=) c.4599T>A (p.Pro1533=) c.5547T>A (p.Pro1849=) c.5295T>A (p.Pro1765=) c.4041T>A (p.Pro1347=) | |
16 | g.2088517T>C | CA022397 | TSC2 | c.*3680T>C (n.*3680T>C) c.5178T>C (p.Pro1726=) c.5328T>C (p.Pro1776=) c.*5844T>C (n.*5844T>C) c.*8080T>C (n.*8080T>C) c.5331T>C (p.Pro1777=) c.5262T>C (p.Pro1754=) c.5130T>C (p.Pro1710=) c.5163T>C (p.Pro1721=) c.1554T>C n.3213T>C c.3985T>C c.5190T>C (p.Pro1730=) n.928T>C c.5133T>C (p.Pro1711=) c.5199T>C (p.Pro1733=) c.5124T>C (p.Pro1708=) n.2979T>C c.5256T>C (p.Pro1752=) c.5202T>C (p.Pro1734=) c.5217T>C (p.Pro1739=) c.5127T>C (p.Pro1709=) c.5252T>C n.3415T>C c.5325T>C (p.Pro1775=) n.4146T>C n.2583T>C n.2554T>C n.2444T>C c.4986T>C (p.Pro1662=) c.*4498T>C (n.*4498T>C) c.5022T>C (p.Pro1674=) n.3054T>C c.1513T>C n.2446T>C c.5385T>C (p.Pro1795=) c.5382T>C (p.Pro1794=) c.5274T>C (p.Pro1758=) c.5253T>C (p.Pro1751=) c.4599T>C (p.Pro1533=) c.5547T>C (p.Pro1849=) c.5295T>C (p.Pro1765=) c.4041T>C (p.Pro1347=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088517T>G | CA493043712 | TSC2 | c.*3680T>G (n.*3680T>G) c.5178T>G (p.Pro1726=) c.5328T>G (p.Pro1776=) c.*5844T>G (n.*5844T>G) c.*8080T>G (n.*8080T>G) c.5331T>G (p.Pro1777=) c.5262T>G (p.Pro1754=) c.5130T>G (p.Pro1710=) c.5163T>G (p.Pro1721=) c.1554T>G n.3213T>G c.3985T>G c.5190T>G (p.Pro1730=) n.928T>G c.5133T>G (p.Pro1711=) c.5199T>G (p.Pro1733=) c.5124T>G (p.Pro1708=) n.2979T>G c.5256T>G (p.Pro1752=) c.5202T>G (p.Pro1734=) c.5217T>G (p.Pro1739=) c.5127T>G (p.Pro1709=) c.5252T>G n.3415T>G c.5325T>G (p.Pro1775=) n.4146T>G n.2583T>G n.2554T>G n.2444T>G c.4986T>G (p.Pro1662=) c.*4498T>G (n.*4498T>G) c.5022T>G (p.Pro1674=) n.3054T>G c.1513T>G n.2446T>G c.5385T>G (p.Pro1795=) c.5382T>G (p.Pro1794=) c.5274T>G (p.Pro1758=) c.5253T>G (p.Pro1751=) c.4599T>G (p.Pro1533=) c.5547T>G (p.Pro1849=) c.5295T>G (p.Pro1765=) c.4041T>G (p.Pro1347=) | gnomAD v4 |
16 | g.2088517T= | CA2202033880 | TSC2 | c.*3680T= (n.*3680T=) c.5178T= (p.Pro1726=) c.5328T= (p.Pro1776=) c.*5844T= (n.*5844T=) c.*8080T= (n.*8080T=) c.5331T= (p.Pro1777=) c.5262T= (p.Pro1754=) c.5130T= (p.Pro1710=) c.5163T= (p.Pro1721=) c.1554T= n.3213T= c.3985T= c.5190T= (p.Pro1730=) n.928T= c.5133T= (p.Pro1711=) c.5199T= (p.Pro1733=) c.5124T= (p.Pro1708=) n.2979T= c.5256T= (p.Pro1752=) c.5202T= (p.Pro1734=) c.5217T= (p.Pro1739=) c.5127T= (p.Pro1709=) c.5252T= n.3415T= c.5325T= (p.Pro1775=) n.4146T= n.2583T= n.2554T= n.2444T= c.4986T= (p.Pro1662=) c.*4498T= (n.*4498T=) c.5022T= (p.Pro1674=) n.3054T= c.1513T= n.2446T= c.5385T= (p.Pro1795=) c.5382T= (p.Pro1794=) c.5274T= (p.Pro1758=) c.5253T= (p.Pro1751=) c.4599T= (p.Pro1533=) c.5547T= (p.Pro1849=) c.5295T= (p.Pro1765=) c.4041T= (p.Pro1347=) | |
16 | g.2088518G>A | CA16622078 | TSC2 | c.*3681G>A (n.*3681G>A) c.5179G>A (p.Ala1727Thr) c.5329G>A (p.Ala1777Thr) c.*5845G>A (n.*5845G>A) c.*8081G>A (n.*8081G>A) c.5332G>A (p.Ala1778Thr) c.5263G>A (p.Ala1755Thr) c.5131G>A (p.Ala1711Thr) c.5164G>A (p.Ala1722Thr) c.1555G>A n.3214G>A c.3986G>A c.5191G>A (p.Ala1731Thr) n.929G>A c.5134G>A (p.Ala1712Thr) c.5200G>A (p.Ala1734Thr) c.5125G>A (p.Ala1709Thr) n.2980G>A c.5257G>A (p.Ala1753Thr) c.5203G>A (p.Ala1735Thr) c.5218G>A (p.Ala1740Thr) c.5128G>A (p.Ala1710Thr) c.5253G>A n.3416G>A c.5326G>A (p.Ala1776Thr) n.4147G>A n.2584G>A n.2555G>A n.2445G>A c.4987G>A (p.Ala1663Thr) c.*4499G>A (n.*4499G>A) c.5023G>A (p.Ala1675Thr) n.3055G>A c.1514G>A n.2447G>A c.5386G>A (p.Ala1796Thr) c.5383G>A (p.Ala1795Thr) c.5275G>A (p.Ala1759Thr) c.5254G>A (p.Ala1752Thr) c.4600G>A (p.Ala1534Thr) c.5548G>A (p.Ala1850Thr) c.5296G>A (p.Ala1766Thr) c.4042G>A (p.Ala1348Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088518G>C | CA394315612 | TSC2 | c.*3681G>C (n.*3681G>C) c.5179G>C (p.Ala1727Pro) c.5329G>C (p.Ala1777Pro) c.*5845G>C (n.*5845G>C) c.*8081G>C (n.*8081G>C) c.5332G>C (p.Ala1778Pro) c.5263G>C (p.Ala1755Pro) c.5131G>C (p.Ala1711Pro) c.5164G>C (p.Ala1722Pro) c.1555G>C n.3214G>C c.3986G>C c.5191G>C (p.Ala1731Pro) n.929G>C c.5134G>C (p.Ala1712Pro) c.5200G>C (p.Ala1734Pro) c.5125G>C (p.Ala1709Pro) n.2980G>C c.5257G>C (p.Ala1753Pro) c.5203G>C (p.Ala1735Pro) c.5218G>C (p.Ala1740Pro) c.5128G>C (p.Ala1710Pro) c.5253G>C n.3416G>C c.5326G>C (p.Ala1776Pro) n.4147G>C n.2584G>C n.2555G>C n.2445G>C c.4987G>C (p.Ala1663Pro) c.*4499G>C (n.*4499G>C) c.5023G>C (p.Ala1675Pro) n.3055G>C c.1514G>C n.2447G>C c.5386G>C (p.Ala1796Pro) c.5383G>C (p.Ala1795Pro) c.5275G>C (p.Ala1759Pro) c.5254G>C (p.Ala1752Pro) c.4600G>C (p.Ala1534Pro) c.5548G>C (p.Ala1850Pro) c.5296G>C (p.Ala1766Pro) c.4042G>C (p.Ala1348Pro) | gnomAD v4 |
16 | g.2088518G= | CA2202033887 | TSC2 | c.*3681G= (n.*3681G=) c.5179G= (p.Ala1727=) c.5329G= (p.Ala1777=) c.*5845G= (n.*5845G=) c.*8081G= (n.*8081G=) c.5332G= (p.Ala1778=) c.5263G= (p.Ala1755=) c.5131G= (p.Ala1711=) c.5164G= (p.Ala1722=) c.1555G= n.3214G= c.3986G= c.5191G= (p.Ala1731=) n.929G= c.5134G= (p.Ala1712=) c.5200G= (p.Ala1734=) c.5125G= (p.Ala1709=) n.2980G= c.5257G= (p.Ala1753=) c.5203G= (p.Ala1735=) c.5218G= (p.Ala1740=) c.5128G= (p.Ala1710=) c.5253G= n.3416G= c.5326G= (p.Ala1776=) n.4147G= n.2584G= n.2555G= n.2445G= c.4987G= (p.Ala1663=) c.*4499G= (n.*4499G=) c.5023G= (p.Ala1675=) n.3055G= c.1514G= n.2447G= c.5386G= (p.Ala1796=) c.5383G= (p.Ala1795=) c.5275G= (p.Ala1759=) c.5254G= (p.Ala1752=) c.4600G= (p.Ala1534=) c.5548G= (p.Ala1850=) c.5296G= (p.Ala1766=) c.4042G= (p.Ala1348=) | |
16 | g.2088518G>T | CA394315614 | TSC2 | c.*3681G>T (n.*3681G>T) c.5179G>T (p.Ala1727Ser) c.5329G>T (p.Ala1777Ser) c.*5845G>T (n.*5845G>T) c.*8081G>T (n.*8081G>T) c.5332G>T (p.Ala1778Ser) c.5263G>T (p.Ala1755Ser) c.5131G>T (p.Ala1711Ser) c.5164G>T (p.Ala1722Ser) c.1555G>T n.3214G>T c.3986G>T c.5191G>T (p.Ala1731Ser) n.929G>T c.5134G>T (p.Ala1712Ser) c.5200G>T (p.Ala1734Ser) c.5125G>T (p.Ala1709Ser) n.2980G>T c.5257G>T (p.Ala1753Ser) c.5203G>T (p.Ala1735Ser) c.5218G>T (p.Ala1740Ser) c.5128G>T (p.Ala1710Ser) c.5253G>T n.3416G>T c.5326G>T (p.Ala1776Ser) n.4147G>T n.2584G>T n.2555G>T n.2445G>T c.4987G>T (p.Ala1663Ser) c.*4499G>T (n.*4499G>T) c.5023G>T (p.Ala1675Ser) n.3055G>T c.1514G>T n.2447G>T c.5386G>T (p.Ala1796Ser) c.5383G>T (p.Ala1795Ser) c.5275G>T (p.Ala1759Ser) c.5254G>T (p.Ala1752Ser) c.4600G>T (p.Ala1534Ser) c.5548G>T (p.Ala1850Ser) c.5296G>T (p.Ala1766Ser) c.4042G>T (p.Ala1348Ser) | |
16 | g.2088519del | CA620705132 | TSC2 | c.*3682del (n.*3682del) c.5180del (p.Ala1727AspfsTer?) c.5330del (p.Ala1777AspfsTer?) c.*5846del (n.*5846del) c.*8082del (n.*8082del) c.5333del (p.Ala1778AspfsTer?) c.5264del (p.Ala1755AspfsTer?) c.5132del (p.Ala1711AspfsTer?) c.5165del (p.Ala1722AspfsTer?) c.1556del n.3215del c.3987del c.5192del (p.Ala1731AspfsTer?) n.930del c.5135del (p.Ala1712AspfsTer?) c.5201del (p.Ala1734AspfsTer?) c.5126del (p.Ala1709AspfsTer?) n.2981del c.5258del (p.Ala1753AspfsTer?) c.5204del (p.Ala1735AspfsTer?) c.5219del (p.Ala1740AspfsTer?) c.5129del (p.Ala1710AspfsTer?) c.5254del n.3417del c.5327del (p.Ala1776AspfsTer?) n.4148del n.2585del n.2556del n.2446del c.4988del (p.Ala1663AspfsTer?) c.*4500del (n.*4500del) c.5024del (p.Ala1675AspfsTer?) n.3056del c.1515del n.2448del c.5387del (p.Ala1796AspfsTer?) c.5384del (p.Ala1795AspfsTer?) c.5276del (p.Ala1759AspfsTer?) c.5255del (p.Ala1752AspfsTer?) c.4601del (p.Ala1534AspfsTer?) c.5549del (p.Ala1850AspfsTer?) c.5297del (p.Ala1766AspfsTer?) c.4043del (p.Ala1348AspfsTer?) | gnomAD v2 gnomAD v4 |
16 | g.2088519C>A | CA055137 | TSC2 | c.*3682C>A (n.*3682C>A) c.5180C>A (p.Ala1727Glu) c.5330C>A (p.Ala1777Glu) c.*5846C>A (n.*5846C>A) c.*8082C>A (n.*8082C>A) c.5333C>A (p.Ala1778Glu) c.5264C>A (p.Ala1755Glu) c.5132C>A (p.Ala1711Glu) c.5165C>A (p.Ala1722Glu) c.1556C>A n.3215C>A c.3987C>A c.5192C>A (p.Ala1731Glu) n.930C>A c.5135C>A (p.Ala1712Glu) c.5201C>A (p.Ala1734Glu) c.5126C>A (p.Ala1709Glu) n.2981C>A c.5258C>A (p.Ala1753Glu) c.5204C>A (p.Ala1735Glu) c.5219C>A (p.Ala1740Glu) c.5129C>A (p.Ala1710Glu) c.5254C>A n.3417C>A c.5327C>A (p.Ala1776Glu) n.4148C>A n.2585C>A n.2556C>A n.2446C>A c.4988C>A (p.Ala1663Glu) c.*4500C>A (n.*4500C>A) c.5024C>A (p.Ala1675Glu) n.3056C>A c.1515C>A n.2448C>A c.5387C>A (p.Ala1796Glu) c.5384C>A (p.Ala1795Glu) c.5276C>A (p.Ala1759Glu) c.5255C>A (p.Ala1752Glu) c.4601C>A (p.Ala1534Glu) c.5549C>A (p.Ala1850Glu) c.5297C>A (p.Ala1766Glu) c.4043C>A (p.Ala1348Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2088519C= | CA2202033911 | TSC2 | c.*3682C= (n.*3682C=) c.5180C= (p.Ala1727=) c.5330C= (p.Ala1777=) c.*5846C= (n.*5846C=) c.*8082C= (n.*8082C=) c.5333C= (p.Ala1778=) c.5264C= (p.Ala1755=) c.5132C= (p.Ala1711=) c.5165C= (p.Ala1722=) c.1556C= n.3215C= c.3987C= c.5192C= (p.Ala1731=) n.930C= c.5135C= (p.Ala1712=) c.5201C= (p.Ala1734=) c.5126C= (p.Ala1709=) n.2981C= c.5258C= (p.Ala1753=) c.5204C= (p.Ala1735=) c.5219C= (p.Ala1740=) c.5129C= (p.Ala1710=) c.5254C= n.3417C= c.5327C= (p.Ala1776=) n.4148C= n.2585C= n.2556C= n.2446C= c.4988C= (p.Ala1663=) c.*4500C= (n.*4500C=) c.5024C= (p.Ala1675=) n.3056C= c.1515C= n.2448C= c.5387C= (p.Ala1796=) c.5384C= (p.Ala1795=) c.5276C= (p.Ala1759=) c.5255C= (p.Ala1752=) c.4601C= (p.Ala1534=) c.5549C= (p.Ala1850=) c.5297C= (p.Ala1766=) c.4043C= (p.Ala1348=) | |
16 | g.2088519C>G | CA394315619 | TSC2 | c.*3682C>G (n.*3682C>G) c.5180C>G (p.Ala1727Gly) c.5330C>G (p.Ala1777Gly) c.*5846C>G (n.*5846C>G) c.*8082C>G (n.*8082C>G) c.5333C>G (p.Ala1778Gly) c.5264C>G (p.Ala1755Gly) c.5132C>G (p.Ala1711Gly) c.5165C>G (p.Ala1722Gly) c.1556C>G n.3215C>G c.3987C>G c.5192C>G (p.Ala1731Gly) n.930C>G c.5135C>G (p.Ala1712Gly) c.5201C>G (p.Ala1734Gly) c.5126C>G (p.Ala1709Gly) n.2981C>G c.5258C>G (p.Ala1753Gly) c.5204C>G (p.Ala1735Gly) c.5219C>G (p.Ala1740Gly) c.5129C>G (p.Ala1710Gly) c.5254C>G n.3417C>G c.5327C>G (p.Ala1776Gly) n.4148C>G n.2585C>G n.2556C>G n.2446C>G c.4988C>G (p.Ala1663Gly) c.*4500C>G (n.*4500C>G) c.5024C>G (p.Ala1675Gly) n.3056C>G c.1515C>G n.2448C>G c.5387C>G (p.Ala1796Gly) c.5384C>G (p.Ala1795Gly) c.5276C>G (p.Ala1759Gly) c.5255C>G (p.Ala1752Gly) c.4601C>G (p.Ala1534Gly) c.5549C>G (p.Ala1850Gly) c.5297C>G (p.Ala1766Gly) c.4043C>G (p.Ala1348Gly) | COSMIC COSMIC |
16 | g.2088519C>T | CA394315621 | TSC2 | c.*3682C>T (n.*3682C>T) c.5180C>T (p.Ala1727Val) c.5330C>T (p.Ala1777Val) c.*5846C>T (n.*5846C>T) c.*8082C>T (n.*8082C>T) c.5333C>T (p.Ala1778Val) c.5264C>T (p.Ala1755Val) c.5132C>T (p.Ala1711Val) c.5165C>T (p.Ala1722Val) c.1556C>T n.3215C>T c.3987C>T c.5192C>T (p.Ala1731Val) n.930C>T c.5135C>T (p.Ala1712Val) c.5201C>T (p.Ala1734Val) c.5126C>T (p.Ala1709Val) n.2981C>T c.5258C>T (p.Ala1753Val) c.5204C>T (p.Ala1735Val) c.5219C>T (p.Ala1740Val) c.5129C>T (p.Ala1710Val) c.5254C>T n.3417C>T c.5327C>T (p.Ala1776Val) n.4148C>T n.2585C>T n.2556C>T n.2446C>T c.4988C>T (p.Ala1663Val) c.*4500C>T (n.*4500C>T) c.5024C>T (p.Ala1675Val) n.3056C>T c.1515C>T n.2448C>T c.5387C>T (p.Ala1796Val) c.5384C>T (p.Ala1795Val) c.5276C>T (p.Ala1759Val) c.5255C>T (p.Ala1752Val) c.4601C>T (p.Ala1534Val) c.5549C>T (p.Ala1850Val) c.5297C>T (p.Ala1766Val) c.4043C>T (p.Ala1348Val) | ClinVar dbSNP |
16 | g.2088521_2088522del | CA2580612724 | TSC2 | c.*3684_*3685del (n.*3684_*3685del) c.5182_5183del (p.Gln1728AspfsTer10) c.5332_5333del (p.Gln1778AspfsTer10) c.*5848_*5849del (n.*5848_*5849del) c.*8084_*8085del (n.*8084_*8085del) c.5335_5336del (p.Gln1779AspfsTer10) c.5266_5267del (p.Gln1756AspfsTer10) c.5134_5135del (p.Gln1712AspfsTer10) c.5167_5168del (p.Gln1723AspfsTer10) c.1558_1559del n.3217_3218del c.3989_3990del c.5194_5195del (p.Gln1732AspfsTer10) n.932_933del c.5137_5138del (p.Gln1713AspfsTer10) c.5203_5204del (p.Gln1735AspfsTer10) c.5128_5129del (p.Gln1710AspfsTer10) n.2983_2984del c.5260_5261del (p.Gln1754AspfsTer10) c.5206_5207del (p.Gln1736AspfsTer10) c.5221_5222del (p.Gln1741AspfsTer10) c.5131_5132del (p.Gln1711AspfsTer10) c.5256_5257del n.3419_3420del c.5329_5330del (p.Gln1777AspfsTer10) n.4150_4151del n.2587_2588del n.2558_2559del n.2448_2449del c.4990_4991del (p.Gln1664AspfsTer10) c.*4502_*4503del (n.*4502_*4503del) c.5026_5027del (p.Gln1676AspfsTer10) n.3058_3059del c.1517_1518del n.2450_2451del c.5389_5390del (p.Gln1797AspfsTer10) c.5386_5387del (p.Gln1796AspfsTer10) c.5278_5279del (p.Gln1760AspfsTer10) c.5257_5258del (p.Gln1753AspfsTer10) c.4603_4604del (p.Gln1535AspfsTer10) c.5551_5552del (p.Gln1851AspfsTer10) c.5299_5300del (p.Gln1767AspfsTer10) c.4045_4046del (p.Gln1349AspfsTer10) | ClinVar dbSNP gnomAD v4 |
16 | g.2088520A= | CA2202033920 | TSC2 | c.*3683A= (n.*3683A=) c.5181A= (p.Ala1727=) c.5331A= (p.Ala1777=) c.*5847A= (n.*5847A=) c.*8083A= (n.*8083A=) c.5334A= (p.Ala1778=) c.5265A= (p.Ala1755=) c.5133A= (p.Ala1711=) c.5166A= (p.Ala1722=) c.1557A= n.3216A= c.3988A= c.5193A= (p.Ala1731=) n.931A= c.5136A= (p.Ala1712=) c.5202A= (p.Ala1734=) c.5127A= (p.Ala1709=) n.2982A= c.5259A= (p.Ala1753=) c.5205A= (p.Ala1735=) c.5220A= (p.Ala1740=) c.5130A= (p.Ala1710=) c.5255A= n.3418A= c.5328A= (p.Ala1776=) n.4149A= n.2586A= n.2557A= n.2447A= c.4989A= (p.Ala1663=) c.*4501A= (n.*4501A=) c.5025A= (p.Ala1675=) n.3057A= c.1516A= n.2449A= c.5388A= (p.Ala1796=) c.5385A= (p.Ala1795=) c.5277A= (p.Ala1759=) c.5256A= (p.Ala1752=) c.4602A= (p.Ala1534=) c.5550A= (p.Ala1850=) c.5298A= (p.Ala1766=) c.4044A= (p.Ala1348=) | |
16 | g.2088520A>C | CA493043713 | TSC2 | c.*3683A>C (n.*3683A>C) c.5181A>C (p.Ala1727=) c.5331A>C (p.Ala1777=) c.*5847A>C (n.*5847A>C) c.*8083A>C (n.*8083A>C) c.5334A>C (p.Ala1778=) c.5265A>C (p.Ala1755=) c.5133A>C (p.Ala1711=) c.5166A>C (p.Ala1722=) c.1557A>C n.3216A>C c.3988A>C c.5193A>C (p.Ala1731=) n.931A>C c.5136A>C (p.Ala1712=) c.5202A>C (p.Ala1734=) c.5127A>C (p.Ala1709=) n.2982A>C c.5259A>C (p.Ala1753=) c.5205A>C (p.Ala1735=) c.5220A>C (p.Ala1740=) c.5130A>C (p.Ala1710=) c.5255A>C n.3418A>C c.5328A>C (p.Ala1776=) n.4149A>C n.2586A>C n.2557A>C n.2447A>C c.4989A>C (p.Ala1663=) c.*4501A>C (n.*4501A>C) c.5025A>C (p.Ala1675=) n.3057A>C c.1516A>C n.2449A>C c.5388A>C (p.Ala1796=) c.5385A>C (p.Ala1795=) c.5277A>C (p.Ala1759=) c.5256A>C (p.Ala1752=) c.4602A>C (p.Ala1534=) c.5550A>C (p.Ala1850=) c.5298A>C (p.Ala1766=) c.4044A>C (p.Ala1348=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088520A>G | CA055142 | TSC2 | c.*3683A>G (n.*3683A>G) c.5181A>G (p.Ala1727=) c.5331A>G (p.Ala1777=) c.*5847A>G (n.*5847A>G) c.*8083A>G (n.*8083A>G) c.5334A>G (p.Ala1778=) c.5265A>G (p.Ala1755=) c.5133A>G (p.Ala1711=) c.5166A>G (p.Ala1722=) c.1557A>G n.3216A>G c.3988A>G c.5193A>G (p.Ala1731=) n.931A>G c.5136A>G (p.Ala1712=) c.5202A>G (p.Ala1734=) c.5127A>G (p.Ala1709=) n.2982A>G c.5259A>G (p.Ala1753=) c.5205A>G (p.Ala1735=) c.5220A>G (p.Ala1740=) c.5130A>G (p.Ala1710=) c.5255A>G n.3418A>G c.5328A>G (p.Ala1776=) n.4149A>G n.2586A>G n.2557A>G n.2447A>G c.4989A>G (p.Ala1663=) c.*4501A>G (n.*4501A>G) c.5025A>G (p.Ala1675=) n.3057A>G c.1516A>G n.2449A>G c.5388A>G (p.Ala1796=) c.5385A>G (p.Ala1795=) c.5277A>G (p.Ala1759=) c.5256A>G (p.Ala1752=) c.4602A>G (p.Ala1534=) c.5550A>G (p.Ala1850=) c.5298A>G (p.Ala1766=) c.4044A>G (p.Ala1348=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088520A>T | CA493043714 | TSC2 | c.*3683A>T (n.*3683A>T) c.5181A>T (p.Ala1727=) c.5331A>T (p.Ala1777=) c.*5847A>T (n.*5847A>T) c.*8083A>T (n.*8083A>T) c.5334A>T (p.Ala1778=) c.5265A>T (p.Ala1755=) c.5133A>T (p.Ala1711=) c.5166A>T (p.Ala1722=) c.1557A>T n.3216A>T c.3988A>T c.5193A>T (p.Ala1731=) n.931A>T c.5136A>T (p.Ala1712=) c.5202A>T (p.Ala1734=) c.5127A>T (p.Ala1709=) n.2982A>T c.5259A>T (p.Ala1753=) c.5205A>T (p.Ala1735=) c.5220A>T (p.Ala1740=) c.5130A>T (p.Ala1710=) c.5255A>T n.3418A>T c.5328A>T (p.Ala1776=) n.4149A>T n.2586A>T n.2557A>T n.2447A>T c.4989A>T (p.Ala1663=) c.*4501A>T (n.*4501A>T) c.5025A>T (p.Ala1675=) n.3057A>T c.1516A>T n.2449A>T c.5388A>T (p.Ala1796=) c.5385A>T (p.Ala1795=) c.5277A>T (p.Ala1759=) c.5256A>T (p.Ala1752=) c.4602A>T (p.Ala1534=) c.5550A>T (p.Ala1850=) c.5298A>T (p.Ala1766=) c.4044A>T (p.Ala1348=) | |
16 | g.2088520_2088522del | CA2631119509 | TSC2 | c.*3683_*3685del (n.*3683_*3685del) c.5181_5183del (p.Gln1728del) c.5331_5333del (p.Gln1778del) c.*5847_*5849del (n.*5847_*5849del) c.*8083_*8085del (n.*8083_*8085del) c.5334_5336del (p.Gln1779del) c.5265_5267del (p.Gln1756del) c.5133_5135del (p.Gln1712del) c.5166_5168del (p.Gln1723del) c.1557_1559del n.3216_3218del c.3988_3990del c.5193_5195del (p.Gln1732del) n.931_933del c.5136_5138del (p.Gln1713del) c.5202_5204del (p.Gln1735del) c.5127_5129del (p.Gln1710del) n.2982_2984del c.5259_5261del (p.Gln1754del) c.5205_5207del (p.Gln1736del) c.5220_5222del (p.Gln1741del) c.5130_5132del (p.Gln1711del) c.5255_5257del n.3418_3420del c.5328_5330del (p.Gln1777del) n.4149_4151del n.2586_2588del n.2557_2559del n.2447_2449del c.4989_4991del (p.Gln1664del) c.*4501_*4503del (n.*4501_*4503del) c.5025_5027del (p.Gln1676del) n.3057_3059del c.1516_1518del n.2449_2451del c.5388_5390del (p.Gln1797del) c.5385_5387del (p.Gln1796del) c.5277_5279del (p.Gln1760del) c.5256_5258del (p.Gln1753del) c.4602_4604del (p.Gln1535del) c.5550_5552del (p.Gln1851del) c.5298_5300del (p.Gln1767del) c.4044_4046del (p.Gln1349del) | gnomAD v4 |
16 | g.2088521C>A | CA394315628 | TSC2 | c.*3684C>A (n.*3684C>A) c.5182C>A (p.Gln1728Lys) c.5332C>A (p.Gln1778Lys) c.*5848C>A (n.*5848C>A) c.*8084C>A (n.*8084C>A) c.5335C>A (p.Gln1779Lys) c.5266C>A (p.Gln1756Lys) c.5134C>A (p.Gln1712Lys) c.5167C>A (p.Gln1723Lys) c.1558C>A n.3217C>A c.3989C>A c.5194C>A (p.Gln1732Lys) n.932C>A c.5137C>A (p.Gln1713Lys) c.5203C>A (p.Gln1735Lys) c.5128C>A (p.Gln1710Lys) n.2983C>A c.5260C>A (p.Gln1754Lys) c.5206C>A (p.Gln1736Lys) c.5221C>A (p.Gln1741Lys) c.5131C>A (p.Gln1711Lys) c.5256C>A n.3419C>A c.5329C>A (p.Gln1777Lys) n.4150C>A n.2587C>A n.2558C>A n.2448C>A c.4990C>A (p.Gln1664Lys) c.*4502C>A (n.*4502C>A) c.5026C>A (p.Gln1676Lys) n.3058C>A c.1517C>A n.2450C>A c.5389C>A (p.Gln1797Lys) c.5386C>A (p.Gln1796Lys) c.5278C>A (p.Gln1760Lys) c.5257C>A (p.Gln1753Lys) c.4603C>A (p.Gln1535Lys) c.5551C>A (p.Gln1851Lys) c.5299C>A (p.Gln1767Lys) c.4045C>A (p.Gln1349Lys) | ClinVar dbSNP |
16 | g.2088521C= | CA2202033941 | TSC2 | c.*3684C= (n.*3684C=) c.5182C= (p.Gln1728=) c.5332C= (p.Gln1778=) c.*5848C= (n.*5848C=) c.*8084C= (n.*8084C=) c.5335C= (p.Gln1779=) c.5266C= (p.Gln1756=) c.5134C= (p.Gln1712=) c.5167C= (p.Gln1723=) c.1558C= n.3217C= c.3989C= c.5194C= (p.Gln1732=) n.932C= c.5137C= (p.Gln1713=) c.5203C= (p.Gln1735=) c.5128C= (p.Gln1710=) n.2983C= c.5260C= (p.Gln1754=) c.5206C= (p.Gln1736=) c.5221C= (p.Gln1741=) c.5131C= (p.Gln1711=) c.5256C= n.3419C= c.5329C= (p.Gln1777=) n.4150C= n.2587C= n.2558C= n.2448C= c.4990C= (p.Gln1664=) c.*4502C= (n.*4502C=) c.5026C= (p.Gln1676=) n.3058C= c.1517C= n.2450C= c.5389C= (p.Gln1797=) c.5386C= (p.Gln1796=) c.5278C= (p.Gln1760=) c.5257C= (p.Gln1753=) c.4603C= (p.Gln1535=) c.5551C= (p.Gln1851=) c.5299C= (p.Gln1767=) c.4045C= (p.Gln1349=) | |
16 | g.2088521C>G | CA394315631 | TSC2 | c.*3684C>G (n.*3684C>G) c.5182C>G (p.Gln1728Glu) c.5332C>G (p.Gln1778Glu) c.*5848C>G (n.*5848C>G) c.*8084C>G (n.*8084C>G) c.5335C>G (p.Gln1779Glu) c.5266C>G (p.Gln1756Glu) c.5134C>G (p.Gln1712Glu) c.5167C>G (p.Gln1723Glu) c.1558C>G n.3217C>G c.3989C>G c.5194C>G (p.Gln1732Glu) n.932C>G c.5137C>G (p.Gln1713Glu) c.5203C>G (p.Gln1735Glu) c.5128C>G (p.Gln1710Glu) n.2983C>G c.5260C>G (p.Gln1754Glu) c.5206C>G (p.Gln1736Glu) c.5221C>G (p.Gln1741Glu) c.5131C>G (p.Gln1711Glu) c.5256C>G n.3419C>G c.5329C>G (p.Gln1777Glu) n.4150C>G n.2587C>G n.2558C>G n.2448C>G c.4990C>G (p.Gln1664Glu) c.*4502C>G (n.*4502C>G) c.5026C>G (p.Gln1676Glu) n.3058C>G c.1517C>G n.2450C>G c.5389C>G (p.Gln1797Glu) c.5386C>G (p.Gln1796Glu) c.5278C>G (p.Gln1760Glu) c.5257C>G (p.Gln1753Glu) c.4603C>G (p.Gln1535Glu) c.5551C>G (p.Gln1851Glu) c.5299C>G (p.Gln1767Glu) c.4045C>G (p.Gln1349Glu) | ClinVar dbSNP |
16 | g.2088521C>T | CA394315634 | TSC2 | c.*3684C>T (n.*3684C>T) c.5182C>T (p.Gln1728Ter) c.5332C>T (p.Gln1778Ter) c.*5848C>T (n.*5848C>T) c.*8084C>T (n.*8084C>T) c.5335C>T (p.Gln1779Ter) c.5266C>T (p.Gln1756Ter) c.5134C>T (p.Gln1712Ter) c.5167C>T (p.Gln1723Ter) c.1558C>T n.3217C>T c.3989C>T c.5194C>T (p.Gln1732Ter) n.932C>T c.5137C>T (p.Gln1713Ter) c.5203C>T (p.Gln1735Ter) c.5128C>T (p.Gln1710Ter) n.2983C>T c.5260C>T (p.Gln1754Ter) c.5206C>T (p.Gln1736Ter) c.5221C>T (p.Gln1741Ter) c.5131C>T (p.Gln1711Ter) c.5256C>T n.3419C>T c.5329C>T (p.Gln1777Ter) n.4150C>T n.2587C>T n.2558C>T n.2448C>T c.4990C>T (p.Gln1664Ter) c.*4502C>T (n.*4502C>T) c.5026C>T (p.Gln1676Ter) n.3058C>T c.1517C>T n.2450C>T c.5389C>T (p.Gln1797Ter) c.5386C>T (p.Gln1796Ter) c.5278C>T (p.Gln1760Ter) c.5257C>T (p.Gln1753Ter) c.4603C>T (p.Gln1535Ter) c.5551C>T (p.Gln1851Ter) c.5299C>T (p.Gln1767Ter) c.4045C>T (p.Gln1349Ter) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088522A= | CA2202033952 | TSC2 | c.*3685A= (n.*3685A=) c.5183A= (p.Gln1728=) c.5333A= (p.Gln1778=) c.*5849A= (n.*5849A=) c.*8085A= (n.*8085A=) c.5336A= (p.Gln1779=) c.5267A= (p.Gln1756=) c.5135A= (p.Gln1712=) c.5168A= (p.Gln1723=) c.1559A= n.3218A= c.3990A= c.5195A= (p.Gln1732=) n.933A= c.5138A= (p.Gln1713=) c.5204A= (p.Gln1735=) c.5129A= (p.Gln1710=) n.2984A= c.5261A= (p.Gln1754=) c.5207A= (p.Gln1736=) c.5222A= (p.Gln1741=) c.5132A= (p.Gln1711=) c.5257A= n.3420A= c.5330A= (p.Gln1777=) n.4151A= n.2588A= n.2559A= n.2449A= c.4991A= (p.Gln1664=) c.*4503A= (n.*4503A=) c.5027A= (p.Gln1676=) n.3059A= c.1518A= n.2451A= c.5390A= (p.Gln1797=) c.5387A= (p.Gln1796=) c.5279A= (p.Gln1760=) c.5258A= (p.Gln1753=) c.4604A= (p.Gln1535=) c.5552A= (p.Gln1851=) c.5300A= (p.Gln1767=) c.4046A= (p.Gln1349=) | |
16 | g.2088522A>C | CA394315640 | TSC2 | c.*3685A>C (n.*3685A>C) c.5183A>C (p.Gln1728Pro) c.5333A>C (p.Gln1778Pro) c.*5849A>C (n.*5849A>C) c.*8085A>C (n.*8085A>C) c.5336A>C (p.Gln1779Pro) c.5267A>C (p.Gln1756Pro) c.5135A>C (p.Gln1712Pro) c.5168A>C (p.Gln1723Pro) c.1559A>C n.3218A>C c.3990A>C c.5195A>C (p.Gln1732Pro) n.933A>C c.5138A>C (p.Gln1713Pro) c.5204A>C (p.Gln1735Pro) c.5129A>C (p.Gln1710Pro) n.2984A>C c.5261A>C (p.Gln1754Pro) c.5207A>C (p.Gln1736Pro) c.5222A>C (p.Gln1741Pro) c.5132A>C (p.Gln1711Pro) c.5257A>C n.3420A>C c.5330A>C (p.Gln1777Pro) n.4151A>C n.2588A>C n.2559A>C n.2449A>C c.4991A>C (p.Gln1664Pro) c.*4503A>C (n.*4503A>C) c.5027A>C (p.Gln1676Pro) n.3059A>C c.1518A>C n.2451A>C c.5390A>C (p.Gln1797Pro) c.5387A>C (p.Gln1796Pro) c.5279A>C (p.Gln1760Pro) c.5258A>C (p.Gln1753Pro) c.4604A>C (p.Gln1535Pro) c.5552A>C (p.Gln1851Pro) c.5300A>C (p.Gln1767Pro) c.4046A>C (p.Gln1349Pro) | |
16 | g.2088522A>G | CA055149 | TSC2 | c.*3685A>G (n.*3685A>G) c.5183A>G (p.Gln1728Arg) c.5333A>G (p.Gln1778Arg) c.*5849A>G (n.*5849A>G) c.*8085A>G (n.*8085A>G) c.5336A>G (p.Gln1779Arg) c.5267A>G (p.Gln1756Arg) c.5135A>G (p.Gln1712Arg) c.5168A>G (p.Gln1723Arg) c.1559A>G n.3218A>G c.3990A>G c.5195A>G (p.Gln1732Arg) n.933A>G c.5138A>G (p.Gln1713Arg) c.5204A>G (p.Gln1735Arg) c.5129A>G (p.Gln1710Arg) n.2984A>G c.5261A>G (p.Gln1754Arg) c.5207A>G (p.Gln1736Arg) c.5222A>G (p.Gln1741Arg) c.5132A>G (p.Gln1711Arg) c.5257A>G n.3420A>G c.5330A>G (p.Gln1777Arg) n.4151A>G n.2588A>G n.2559A>G n.2449A>G c.4991A>G (p.Gln1664Arg) c.*4503A>G (n.*4503A>G) c.5027A>G (p.Gln1676Arg) n.3059A>G c.1518A>G n.2451A>G c.5390A>G (p.Gln1797Arg) c.5387A>G (p.Gln1796Arg) c.5279A>G (p.Gln1760Arg) c.5258A>G (p.Gln1753Arg) c.4604A>G (p.Gln1535Arg) c.5552A>G (p.Gln1851Arg) c.5300A>G (p.Gln1767Arg) c.4046A>G (p.Gln1349Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088522A>T | CA394315639 | TSC2 | c.*3685A>T (n.*3685A>T) c.5183A>T (p.Gln1728Leu) c.5333A>T (p.Gln1778Leu) c.*5849A>T (n.*5849A>T) c.*8085A>T (n.*8085A>T) c.5336A>T (p.Gln1779Leu) c.5267A>T (p.Gln1756Leu) c.5135A>T (p.Gln1712Leu) c.5168A>T (p.Gln1723Leu) c.1559A>T n.3218A>T c.3990A>T c.5195A>T (p.Gln1732Leu) n.933A>T c.5138A>T (p.Gln1713Leu) c.5204A>T (p.Gln1735Leu) c.5129A>T (p.Gln1710Leu) n.2984A>T c.5261A>T (p.Gln1754Leu) c.5207A>T (p.Gln1736Leu) c.5222A>T (p.Gln1741Leu) c.5132A>T (p.Gln1711Leu) c.5257A>T n.3420A>T c.5330A>T (p.Gln1777Leu) n.4151A>T n.2588A>T n.2559A>T n.2449A>T c.4991A>T (p.Gln1664Leu) c.*4503A>T (n.*4503A>T) c.5027A>T (p.Gln1676Leu) n.3059A>T c.1518A>T n.2451A>T c.5390A>T (p.Gln1797Leu) c.5387A>T (p.Gln1796Leu) c.5279A>T (p.Gln1760Leu) c.5258A>T (p.Gln1753Leu) c.4604A>T (p.Gln1535Leu) c.5552A>T (p.Gln1851Leu) c.5300A>T (p.Gln1767Leu) c.4046A>T (p.Gln1349Leu) | |
16 | g.2088522_2088523insCGGC | CA620705133 | TSC2 | c.*3685_*3686insCGGC (n.*3685_*3686insCGGC) c.5183_5184insCGGC (p.Gln1728HisfsTer12) c.5333_5334insCGGC (p.Gln1778HisfsTer12) c.*5849_*5850insCGGC (n.*5849_*5850insCGGC) c.*8085_*8086insCGGC (n.*8085_*8086insCGGC) c.5336_5337insCGGC (p.Gln1779HisfsTer12) c.5267_5268insCGGC (p.Gln1756HisfsTer12) c.5135_5136insCGGC (p.Gln1712HisfsTer12) c.5168_5169insCGGC (p.Gln1723HisfsTer12) c.1559_1560insCGGC n.3218_3219insCGGC c.3990_3991insCGGC c.5195_5196insCGGC (p.Gln1732HisfsTer12) n.933_934insCGGC c.5138_5139insCGGC (p.Gln1713HisfsTer12) c.5204_5205insCGGC (p.Gln1735HisfsTer12) c.5129_5130insCGGC (p.Gln1710HisfsTer12) n.2984_2985insCGGC c.5261_5262insCGGC (p.Gln1754HisfsTer12) c.5207_5208insCGGC (p.Gln1736HisfsTer12) c.5222_5223insCGGC (p.Gln1741HisfsTer12) c.5132_5133insCGGC (p.Gln1711HisfsTer12) c.5257_5258insCGGC n.3420_3421insCGGC c.5330_5331insCGGC (p.Gln1777HisfsTer12) n.4151_4152insCGGC n.2588_2589insCGGC n.2559_2560insCGGC n.2449_2450insCGGC c.4991_4992insCGGC (p.Gln1664HisfsTer12) c.*4503_*4504insCGGC (n.*4503_*4504insCGGC) c.5027_5028insCGGC (p.Gln1676HisfsTer12) n.3059_3060insCGGC c.1518_1519insCGGC n.2451_2452insCGGC c.5390_5391insCGGC (p.Gln1797HisfsTer12) c.5387_5388insCGGC (p.Gln1796HisfsTer12) c.5279_5280insCGGC (p.Gln1760HisfsTer12) c.5258_5259insCGGC (p.Gln1753HisfsTer12) c.4604_4605insCGGC (p.Gln1535HisfsTer12) c.5552_5553insCGGC (p.Gln1851HisfsTer12) c.5300_5301insCGGC (p.Gln1767HisfsTer12) c.4046_4047insCGGC (p.Gln1349HisfsTer12) | gnomAD v2 gnomAD v4 |
16 | g.2088523G>A | CA276760043 | TSC2 | c.*3686G>A (n.*3686G>A) c.5184G>A (p.Gln1728=) c.5334G>A (p.Gln1778=) c.*5850G>A (n.*5850G>A) c.*8086G>A (n.*8086G>A) c.5337G>A (p.Gln1779=) c.5268G>A (p.Gln1756=) c.5136G>A (p.Gln1712=) c.5169G>A (p.Gln1723=) c.1560G>A n.3219G>A c.3991G>A c.5196G>A (p.Gln1732=) n.934G>A c.5139G>A (p.Gln1713=) c.5205G>A (p.Gln1735=) c.5130G>A (p.Gln1710=) n.2985G>A c.5262G>A (p.Gln1754=) c.5208G>A (p.Gln1736=) c.5223G>A (p.Gln1741=) c.5133G>A (p.Gln1711=) c.5258G>A n.3421G>A c.5331G>A (p.Gln1777=) n.4152G>A n.2589G>A n.2560G>A n.2450G>A c.4992G>A (p.Gln1664=) c.*4504G>A (n.*4504G>A) c.5028G>A (p.Gln1676=) n.3060G>A c.1519G>A n.2452G>A c.5391G>A (p.Gln1797=) c.5388G>A (p.Gln1796=) c.5280G>A (p.Gln1760=) c.5259G>A (p.Gln1753=) c.4605G>A (p.Gln1535=) c.5553G>A (p.Gln1851=) c.5301G>A (p.Gln1767=) c.4047G>A (p.Gln1349=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088523G>C | CA055156 | TSC2 | c.*3686G>C (n.*3686G>C) c.5184G>C (p.Gln1728His) c.5334G>C (p.Gln1778His) c.*5850G>C (n.*5850G>C) c.*8086G>C (n.*8086G>C) c.5337G>C (p.Gln1779His) c.5268G>C (p.Gln1756His) c.5136G>C (p.Gln1712His) c.5169G>C (p.Gln1723His) c.1560G>C n.3219G>C c.3991G>C c.5196G>C (p.Gln1732His) n.934G>C c.5139G>C (p.Gln1713His) c.5205G>C (p.Gln1735His) c.5130G>C (p.Gln1710His) n.2985G>C c.5262G>C (p.Gln1754His) c.5208G>C (p.Gln1736His) c.5223G>C (p.Gln1741His) c.5133G>C (p.Gln1711His) c.5258G>C n.3421G>C c.5331G>C (p.Gln1777His) n.4152G>C n.2589G>C n.2560G>C n.2450G>C c.4992G>C (p.Gln1664His) c.*4504G>C (n.*4504G>C) c.5028G>C (p.Gln1676His) n.3060G>C c.1519G>C n.2452G>C c.5391G>C (p.Gln1797His) c.5388G>C (p.Gln1796His) c.5280G>C (p.Gln1760His) c.5259G>C (p.Gln1753His) c.4605G>C (p.Gln1535His) c.5553G>C (p.Gln1851His) c.5301G>C (p.Gln1767His) c.4047G>C (p.Gln1349His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2088523G= | CA2202033968 | TSC2 | c.*3686G= (n.*3686G=) c.5184G= (p.Gln1728=) c.5334G= (p.Gln1778=) c.*5850G= (n.*5850G=) c.*8086G= (n.*8086G=) c.5337G= (p.Gln1779=) c.5268G= (p.Gln1756=) c.5136G= (p.Gln1712=) c.5169G= (p.Gln1723=) c.1560G= n.3219G= c.3991G= c.5196G= (p.Gln1732=) n.934G= c.5139G= (p.Gln1713=) c.5205G= (p.Gln1735=) c.5130G= (p.Gln1710=) n.2985G= c.5262G= (p.Gln1754=) c.5208G= (p.Gln1736=) c.5223G= (p.Gln1741=) c.5133G= (p.Gln1711=) c.5258G= n.3421G= c.5331G= (p.Gln1777=) n.4152G= n.2589G= n.2560G= n.2450G= c.4992G= (p.Gln1664=) c.*4504G= (n.*4504G=) c.5028G= (p.Gln1676=) n.3060G= c.1519G= n.2452G= c.5391G= (p.Gln1797=) c.5388G= (p.Gln1796=) c.5280G= (p.Gln1760=) c.5259G= (p.Gln1753=) c.4605G= (p.Gln1535=) c.5553G= (p.Gln1851=) c.5301G= (p.Gln1767=) c.4047G= (p.Gln1349=) | |
16 | g.2088523G>T | CA394315644 | TSC2 | c.*3686G>T (n.*3686G>T) c.5184G>T (p.Gln1728His) c.5334G>T (p.Gln1778His) c.*5850G>T (n.*5850G>T) c.*8086G>T (n.*8086G>T) c.5337G>T (p.Gln1779His) c.5268G>T (p.Gln1756His) c.5136G>T (p.Gln1712His) c.5169G>T (p.Gln1723His) c.1560G>T n.3219G>T c.3991G>T c.5196G>T (p.Gln1732His) n.934G>T c.5139G>T (p.Gln1713His) c.5205G>T (p.Gln1735His) c.5130G>T (p.Gln1710His) n.2985G>T c.5262G>T (p.Gln1754His) c.5208G>T (p.Gln1736His) c.5223G>T (p.Gln1741His) c.5133G>T (p.Gln1711His) c.5258G>T n.3421G>T c.5331G>T (p.Gln1777His) n.4152G>T n.2589G>T n.2560G>T n.2450G>T c.4992G>T (p.Gln1664His) c.*4504G>T (n.*4504G>T) c.5028G>T (p.Gln1676His) n.3060G>T c.1519G>T n.2452G>T c.5391G>T (p.Gln1797His) c.5388G>T (p.Gln1796His) c.5280G>T (p.Gln1760His) c.5259G>T (p.Gln1753His) c.4605G>T (p.Gln1535His) c.5553G>T (p.Gln1851His) c.5301G>T (p.Gln1767His) c.4047G>T (p.Gln1349His) | |
16 | g.2088524A= | CA2202033981 | TSC2 | c.*3687A= (n.*3687A=) c.5185A= (p.Thr1729=) c.5335A= (p.Thr1779=) c.*5851A= (n.*5851A=) c.*8087A= (n.*8087A=) c.5338A= (p.Thr1780=) c.5269A= (p.Thr1757=) c.5137A= (p.Thr1713=) c.5170A= (p.Thr1724=) c.1561A= n.3220A= c.3992A= c.5197A= (p.Thr1733=) n.935A= c.5140A= (p.Thr1714=) c.5206A= (p.Thr1736=) c.5131A= (p.Thr1711=) n.2986A= c.5263A= (p.Thr1755=) c.5209A= (p.Thr1737=) c.5224A= (p.Thr1742=) c.5134A= (p.Thr1712=) c.5259A= n.3422A= c.5332A= (p.Thr1778=) n.4153A= n.2590A= n.2561A= n.2451A= c.4993A= (p.Thr1665=) c.*4505A= (n.*4505A=) c.5029A= (p.Thr1677=) n.3061A= c.1520A= n.2453A= c.5392A= (p.Thr1798=) c.5389A= (p.Thr1797=) c.5281A= (p.Thr1761=) c.5260A= (p.Thr1754=) c.4606A= (p.Thr1536=) c.5554A= (p.Thr1852=) c.5302A= (p.Thr1768=) c.4048A= (p.Thr1350=) | |
16 | g.2088524A>C | CA276760048 | TSC2 | c.*3687A>C (n.*3687A>C) c.5185A>C (p.Thr1729Pro) c.5335A>C (p.Thr1779Pro) c.*5851A>C (n.*5851A>C) c.*8087A>C (n.*8087A>C) c.5338A>C (p.Thr1780Pro) c.5269A>C (p.Thr1757Pro) c.5137A>C (p.Thr1713Pro) c.5170A>C (p.Thr1724Pro) c.1561A>C n.3220A>C c.3992A>C c.5197A>C (p.Thr1733Pro) n.935A>C c.5140A>C (p.Thr1714Pro) c.5206A>C (p.Thr1736Pro) c.5131A>C (p.Thr1711Pro) n.2986A>C c.5263A>C (p.Thr1755Pro) c.5209A>C (p.Thr1737Pro) c.5224A>C (p.Thr1742Pro) c.5134A>C (p.Thr1712Pro) c.5259A>C n.3422A>C c.5332A>C (p.Thr1778Pro) n.4153A>C n.2590A>C n.2561A>C n.2451A>C c.4993A>C (p.Thr1665Pro) c.*4505A>C (n.*4505A>C) c.5029A>C (p.Thr1677Pro) n.3061A>C c.1520A>C n.2453A>C c.5392A>C (p.Thr1798Pro) c.5389A>C (p.Thr1797Pro) c.5281A>C (p.Thr1761Pro) c.5260A>C (p.Thr1754Pro) c.4606A>C (p.Thr1536Pro) c.5554A>C (p.Thr1852Pro) c.5302A>C (p.Thr1768Pro) c.4048A>C (p.Thr1350Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.2088524A>G | CA394315648 | TSC2 | c.*3687A>G (n.*3687A>G) c.5185A>G (p.Thr1729Ala) c.5335A>G (p.Thr1779Ala) c.*5851A>G (n.*5851A>G) c.*8087A>G (n.*8087A>G) c.5338A>G (p.Thr1780Ala) c.5269A>G (p.Thr1757Ala) c.5137A>G (p.Thr1713Ala) c.5170A>G (p.Thr1724Ala) c.1561A>G n.3220A>G c.3992A>G c.5197A>G (p.Thr1733Ala) n.935A>G c.5140A>G (p.Thr1714Ala) c.5206A>G (p.Thr1736Ala) c.5131A>G (p.Thr1711Ala) n.2986A>G c.5263A>G (p.Thr1755Ala) c.5209A>G (p.Thr1737Ala) c.5224A>G (p.Thr1742Ala) c.5134A>G (p.Thr1712Ala) c.5259A>G n.3422A>G c.5332A>G (p.Thr1778Ala) n.4153A>G n.2590A>G n.2561A>G n.2451A>G c.4993A>G (p.Thr1665Ala) c.*4505A>G (n.*4505A>G) c.5029A>G (p.Thr1677Ala) n.3061A>G c.1520A>G n.2453A>G c.5392A>G (p.Thr1798Ala) c.5389A>G (p.Thr1797Ala) c.5281A>G (p.Thr1761Ala) c.5260A>G (p.Thr1754Ala) c.4606A>G (p.Thr1536Ala) c.5554A>G (p.Thr1852Ala) c.5302A>G (p.Thr1768Ala) c.4048A>G (p.Thr1350Ala) | ClinVar gnomAD v4 |
16 | g.2088524A>T | CA394315653 | TSC2 | c.*3687A>T (n.*3687A>T) c.5185A>T (p.Thr1729Ser) c.5335A>T (p.Thr1779Ser) c.*5851A>T (n.*5851A>T) c.*8087A>T (n.*8087A>T) c.5338A>T (p.Thr1780Ser) c.5269A>T (p.Thr1757Ser) c.5137A>T (p.Thr1713Ser) c.5170A>T (p.Thr1724Ser) c.1561A>T n.3220A>T c.3992A>T c.5197A>T (p.Thr1733Ser) n.935A>T c.5140A>T (p.Thr1714Ser) c.5206A>T (p.Thr1736Ser) c.5131A>T (p.Thr1711Ser) n.2986A>T c.5263A>T (p.Thr1755Ser) c.5209A>T (p.Thr1737Ser) c.5224A>T (p.Thr1742Ser) c.5134A>T (p.Thr1712Ser) c.5259A>T n.3422A>T c.5332A>T (p.Thr1778Ser) n.4153A>T n.2590A>T n.2561A>T n.2451A>T c.4993A>T (p.Thr1665Ser) c.*4505A>T (n.*4505A>T) c.5029A>T (p.Thr1677Ser) n.3061A>T c.1520A>T n.2453A>T c.5392A>T (p.Thr1798Ser) c.5389A>T (p.Thr1797Ser) c.5281A>T (p.Thr1761Ser) c.5260A>T (p.Thr1754Ser) c.4606A>T (p.Thr1536Ser) c.5554A>T (p.Thr1852Ser) c.5302A>T (p.Thr1768Ser) c.4048A>T (p.Thr1350Ser) | |
16 | g.2088524_2088526delinsACT | CA2202033986 | TSC2 | c.*3687_*3689delinsACT (n.*3687_*3689delinsACT) c.5185_5187delinsACT (p.Thr1729=) c.5335_5337delinsACT (p.Thr1779=) c.*5851_*5853delinsACT (n.*5851_*5853delinsACT) c.*8087_*8089delinsACT (n.*8087_*8089delinsACT) c.5338_5340delinsACT (p.Thr1780=) c.5269_5271delinsACT (p.Thr1757=) c.5137_5139delinsACT (p.Thr1713=) c.5170_5172delinsACT (p.Thr1724=) c.1561_1563delinsACT n.3220_3222delinsACT c.3992_3994delinsACT c.5197_5199delinsACT (p.Thr1733=) n.935_937delinsACT c.5140_5142delinsACT (p.Thr1714=) c.5206_5208delinsACT (p.Thr1736=) c.5131_5133delinsACT (p.Thr1711=) n.2986_2988delinsACT c.5263_5265delinsACT (p.Thr1755=) c.5209_5211delinsACT (p.Thr1737=) c.5224_5226delinsACT (p.Thr1742=) c.5134_5136delinsACT (p.Thr1712=) c.5259_5261delinsACT n.3422_3424delinsACT c.5332_5334delinsACT (p.Thr1778=) n.4153_4155delinsACT n.2590_2592delinsACT n.2561_2563delinsACT n.2451_2453delinsACT c.4993_4995delinsACT (p.Thr1665=) c.*4505_*4507delinsACT (n.*4505_*4507delinsACT) c.5029_5031delinsACT (p.Thr1677=) n.3061_3063delinsACT c.1520_1522delinsACT n.2453_2455delinsACT c.5392_5394delinsACT (p.Thr1798=) c.5389_5391delinsACT (p.Thr1797=) c.5281_5283delinsACT (p.Thr1761=) c.5260_5262delinsACT (p.Thr1754=) c.4606_4608delinsACT (p.Thr1536=) c.5554_5556delinsACT (p.Thr1852=) c.5302_5304delinsACT (p.Thr1768=) c.4048_4050delinsACT (p.Thr1350=) | |
16 | g.2088526_2088540dup | CA2580091203 | TSC2 | c.*3689_*3703dup (n.*3689_*3703dup) c.5187_5201dup (p.Thr1734_Pro1735insProAlaGluProThr) c.5337_5351dup (p.Thr1784_Pro1785insProAlaGluProThr) c.*5853_*5867dup (n.*5853_*5867dup) c.*8089_*8103dup (n.*8089_*8103dup) c.5340_5354dup (p.Thr1785_Pro1786insProAlaGluProThr) c.5271_5285dup (p.Thr1762_Pro1763insProAlaGluProThr) c.5139_5153dup (p.Thr1718_Pro1719insProAlaGluProThr) c.5172_5186dup (p.Thr1729_Pro1730insProAlaGluProThr) c.1563_1577dup n.3222_3236dup c.3994_4008dup c.5199_5213dup (p.Thr1738_Pro1739insProAlaGluProThr) n.937_951dup c.5142_5156dup (p.Thr1719_Pro1720insProAlaGluProThr) c.5208_5222dup (p.Thr1741_Pro1742insProAlaGluProThr) c.5133_5147dup (p.Thr1716_Pro1717insProAlaGluProThr) n.2988_3002dup c.5265_5279dup (p.Thr1760_Pro1761insProAlaGluProThr) c.5211_5225dup (p.Thr1742_Pro1743insProAlaGluProThr) c.5226_5240dup (p.Thr1747_Pro1748insProAlaGluProThr) c.5136_5150dup (p.Thr1717_Pro1718insProAlaGluProThr) c.5261_5275dup n.3424_3438dup c.5334_5348dup (p.Thr1783_Pro1784insProAlaGluProThr) n.4155_4169dup n.2592_2606dup n.2563_2577dup n.2453_2467dup c.4995_5009dup (p.Thr1670_Pro1671insProAlaGluProThr) c.*4507_*4521dup (n.*4507_*4521dup) c.5031_5045dup (p.Thr1682_Pro1683insProAlaGluProThr) n.3063_3077dup c.1522_1536dup n.2455_2469dup c.5394_5408dup (p.Thr1803_Pro1804insProAlaGluProThr) c.5391_5405dup (p.Thr1802_Pro1803insProAlaGluProThr) c.5283_5297dup (p.Thr1766_Pro1767insProAlaGluProThr) c.5262_5276dup (p.Thr1759_Pro1760insProAlaGluProThr) c.4608_4622dup (p.Thr1541_Pro1542insProAlaGluProThr) c.5556_5570dup (p.Thr1857_Pro1858insProAlaGluProThr) c.5304_5318dup (p.Thr1773_Pro1774insProAlaGluProThr) c.4050_4064dup (p.Thr1355_Pro1356insProAlaGluProThr) | ClinVar |
16 | g.2088525C>A | CA394315654 | TSC2 | c.*3688C>A (n.*3688C>A) c.5186C>A (p.Thr1729Asn) c.5336C>A (p.Thr1779Asn) c.*5852C>A (n.*5852C>A) c.*8088C>A (n.*8088C>A) c.5339C>A (p.Thr1780Asn) c.5270C>A (p.Thr1757Asn) c.5138C>A (p.Thr1713Asn) c.5171C>A (p.Thr1724Asn) c.1562C>A n.3221C>A c.3993C>A c.5198C>A (p.Thr1733Asn) n.936C>A c.5141C>A (p.Thr1714Asn) c.5207C>A (p.Thr1736Asn) c.5132C>A (p.Thr1711Asn) n.2987C>A c.5264C>A (p.Thr1755Asn) c.5210C>A (p.Thr1737Asn) c.5225C>A (p.Thr1742Asn) c.5135C>A (p.Thr1712Asn) c.5260C>A n.3423C>A c.5333C>A (p.Thr1778Asn) n.4154C>A n.2591C>A n.2562C>A n.2452C>A c.4994C>A (p.Thr1665Asn) c.*4506C>A (n.*4506C>A) c.5030C>A (p.Thr1677Asn) n.3062C>A c.1521C>A n.2454C>A c.5393C>A (p.Thr1798Asn) c.5390C>A (p.Thr1797Asn) c.5282C>A (p.Thr1761Asn) c.5261C>A (p.Thr1754Asn) c.4607C>A (p.Thr1536Asn) c.5555C>A (p.Thr1852Asn) c.5303C>A (p.Thr1768Asn) c.4049C>A (p.Thr1350Asn) | |
16 | g.2088525C= | CA2202033997 | TSC2 | c.*3688C= (n.*3688C=) c.5186C= (p.Thr1729=) c.5336C= (p.Thr1779=) c.*5852C= (n.*5852C=) c.*8088C= (n.*8088C=) c.5339C= (p.Thr1780=) c.5270C= (p.Thr1757=) c.5138C= (p.Thr1713=) c.5171C= (p.Thr1724=) c.1562C= n.3221C= c.3993C= c.5198C= (p.Thr1733=) n.936C= c.5141C= (p.Thr1714=) c.5207C= (p.Thr1736=) c.5132C= (p.Thr1711=) n.2987C= c.5264C= (p.Thr1755=) c.5210C= (p.Thr1737=) c.5225C= (p.Thr1742=) c.5135C= (p.Thr1712=) c.5260C= n.3423C= c.5333C= (p.Thr1778=) n.4154C= n.2591C= n.2562C= n.2452C= c.4994C= (p.Thr1665=) c.*4506C= (n.*4506C=) c.5030C= (p.Thr1677=) n.3062C= c.1521C= n.2454C= c.5393C= (p.Thr1798=) c.5390C= (p.Thr1797=) c.5282C= (p.Thr1761=) c.5261C= (p.Thr1754=) c.4607C= (p.Thr1536=) c.5555C= (p.Thr1852=) c.5303C= (p.Thr1768=) c.4049C= (p.Thr1350=) | |
16 | g.2088525C>G | CA394315669 | TSC2 | c.*3688C>G (n.*3688C>G) c.5186C>G (p.Thr1729Ser) c.5336C>G (p.Thr1779Ser) c.*5852C>G (n.*5852C>G) c.*8088C>G (n.*8088C>G) c.5339C>G (p.Thr1780Ser) c.5270C>G (p.Thr1757Ser) c.5138C>G (p.Thr1713Ser) c.5171C>G (p.Thr1724Ser) c.1562C>G n.3221C>G c.3993C>G c.5198C>G (p.Thr1733Ser) n.936C>G c.5141C>G (p.Thr1714Ser) c.5207C>G (p.Thr1736Ser) c.5132C>G (p.Thr1711Ser) n.2987C>G c.5264C>G (p.Thr1755Ser) c.5210C>G (p.Thr1737Ser) c.5225C>G (p.Thr1742Ser) c.5135C>G (p.Thr1712Ser) c.5260C>G n.3423C>G c.5333C>G (p.Thr1778Ser) n.4154C>G n.2591C>G n.2562C>G n.2452C>G c.4994C>G (p.Thr1665Ser) c.*4506C>G (n.*4506C>G) c.5030C>G (p.Thr1677Ser) n.3062C>G c.1521C>G n.2454C>G c.5393C>G (p.Thr1798Ser) c.5390C>G (p.Thr1797Ser) c.5282C>G (p.Thr1761Ser) c.5261C>G (p.Thr1754Ser) c.4607C>G (p.Thr1536Ser) c.5555C>G (p.Thr1852Ser) c.5303C>G (p.Thr1768Ser) c.4049C>G (p.Thr1350Ser) | |
16 | g.2088525C>T | CA055164 | TSC2 | c.*3688C>T (n.*3688C>T) c.5186C>T (p.Thr1729Ile) c.5336C>T (p.Thr1779Ile) c.*5852C>T (n.*5852C>T) c.*8088C>T (n.*8088C>T) c.5339C>T (p.Thr1780Ile) c.5270C>T (p.Thr1757Ile) c.5138C>T (p.Thr1713Ile) c.5171C>T (p.Thr1724Ile) c.1562C>T n.3221C>T c.3993C>T c.5198C>T (p.Thr1733Ile) n.936C>T c.5141C>T (p.Thr1714Ile) c.5207C>T (p.Thr1736Ile) c.5132C>T (p.Thr1711Ile) n.2987C>T c.5264C>T (p.Thr1755Ile) c.5210C>T (p.Thr1737Ile) c.5225C>T (p.Thr1742Ile) c.5135C>T (p.Thr1712Ile) c.5260C>T n.3423C>T c.5333C>T (p.Thr1778Ile) n.4154C>T n.2591C>T n.2562C>T n.2452C>T c.4994C>T (p.Thr1665Ile) c.*4506C>T (n.*4506C>T) c.5030C>T (p.Thr1677Ile) n.3062C>T c.1521C>T n.2454C>T c.5393C>T (p.Thr1798Ile) c.5390C>T (p.Thr1797Ile) c.5282C>T (p.Thr1761Ile) c.5261C>T (p.Thr1754Ile) c.4607C>T (p.Thr1536Ile) c.5555C>T (p.Thr1852Ile) c.5303C>T (p.Thr1768Ile) c.4049C>T (p.Thr1350Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088526_2088527del | CA620705134 | TSC2 | c.*3689_*3690del (n.*3689_*3690del) c.5187_5188del (p.Pro1730SerfsTer8) c.5337_5338del (p.Pro1780SerfsTer8) c.*5853_*5854del (n.*5853_*5854del) c.*8089_*8090del (n.*8089_*8090del) c.5340_5341del (p.Pro1781SerfsTer8) c.5271_5272del (p.Pro1758SerfsTer8) c.5139_5140del (p.Pro1714SerfsTer8) c.5172_5173del (p.Pro1725SerfsTer8) c.1563_1564del n.3222_3223del c.3994_3995del c.5199_5200del (p.Pro1734SerfsTer8) n.937_938del c.5142_5143del (p.Pro1715SerfsTer8) c.5208_5209del (p.Pro1737SerfsTer8) c.5133_5134del (p.Pro1712SerfsTer8) n.2988_2989del c.5265_5266del (p.Pro1756SerfsTer8) c.5211_5212del (p.Pro1738SerfsTer8) c.5226_5227del (p.Pro1743SerfsTer8) c.5136_5137del (p.Pro1713SerfsTer8) c.5261_5262del n.3424_3425del c.5334_5335del (p.Pro1779SerfsTer8) n.4155_4156del n.2592_2593del n.2563_2564del n.2453_2454del c.4995_4996del (p.Pro1666SerfsTer8) c.*4507_*4508del (n.*4507_*4508del) c.5031_5032del (p.Pro1678SerfsTer8) n.3063_3064del c.1522_1523del n.2455_2456del c.5394_5395del (p.Pro1799SerfsTer8) c.5391_5392del (p.Pro1798SerfsTer8) c.5283_5284del (p.Pro1762SerfsTer8) c.5262_5263del (p.Pro1755SerfsTer8) c.4608_4609del (p.Pro1537SerfsTer8) c.5556_5557del (p.Pro1853SerfsTer8) c.5304_5305del (p.Pro1769SerfsTer8) c.4050_4051del (p.Pro1351SerfsTer8) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088525_2088557delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG | CA2202033996 | TSC2 | c.*3688_*3720delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (n.*3688_*3720delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG) c.5186_5218delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1729=) c.5336_5368delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1779=) c.*5852_*5884delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (n.*5852_*5884delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG) c.*8088_*8120delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (n.*8088_*8120delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG) c.5339_5371delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1780=) c.5270_5302delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1757=) c.5138_5170delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1713=) c.5171_5203delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1724=) c.1562_1594delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG n.3221_3253delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG c.3993_4025delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG c.5198_5230delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1733=) n.936_968delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG c.5141_5173delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1714=) c.5207_5239delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1736=) c.5132_5164delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1711=) n.2987_3019delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG c.5264_5296delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1755=) c.5210_5242delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1737=) c.5225_5257delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1742=) c.5135_5167delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1712=) c.5260_5292delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG n.3423_3455delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG c.5333_5365delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1778=) n.4154_4186delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG n.2591_2623delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG n.2562_2594delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG n.2452_2484delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG c.4994_5026delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1665=) c.*4506_*4538delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (n.*4506_*4538delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG) c.5030_5062delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1677=) n.3062_3094delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG c.1521_1553delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG n.2454_2486delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG c.5393_5425delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1798=) c.5390_5422delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1797=) c.5282_5314delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1761=) c.5261_5293delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1754=) c.4607_4639delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1536=) c.5555_5587delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1852=) c.5303_5335delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1768=) c.4049_4081delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1350=) | |
16 | g.2088526T>A | CA493043715 | TSC2 | c.*3689T>A (n.*3689T>A) c.5187T>A (p.Thr1729=) c.5337T>A (p.Thr1779=) c.*5853T>A (n.*5853T>A) c.*8089T>A (n.*8089T>A) c.5340T>A (p.Thr1780=) c.5271T>A (p.Thr1757=) c.5139T>A (p.Thr1713=) c.5172T>A (p.Thr1724=) c.1563T>A n.3222T>A c.3994T>A c.5199T>A (p.Thr1733=) n.937T>A c.5142T>A (p.Thr1714=) c.5208T>A (p.Thr1736=) c.5133T>A (p.Thr1711=) n.2988T>A c.5265T>A (p.Thr1755=) c.5211T>A (p.Thr1737=) c.5226T>A (p.Thr1742=) c.5136T>A (p.Thr1712=) c.5261T>A n.3424T>A c.5334T>A (p.Thr1778=) n.4155T>A n.2592T>A n.2563T>A n.2453T>A c.4995T>A (p.Thr1665=) c.*4507T>A (n.*4507T>A) c.5031T>A (p.Thr1677=) n.3063T>A c.1522T>A n.2455T>A c.5394T>A (p.Thr1798=) c.5391T>A (p.Thr1797=) c.5283T>A (p.Thr1761=) c.5262T>A (p.Thr1754=) c.4608T>A (p.Thr1536=) c.5556T>A (p.Thr1852=) c.5304T>A (p.Thr1768=) c.4050T>A (p.Thr1350=) | ClinVar dbSNP |
16 | g.2088526T>C | CA493043716 | TSC2 | c.*3689T>C (n.*3689T>C) c.5187T>C (p.Thr1729=) c.5337T>C (p.Thr1779=) c.*5853T>C (n.*5853T>C) c.*8089T>C (n.*8089T>C) c.5340T>C (p.Thr1780=) c.5271T>C (p.Thr1757=) c.5139T>C (p.Thr1713=) c.5172T>C (p.Thr1724=) c.1563T>C n.3222T>C c.3994T>C c.5199T>C (p.Thr1733=) n.937T>C c.5142T>C (p.Thr1714=) c.5208T>C (p.Thr1736=) c.5133T>C (p.Thr1711=) n.2988T>C c.5265T>C (p.Thr1755=) c.5211T>C (p.Thr1737=) c.5226T>C (p.Thr1742=) c.5136T>C (p.Thr1712=) c.5261T>C n.3424T>C c.5334T>C (p.Thr1778=) n.4155T>C n.2592T>C n.2563T>C n.2453T>C c.4995T>C (p.Thr1665=) c.*4507T>C (n.*4507T>C) c.5031T>C (p.Thr1677=) n.3063T>C c.1522T>C n.2455T>C c.5394T>C (p.Thr1798=) c.5391T>C (p.Thr1797=) c.5283T>C (p.Thr1761=) c.5262T>C (p.Thr1754=) c.4608T>C (p.Thr1536=) c.5556T>C (p.Thr1852=) c.5304T>C (p.Thr1768=) c.4050T>C (p.Thr1350=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088526T>G | CA493043717 | TSC2 | c.*3689T>G (n.*3689T>G) c.5187T>G (p.Thr1729=) c.5337T>G (p.Thr1779=) c.*5853T>G (n.*5853T>G) c.*8089T>G (n.*8089T>G) c.5340T>G (p.Thr1780=) c.5271T>G (p.Thr1757=) c.5139T>G (p.Thr1713=) c.5172T>G (p.Thr1724=) c.1563T>G n.3222T>G c.3994T>G c.5199T>G (p.Thr1733=) n.937T>G c.5142T>G (p.Thr1714=) c.5208T>G (p.Thr1736=) c.5133T>G (p.Thr1711=) n.2988T>G c.5265T>G (p.Thr1755=) c.5211T>G (p.Thr1737=) c.5226T>G (p.Thr1742=) c.5136T>G (p.Thr1712=) c.5261T>G n.3424T>G c.5334T>G (p.Thr1778=) n.4155T>G n.2592T>G n.2563T>G n.2453T>G c.4995T>G (p.Thr1665=) c.*4507T>G (n.*4507T>G) c.5031T>G (p.Thr1677=) n.3063T>G c.1522T>G n.2455T>G c.5394T>G (p.Thr1798=) c.5391T>G (p.Thr1797=) c.5283T>G (p.Thr1761=) c.5262T>G (p.Thr1754=) c.4608T>G (p.Thr1536=) c.5556T>G (p.Thr1852=) c.5304T>G (p.Thr1768=) c.4050T>G (p.Thr1350=) | ClinVar dbSNP |
16 | g.2088526T= | CA2202034009 | TSC2 | c.*3689T= (n.*3689T=) c.5187T= (p.Thr1729=) c.5337T= (p.Thr1779=) c.*5853T= (n.*5853T=) c.*8089T= (n.*8089T=) c.5340T= (p.Thr1780=) c.5271T= (p.Thr1757=) c.5139T= (p.Thr1713=) c.5172T= (p.Thr1724=) c.1563T= n.3222T= c.3994T= c.5199T= (p.Thr1733=) n.937T= c.5142T= (p.Thr1714=) c.5208T= (p.Thr1736=) c.5133T= (p.Thr1711=) n.2988T= c.5265T= (p.Thr1755=) c.5211T= (p.Thr1737=) c.5226T= (p.Thr1742=) c.5136T= (p.Thr1712=) c.5261T= n.3424T= c.5334T= (p.Thr1778=) n.4155T= n.2592T= n.2563T= n.2453T= c.4995T= (p.Thr1665=) c.*4507T= (n.*4507T=) c.5031T= (p.Thr1677=) n.3063T= c.1522T= n.2455T= c.5394T= (p.Thr1798=) c.5391T= (p.Thr1797=) c.5283T= (p.Thr1761=) c.5262T= (p.Thr1754=) c.4608T= (p.Thr1536=) c.5556T= (p.Thr1852=) c.5304T= (p.Thr1768=) c.4050T= (p.Thr1350=) | |
16 | g.2088526_2088557del | CA022400 | TSC2 | c.*3689_*3720del (n.*3689_*3720del) c.5187_5218del (p.Pro1733AlafsTer?) c.5337_5368del (p.Pro1783AlafsTer?) c.*5853_*5884del (n.*5853_*5884del) c.*8089_*8120del (n.*8089_*8120del) c.5340_5371del (p.Pro1784AlafsTer?) c.5271_5302del (p.Pro1761AlafsTer?) c.5139_5170del (p.Pro1717AlafsTer?) c.5172_5203del (p.Pro1728AlafsTer?) c.1563_1594del n.3222_3253del c.3994_4025del c.5199_5230del (p.Pro1737AlafsTer?) n.937_968del c.5142_5173del (p.Pro1718AlafsTer?) c.5208_5239del (p.Pro1740AlafsTer?) c.5133_5164del (p.Pro1715AlafsTer?) n.2988_3019del c.5265_5296del (p.Pro1759AlafsTer?) c.5211_5242del (p.Pro1741AlafsTer?) c.5226_5257del (p.Pro1746AlafsTer?) c.5136_5167del (p.Pro1716AlafsTer?) c.5261_5292del n.3424_3455del c.5334_5365del (p.Pro1782AlafsTer?) n.4155_4186del n.2592_2623del n.2563_2594del n.2453_2484del c.4995_5026del (p.Pro1669AlafsTer?) c.*4507_*4538del (n.*4507_*4538del) c.5031_5062del (p.Pro1681AlafsTer?) n.3063_3094del c.1522_1553del n.2455_2486del c.5394_5425del (p.Pro1802AlafsTer?) c.5391_5422del (p.Pro1801AlafsTer?) c.5283_5314del (p.Pro1765AlafsTer?) c.5262_5293del (p.Pro1758AlafsTer?) c.4608_4639del (p.Pro1540AlafsTer?) c.5556_5587del (p.Pro1856AlafsTer?) c.5304_5335del (p.Pro1772AlafsTer?) c.4050_4081del (p.Pro1354AlafsTer?) | ClinVar dbSNP |
16 | g.2088527C>A | CA394315676 | TSC2 | c.*3690C>A (n.*3690C>A) c.5188C>A (p.Pro1730Thr) c.5338C>A (p.Pro1780Thr) c.*5854C>A (n.*5854C>A) c.*8090C>A (n.*8090C>A) c.5341C>A (p.Pro1781Thr) c.5272C>A (p.Pro1758Thr) c.5140C>A (p.Pro1714Thr) c.5173C>A (p.Pro1725Thr) c.1564C>A n.3223C>A c.3995C>A c.5200C>A (p.Pro1734Thr) n.938C>A c.5143C>A (p.Pro1715Thr) c.5209C>A (p.Pro1737Thr) c.5134C>A (p.Pro1712Thr) n.2989C>A c.5266C>A (p.Pro1756Thr) c.5212C>A (p.Pro1738Thr) c.5227C>A (p.Pro1743Thr) c.5137C>A (p.Pro1713Thr) c.5262C>A n.3425C>A c.5335C>A (p.Pro1779Thr) n.4156C>A n.2593C>A n.2564C>A n.2454C>A c.4996C>A (p.Pro1666Thr) c.*4508C>A (n.*4508C>A) c.5032C>A (p.Pro1678Thr) n.3064C>A c.1523C>A n.2456C>A c.5395C>A (p.Pro1799Thr) c.5392C>A (p.Pro1798Thr) c.5284C>A (p.Pro1762Thr) c.5263C>A (p.Pro1755Thr) c.4609C>A (p.Pro1537Thr) c.5557C>A (p.Pro1853Thr) c.5305C>A (p.Pro1769Thr) c.4051C>A (p.Pro1351Thr) | ClinVar dbSNP |
16 | g.2088527C= | CA2202034016 | TSC2 | c.*3690C= (n.*3690C=) c.5188C= (p.Pro1730=) c.5338C= (p.Pro1780=) c.*5854C= (n.*5854C=) c.*8090C= (n.*8090C=) c.5341C= (p.Pro1781=) c.5272C= (p.Pro1758=) c.5140C= (p.Pro1714=) c.5173C= (p.Pro1725=) c.1564C= n.3223C= c.3995C= c.5200C= (p.Pro1734=) n.938C= c.5143C= (p.Pro1715=) c.5209C= (p.Pro1737=) c.5134C= (p.Pro1712=) n.2989C= c.5266C= (p.Pro1756=) c.5212C= (p.Pro1738=) c.5227C= (p.Pro1743=) c.5137C= (p.Pro1713=) c.5262C= n.3425C= c.5335C= (p.Pro1779=) n.4156C= n.2593C= n.2564C= n.2454C= c.4996C= (p.Pro1666=) c.*4508C= (n.*4508C=) c.5032C= (p.Pro1678=) n.3064C= c.1523C= n.2456C= c.5395C= (p.Pro1799=) c.5392C= (p.Pro1798=) c.5284C= (p.Pro1762=) c.5263C= (p.Pro1755=) c.4609C= (p.Pro1537=) c.5557C= (p.Pro1853=) c.5305C= (p.Pro1769=) c.4051C= (p.Pro1351=) | |
16 | g.2088527C>G | CA394315679 | TSC2 | c.*3690C>G (n.*3690C>G) c.5188C>G (p.Pro1730Ala) c.5338C>G (p.Pro1780Ala) c.*5854C>G (n.*5854C>G) c.*8090C>G (n.*8090C>G) c.5341C>G (p.Pro1781Ala) c.5272C>G (p.Pro1758Ala) c.5140C>G (p.Pro1714Ala) c.5173C>G (p.Pro1725Ala) c.1564C>G n.3223C>G c.3995C>G c.5200C>G (p.Pro1734Ala) n.938C>G c.5143C>G (p.Pro1715Ala) c.5209C>G (p.Pro1737Ala) c.5134C>G (p.Pro1712Ala) n.2989C>G c.5266C>G (p.Pro1756Ala) c.5212C>G (p.Pro1738Ala) c.5227C>G (p.Pro1743Ala) c.5137C>G (p.Pro1713Ala) c.5262C>G n.3425C>G c.5335C>G (p.Pro1779Ala) n.4156C>G n.2593C>G n.2564C>G n.2454C>G c.4996C>G (p.Pro1666Ala) c.*4508C>G (n.*4508C>G) c.5032C>G (p.Pro1678Ala) n.3064C>G c.1523C>G n.2456C>G c.5395C>G (p.Pro1799Ala) c.5392C>G (p.Pro1798Ala) c.5284C>G (p.Pro1762Ala) c.5263C>G (p.Pro1755Ala) c.4609C>G (p.Pro1537Ala) c.5557C>G (p.Pro1853Ala) c.5305C>G (p.Pro1769Ala) c.4051C>G (p.Pro1351Ala) | ClinVar dbSNP |
16 | g.2088527C>T | CA394315682 | TSC2 | c.*3690C>T (n.*3690C>T) c.5188C>T (p.Pro1730Ser) c.5338C>T (p.Pro1780Ser) c.*5854C>T (n.*5854C>T) c.*8090C>T (n.*8090C>T) c.5341C>T (p.Pro1781Ser) c.5272C>T (p.Pro1758Ser) c.5140C>T (p.Pro1714Ser) c.5173C>T (p.Pro1725Ser) c.1564C>T n.3223C>T c.3995C>T c.5200C>T (p.Pro1734Ser) n.938C>T c.5143C>T (p.Pro1715Ser) c.5209C>T (p.Pro1737Ser) c.5134C>T (p.Pro1712Ser) n.2989C>T c.5266C>T (p.Pro1756Ser) c.5212C>T (p.Pro1738Ser) c.5227C>T (p.Pro1743Ser) c.5137C>T (p.Pro1713Ser) c.5262C>T n.3425C>T c.5335C>T (p.Pro1779Ser) n.4156C>T n.2593C>T n.2564C>T n.2454C>T c.4996C>T (p.Pro1666Ser) c.*4508C>T (n.*4508C>T) c.5032C>T (p.Pro1678Ser) n.3064C>T c.1523C>T n.2456C>T c.5395C>T (p.Pro1799Ser) c.5392C>T (p.Pro1798Ser) c.5284C>T (p.Pro1762Ser) c.5263C>T (p.Pro1755Ser) c.4609C>T (p.Pro1537Ser) c.5557C>T (p.Pro1853Ser) c.5305C>T (p.Pro1769Ser) c.4051C>T (p.Pro1351Ser) | |
16 | g.2088528C>A | CA394315685 | TSC2 | c.*3691C>A (n.*3691C>A) c.5189C>A (p.Pro1730Gln) c.5339C>A (p.Pro1780Gln) c.*5855C>A (n.*5855C>A) c.*8091C>A (n.*8091C>A) c.5342C>A (p.Pro1781Gln) c.5273C>A (p.Pro1758Gln) c.5141C>A (p.Pro1714Gln) c.5174C>A (p.Pro1725Gln) c.1565C>A n.3224C>A c.3996C>A c.5201C>A (p.Pro1734Gln) n.939C>A c.5144C>A (p.Pro1715Gln) c.5210C>A (p.Pro1737Gln) c.5135C>A (p.Pro1712Gln) n.2990C>A c.5267C>A (p.Pro1756Gln) c.5213C>A (p.Pro1738Gln) c.5228C>A (p.Pro1743Gln) c.5138C>A (p.Pro1713Gln) c.5263C>A n.3426C>A c.5336C>A (p.Pro1779Gln) n.4157C>A n.2594C>A n.2565C>A n.2455C>A c.4997C>A (p.Pro1666Gln) c.*4509C>A (n.*4509C>A) c.5033C>A (p.Pro1678Gln) n.3065C>A c.1524C>A n.2457C>A c.5396C>A (p.Pro1799Gln) c.5393C>A (p.Pro1798Gln) c.5285C>A (p.Pro1762Gln) c.5264C>A (p.Pro1755Gln) c.4610C>A (p.Pro1537Gln) c.5558C>A (p.Pro1853Gln) c.5306C>A (p.Pro1769Gln) c.4052C>A (p.Pro1351Gln) | |
16 | g.2088528C= | CA2202034022 | TSC2 | c.*3691C= (n.*3691C=) c.5189C= (p.Pro1730=) c.5339C= (p.Pro1780=) c.*5855C= (n.*5855C=) c.*8091C= (n.*8091C=) c.5342C= (p.Pro1781=) c.5273C= (p.Pro1758=) c.5141C= (p.Pro1714=) c.5174C= (p.Pro1725=) c.1565C= n.3224C= c.3996C= c.5201C= (p.Pro1734=) n.939C= c.5144C= (p.Pro1715=) c.5210C= (p.Pro1737=) c.5135C= (p.Pro1712=) n.2990C= c.5267C= (p.Pro1756=) c.5213C= (p.Pro1738=) c.5228C= (p.Pro1743=) c.5138C= (p.Pro1713=) c.5263C= n.3426C= c.5336C= (p.Pro1779=) n.4157C= n.2594C= n.2565C= n.2455C= c.4997C= (p.Pro1666=) c.*4509C= (n.*4509C=) c.5033C= (p.Pro1678=) n.3065C= c.1524C= n.2457C= c.5396C= (p.Pro1799=) c.5393C= (p.Pro1798=) c.5285C= (p.Pro1762=) c.5264C= (p.Pro1755=) c.4610C= (p.Pro1537=) c.5558C= (p.Pro1853=) c.5306C= (p.Pro1769=) c.4052C= (p.Pro1351=) | |
16 | g.2088528C>G | CA394315686 | TSC2 | c.*3691C>G (n.*3691C>G) c.5189C>G (p.Pro1730Arg) c.5339C>G (p.Pro1780Arg) c.*5855C>G (n.*5855C>G) c.*8091C>G (n.*8091C>G) c.5342C>G (p.Pro1781Arg) c.5273C>G (p.Pro1758Arg) c.5141C>G (p.Pro1714Arg) c.5174C>G (p.Pro1725Arg) c.1565C>G n.3224C>G c.3996C>G c.5201C>G (p.Pro1734Arg) n.939C>G c.5144C>G (p.Pro1715Arg) c.5210C>G (p.Pro1737Arg) c.5135C>G (p.Pro1712Arg) n.2990C>G c.5267C>G (p.Pro1756Arg) c.5213C>G (p.Pro1738Arg) c.5228C>G (p.Pro1743Arg) c.5138C>G (p.Pro1713Arg) c.5263C>G n.3426C>G c.5336C>G (p.Pro1779Arg) n.4157C>G n.2594C>G n.2565C>G n.2455C>G c.4997C>G (p.Pro1666Arg) c.*4509C>G (n.*4509C>G) c.5033C>G (p.Pro1678Arg) n.3065C>G c.1524C>G n.2457C>G c.5396C>G (p.Pro1799Arg) c.5393C>G (p.Pro1798Arg) c.5285C>G (p.Pro1762Arg) c.5264C>G (p.Pro1755Arg) c.4610C>G (p.Pro1537Arg) c.5558C>G (p.Pro1853Arg) c.5306C>G (p.Pro1769Arg) c.4052C>G (p.Pro1351Arg) | |
16 | g.2088528C>T | CA10583347 | TSC2 | c.*3691C>T (n.*3691C>T) c.5189C>T (p.Pro1730Leu) c.5339C>T (p.Pro1780Leu) c.*5855C>T (n.*5855C>T) c.*8091C>T (n.*8091C>T) c.5342C>T (p.Pro1781Leu) c.5273C>T (p.Pro1758Leu) c.5141C>T (p.Pro1714Leu) c.5174C>T (p.Pro1725Leu) c.1565C>T n.3224C>T c.3996C>T c.5201C>T (p.Pro1734Leu) n.939C>T c.5144C>T (p.Pro1715Leu) c.5210C>T (p.Pro1737Leu) c.5135C>T (p.Pro1712Leu) n.2990C>T c.5267C>T (p.Pro1756Leu) c.5213C>T (p.Pro1738Leu) c.5228C>T (p.Pro1743Leu) c.5138C>T (p.Pro1713Leu) c.5263C>T n.3426C>T c.5336C>T (p.Pro1779Leu) n.4157C>T n.2594C>T n.2565C>T n.2455C>T c.4997C>T (p.Pro1666Leu) c.*4509C>T (n.*4509C>T) c.5033C>T (p.Pro1678Leu) n.3065C>T c.1524C>T n.2457C>T c.5396C>T (p.Pro1799Leu) c.5393C>T (p.Pro1798Leu) c.5285C>T (p.Pro1762Leu) c.5264C>T (p.Pro1755Leu) c.4610C>T (p.Pro1537Leu) c.5558C>T (p.Pro1853Leu) c.5306C>T (p.Pro1769Leu) c.4052C>T (p.Pro1351Leu) | ClinVar dbSNP gnomAD v4 |
16 | g.2088529A= | CA2202034024 | TSC2 | c.*3692A= (n.*3692A=) c.5190A= (p.Pro1730=) c.5340A= (p.Pro1780=) c.*5856A= (n.*5856A=) c.*8092A= (n.*8092A=) c.5343A= (p.Pro1781=) c.5274A= (p.Pro1758=) c.5142A= (p.Pro1714=) c.5175A= (p.Pro1725=) c.1566A= n.3225A= c.3997A= c.5202A= (p.Pro1734=) n.940A= c.5145A= (p.Pro1715=) c.5211A= (p.Pro1737=) c.5136A= (p.Pro1712=) n.2991A= c.5268A= (p.Pro1756=) c.5214A= (p.Pro1738=) c.5229A= (p.Pro1743=) c.5139A= (p.Pro1713=) c.5264A= n.3427A= c.5337A= (p.Pro1779=) n.4158A= n.2595A= n.2566A= n.2456A= c.4998A= (p.Pro1666=) c.*4510A= (n.*4510A=) c.5034A= (p.Pro1678=) n.3066A= c.1525A= n.2458A= c.5397A= (p.Pro1799=) c.5394A= (p.Pro1798=) c.5286A= (p.Pro1762=) c.5265A= (p.Pro1755=) c.4611A= (p.Pro1537=) c.5559A= (p.Pro1853=) c.5307A= (p.Pro1769=) c.4053A= (p.Pro1351=) | |
16 | g.2088529A>C | CA493043718 | TSC2 | c.*3692A>C (n.*3692A>C) c.5190A>C (p.Pro1730=) c.5340A>C (p.Pro1780=) c.*5856A>C (n.*5856A>C) c.*8092A>C (n.*8092A>C) c.5343A>C (p.Pro1781=) c.5274A>C (p.Pro1758=) c.5142A>C (p.Pro1714=) c.5175A>C (p.Pro1725=) c.1566A>C n.3225A>C c.3997A>C c.5202A>C (p.Pro1734=) n.940A>C c.5145A>C (p.Pro1715=) c.5211A>C (p.Pro1737=) c.5136A>C (p.Pro1712=) n.2991A>C c.5268A>C (p.Pro1756=) c.5214A>C (p.Pro1738=) c.5229A>C (p.Pro1743=) c.5139A>C (p.Pro1713=) c.5264A>C n.3427A>C c.5337A>C (p.Pro1779=) n.4158A>C n.2595A>C n.2566A>C n.2456A>C c.4998A>C (p.Pro1666=) c.*4510A>C (n.*4510A>C) c.5034A>C (p.Pro1678=) n.3066A>C c.1525A>C n.2458A>C c.5397A>C (p.Pro1799=) c.5394A>C (p.Pro1798=) c.5286A>C (p.Pro1762=) c.5265A>C (p.Pro1755=) c.4611A>C (p.Pro1537=) c.5559A>C (p.Pro1853=) c.5307A>C (p.Pro1769=) c.4053A>C (p.Pro1351=) | ClinVar |
16 | g.2088529A>G | CA055170 | TSC2 | c.*3692A>G (n.*3692A>G) c.5190A>G (p.Pro1730=) c.5340A>G (p.Pro1780=) c.*5856A>G (n.*5856A>G) c.*8092A>G (n.*8092A>G) c.5343A>G (p.Pro1781=) c.5274A>G (p.Pro1758=) c.5142A>G (p.Pro1714=) c.5175A>G (p.Pro1725=) c.1566A>G n.3225A>G c.3997A>G c.5202A>G (p.Pro1734=) n.940A>G c.5145A>G (p.Pro1715=) c.5211A>G (p.Pro1737=) c.5136A>G (p.Pro1712=) n.2991A>G c.5268A>G (p.Pro1756=) c.5214A>G (p.Pro1738=) c.5229A>G (p.Pro1743=) c.5139A>G (p.Pro1713=) c.5264A>G n.3427A>G c.5337A>G (p.Pro1779=) n.4158A>G n.2595A>G n.2566A>G n.2456A>G c.4998A>G (p.Pro1666=) c.*4510A>G (n.*4510A>G) c.5034A>G (p.Pro1678=) n.3066A>G c.1525A>G n.2458A>G c.5397A>G (p.Pro1799=) c.5394A>G (p.Pro1798=) c.5286A>G (p.Pro1762=) c.5265A>G (p.Pro1755=) c.4611A>G (p.Pro1537=) c.5559A>G (p.Pro1853=) c.5307A>G (p.Pro1769=) c.4053A>G (p.Pro1351=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2088529A>T | CA493043719 | TSC2 | c.*3692A>T (n.*3692A>T) c.5190A>T (p.Pro1730=) c.5340A>T (p.Pro1780=) c.*5856A>T (n.*5856A>T) c.*8092A>T (n.*8092A>T) c.5343A>T (p.Pro1781=) c.5274A>T (p.Pro1758=) c.5142A>T (p.Pro1714=) c.5175A>T (p.Pro1725=) c.1566A>T n.3225A>T c.3997A>T c.5202A>T (p.Pro1734=) n.940A>T c.5145A>T (p.Pro1715=) c.5211A>T (p.Pro1737=) c.5136A>T (p.Pro1712=) n.2991A>T c.5268A>T (p.Pro1756=) c.5214A>T (p.Pro1738=) c.5229A>T (p.Pro1743=) c.5139A>T (p.Pro1713=) c.5264A>T n.3427A>T c.5337A>T (p.Pro1779=) n.4158A>T n.2595A>T n.2566A>T n.2456A>T c.4998A>T (p.Pro1666=) c.*4510A>T (n.*4510A>T) c.5034A>T (p.Pro1678=) n.3066A>T c.1525A>T n.2458A>T c.5397A>T (p.Pro1799=) c.5394A>T (p.Pro1798=) c.5286A>T (p.Pro1762=) c.5265A>T (p.Pro1755=) c.4611A>T (p.Pro1537=) c.5559A>T (p.Pro1853=) c.5307A>T (p.Pro1769=) c.4053A>T (p.Pro1351=) | dbSNP |
16 | g.2088530del | CA620705135 | TSC2 | c.*3693del (n.*3693del) c.5191del (p.Ala1731ProfsTer?) c.5341del (p.Ala1781ProfsTer?) c.*5857del (n.*5857del) c.*8093del (n.*8093del) c.5344del (p.Ala1782ProfsTer?) c.5275del (p.Ala1759ProfsTer?) c.5143del (p.Ala1715ProfsTer?) c.5176del (p.Ala1726ProfsTer?) c.1567del n.3226del c.3998del c.5203del (p.Ala1735ProfsTer?) n.941del c.5146del (p.Ala1716ProfsTer?) c.5212del (p.Ala1738ProfsTer?) c.5137del (p.Ala1713ProfsTer?) n.2992del c.5269del (p.Ala1757ProfsTer?) c.5215del (p.Ala1739ProfsTer?) c.5230del (p.Ala1744ProfsTer?) c.5140del (p.Ala1714ProfsTer?) c.5265del n.3428del c.5338del (p.Ala1780ProfsTer?) n.4159del n.2596del n.2567del n.2457del c.4999del (p.Ala1667ProfsTer?) c.*4511del (n.*4511del) c.5035del (p.Ala1679ProfsTer?) n.3067del c.1526del n.2459del c.5398del (p.Ala1800ProfsTer?) c.5395del (p.Ala1799ProfsTer?) c.5287del (p.Ala1763ProfsTer?) c.5266del (p.Ala1756ProfsTer?) c.4612del (p.Ala1538ProfsTer?) c.5560del (p.Ala1854ProfsTer?) c.5308del (p.Ala1770ProfsTer?) c.4054del (p.Ala1352ProfsTer?) | gnomAD v2 gnomAD v4 |
16 | g.2088530G>A | CA394315690 | TSC2 | c.*3693G>A (n.*3693G>A) c.5191G>A (p.Ala1731Thr) c.5341G>A (p.Ala1781Thr) c.*5857G>A (n.*5857G>A) c.*8093G>A (n.*8093G>A) c.5344G>A (p.Ala1782Thr) c.5275G>A (p.Ala1759Thr) c.5143G>A (p.Ala1715Thr) c.5176G>A (p.Ala1726Thr) c.1567G>A n.3226G>A c.3998G>A c.5203G>A (p.Ala1735Thr) n.941G>A c.5146G>A (p.Ala1716Thr) c.5212G>A (p.Ala1738Thr) c.5137G>A (p.Ala1713Thr) n.2992G>A c.5269G>A (p.Ala1757Thr) c.5215G>A (p.Ala1739Thr) c.5230G>A (p.Ala1744Thr) c.5140G>A (p.Ala1714Thr) c.5265G>A n.3428G>A c.5338G>A (p.Ala1780Thr) n.4159G>A n.2596G>A n.2567G>A n.2457G>A c.4999G>A (p.Ala1667Thr) c.*4511G>A (n.*4511G>A) c.5035G>A (p.Ala1679Thr) n.3067G>A c.1526G>A n.2459G>A c.5398G>A (p.Ala1800Thr) c.5395G>A (p.Ala1799Thr) c.5287G>A (p.Ala1763Thr) c.5266G>A (p.Ala1756Thr) c.4612G>A (p.Ala1538Thr) c.5560G>A (p.Ala1854Thr) c.5308G>A (p.Ala1770Thr) c.4054G>A (p.Ala1352Thr) | ClinVar dbSNP |
16 | g.2088530G>C | CA394315694 | TSC2 | c.*3693G>C (n.*3693G>C) c.5191G>C (p.Ala1731Pro) c.5341G>C (p.Ala1781Pro) c.*5857G>C (n.*5857G>C) c.*8093G>C (n.*8093G>C) c.5344G>C (p.Ala1782Pro) c.5275G>C (p.Ala1759Pro) c.5143G>C (p.Ala1715Pro) c.5176G>C (p.Ala1726Pro) c.1567G>C n.3226G>C c.3998G>C c.5203G>C (p.Ala1735Pro) n.941G>C c.5146G>C (p.Ala1716Pro) c.5212G>C (p.Ala1738Pro) c.5137G>C (p.Ala1713Pro) n.2992G>C c.5269G>C (p.Ala1757Pro) c.5215G>C (p.Ala1739Pro) c.5230G>C (p.Ala1744Pro) c.5140G>C (p.Ala1714Pro) c.5265G>C n.3428G>C c.5338G>C (p.Ala1780Pro) n.4159G>C n.2596G>C n.2567G>C n.2457G>C c.4999G>C (p.Ala1667Pro) c.*4511G>C (n.*4511G>C) c.5035G>C (p.Ala1679Pro) n.3067G>C c.1526G>C n.2459G>C c.5398G>C (p.Ala1800Pro) c.5395G>C (p.Ala1799Pro) c.5287G>C (p.Ala1763Pro) c.5266G>C (p.Ala1756Pro) c.4612G>C (p.Ala1538Pro) c.5560G>C (p.Ala1854Pro) c.5308G>C (p.Ala1770Pro) c.4054G>C (p.Ala1352Pro) | dbSNP gnomAD v4 |
16 | g.2088530G= | CA2202034030 | TSC2 | c.*3693G= (n.*3693G=) c.5191G= (p.Ala1731=) c.5341G= (p.Ala1781=) c.*5857G= (n.*5857G=) c.*8093G= (n.*8093G=) c.5344G= (p.Ala1782=) c.5275G= (p.Ala1759=) c.5143G= (p.Ala1715=) c.5176G= (p.Ala1726=) c.1567G= n.3226G= c.3998G= c.5203G= (p.Ala1735=) n.941G= c.5146G= (p.Ala1716=) c.5212G= (p.Ala1738=) c.5137G= (p.Ala1713=) n.2992G= c.5269G= (p.Ala1757=) c.5215G= (p.Ala1739=) c.5230G= (p.Ala1744=) c.5140G= (p.Ala1714=) c.5265G= n.3428G= c.5338G= (p.Ala1780=) n.4159G= n.2596G= n.2567G= n.2457G= c.4999G= (p.Ala1667=) c.*4511G= (n.*4511G=) c.5035G= (p.Ala1679=) n.3067G= c.1526G= n.2459G= c.5398G= (p.Ala1800=) c.5395G= (p.Ala1799=) c.5287G= (p.Ala1763=) c.5266G= (p.Ala1756=) c.4612G= (p.Ala1538=) c.5560G= (p.Ala1854=) c.5308G= (p.Ala1770=) c.4054G= (p.Ala1352=) | |
16 | g.2088530G>T | CA394315696 | TSC2 | c.*3693G>T (n.*3693G>T) c.5191G>T (p.Ala1731Ser) c.5341G>T (p.Ala1781Ser) c.*5857G>T (n.*5857G>T) c.*8093G>T (n.*8093G>T) c.5344G>T (p.Ala1782Ser) c.5275G>T (p.Ala1759Ser) c.5143G>T (p.Ala1715Ser) c.5176G>T (p.Ala1726Ser) c.1567G>T n.3226G>T c.3998G>T c.5203G>T (p.Ala1735Ser) n.941G>T c.5146G>T (p.Ala1716Ser) c.5212G>T (p.Ala1738Ser) c.5137G>T (p.Ala1713Ser) n.2992G>T c.5269G>T (p.Ala1757Ser) c.5215G>T (p.Ala1739Ser) c.5230G>T (p.Ala1744Ser) c.5140G>T (p.Ala1714Ser) c.5265G>T n.3428G>T c.5338G>T (p.Ala1780Ser) n.4159G>T n.2596G>T n.2567G>T n.2457G>T c.4999G>T (p.Ala1667Ser) c.*4511G>T (n.*4511G>T) c.5035G>T (p.Ala1679Ser) n.3067G>T c.1526G>T n.2459G>T c.5398G>T (p.Ala1800Ser) c.5395G>T (p.Ala1799Ser) c.5287G>T (p.Ala1763Ser) c.5266G>T (p.Ala1756Ser) c.4612G>T (p.Ala1538Ser) c.5560G>T (p.Ala1854Ser) c.5308G>T (p.Ala1770Ser) c.4054G>T (p.Ala1352Ser) | ClinVar dbSNP gnomAD v4 |
16 | g.2088531C>A | CA394315699 | TSC2 | c.*3694C>A (n.*3694C>A) c.5192C>A (p.Ala1731Asp) c.5342C>A (p.Ala1781Asp) c.*5858C>A (n.*5858C>A) c.*8094C>A (n.*8094C>A) c.5345C>A (p.Ala1782Asp) c.5276C>A (p.Ala1759Asp) c.5144C>A (p.Ala1715Asp) c.5177C>A (p.Ala1726Asp) c.1568C>A n.3227C>A c.3999C>A c.5204C>A (p.Ala1735Asp) n.942C>A c.5147C>A (p.Ala1716Asp) c.5213C>A (p.Ala1738Asp) c.5138C>A (p.Ala1713Asp) n.2993C>A c.5270C>A (p.Ala1757Asp) c.5216C>A (p.Ala1739Asp) c.5231C>A (p.Ala1744Asp) c.5141C>A (p.Ala1714Asp) c.5266C>A n.3429C>A c.5339C>A (p.Ala1780Asp) n.4160C>A n.2597C>A n.2568C>A n.2458C>A c.5000C>A (p.Ala1667Asp) c.*4512C>A (n.*4512C>A) c.5036C>A (p.Ala1679Asp) n.3068C>A c.1527C>A n.2460C>A c.5399C>A (p.Ala1800Asp) c.5396C>A (p.Ala1799Asp) c.5288C>A (p.Ala1763Asp) c.5267C>A (p.Ala1756Asp) c.4613C>A (p.Ala1538Asp) c.5561C>A (p.Ala1854Asp) c.5309C>A (p.Ala1770Asp) c.4055C>A (p.Ala1352Asp) | |
16 | g.2088531C= | CA2202034043 | TSC2 | c.*3694C= (n.*3694C=) c.5192C= (p.Ala1731=) c.5342C= (p.Ala1781=) c.*5858C= (n.*5858C=) c.*8094C= (n.*8094C=) c.5345C= (p.Ala1782=) c.5276C= (p.Ala1759=) c.5144C= (p.Ala1715=) c.5177C= (p.Ala1726=) c.1568C= n.3227C= c.3999C= c.5204C= (p.Ala1735=) n.942C= c.5147C= (p.Ala1716=) c.5213C= (p.Ala1738=) c.5138C= (p.Ala1713=) n.2993C= c.5270C= (p.Ala1757=) c.5216C= (p.Ala1739=) c.5231C= (p.Ala1744=) c.5141C= (p.Ala1714=) c.5266C= n.3429C= c.5339C= (p.Ala1780=) n.4160C= n.2597C= n.2568C= n.2458C= c.5000C= (p.Ala1667=) c.*4512C= (n.*4512C=) c.5036C= (p.Ala1679=) n.3068C= c.1527C= n.2460C= c.5399C= (p.Ala1800=) c.5396C= (p.Ala1799=) c.5288C= (p.Ala1763=) c.5267C= (p.Ala1756=) c.4613C= (p.Ala1538=) c.5561C= (p.Ala1854=) c.5309C= (p.Ala1770=) c.4055C= (p.Ala1352=) | |
16 | g.2088531C>G | CA394315705 | TSC2 | c.*3694C>G (n.*3694C>G) c.5192C>G (p.Ala1731Gly) c.5342C>G (p.Ala1781Gly) c.*5858C>G (n.*5858C>G) c.*8094C>G (n.*8094C>G) c.5345C>G (p.Ala1782Gly) c.5276C>G (p.Ala1759Gly) c.5144C>G (p.Ala1715Gly) c.5177C>G (p.Ala1726Gly) c.1568C>G n.3227C>G c.3999C>G c.5204C>G (p.Ala1735Gly) n.942C>G c.5147C>G (p.Ala1716Gly) c.5213C>G (p.Ala1738Gly) c.5138C>G (p.Ala1713Gly) n.2993C>G c.5270C>G (p.Ala1757Gly) c.5216C>G (p.Ala1739Gly) c.5231C>G (p.Ala1744Gly) c.5141C>G (p.Ala1714Gly) c.5266C>G n.3429C>G c.5339C>G (p.Ala1780Gly) n.4160C>G n.2597C>G n.2568C>G n.2458C>G c.5000C>G (p.Ala1667Gly) c.*4512C>G (n.*4512C>G) c.5036C>G (p.Ala1679Gly) n.3068C>G c.1527C>G n.2460C>G c.5399C>G (p.Ala1800Gly) c.5396C>G (p.Ala1799Gly) c.5288C>G (p.Ala1763Gly) c.5267C>G (p.Ala1756Gly) c.4613C>G (p.Ala1538Gly) c.5561C>G (p.Ala1854Gly) c.5309C>G (p.Ala1770Gly) c.4055C>G (p.Ala1352Gly) | ClinVar dbSNP |
16 | g.2088531C>T | CA394315700 | TSC2 | c.*3694C>T (n.*3694C>T) c.5192C>T (p.Ala1731Val) c.5342C>T (p.Ala1781Val) c.*5858C>T (n.*5858C>T) c.*8094C>T (n.*8094C>T) c.5345C>T (p.Ala1782Val) c.5276C>T (p.Ala1759Val) c.5144C>T (p.Ala1715Val) c.5177C>T (p.Ala1726Val) c.1568C>T n.3227C>T c.3999C>T c.5204C>T (p.Ala1735Val) n.942C>T c.5147C>T (p.Ala1716Val) c.5213C>T (p.Ala1738Val) c.5138C>T (p.Ala1713Val) n.2993C>T c.5270C>T (p.Ala1757Val) c.5216C>T (p.Ala1739Val) c.5231C>T (p.Ala1744Val) c.5141C>T (p.Ala1714Val) c.5266C>T n.3429C>T c.5339C>T (p.Ala1780Val) n.4160C>T n.2597C>T n.2568C>T n.2458C>T c.5000C>T (p.Ala1667Val) c.*4512C>T (n.*4512C>T) c.5036C>T (p.Ala1679Val) n.3068C>T c.1527C>T n.2460C>T c.5399C>T (p.Ala1800Val) c.5396C>T (p.Ala1799Val) c.5288C>T (p.Ala1763Val) c.5267C>T (p.Ala1756Val) c.4613C>T (p.Ala1538Val) c.5561C>T (p.Ala1854Val) c.5309C>T (p.Ala1770Val) c.4055C>T (p.Ala1352Val) | ClinVar dbSNP COSMIC COSMIC |
16 | g.2088532C>A | CA493043720 | TSC2 | c.*3695C>A (n.*3695C>A) c.5193C>A (p.Ala1731=) c.5343C>A (p.Ala1781=) c.*5859C>A (n.*5859C>A) c.*8095C>A (n.*8095C>A) c.5346C>A (p.Ala1782=) c.5277C>A (p.Ala1759=) c.5145C>A (p.Ala1715=) c.5178C>A (p.Ala1726=) c.1569C>A n.3228C>A c.4000C>A c.5205C>A (p.Ala1735=) n.943C>A c.5148C>A (p.Ala1716=) c.5214C>A (p.Ala1738=) c.5139C>A (p.Ala1713=) n.2994C>A c.5271C>A (p.Ala1757=) c.5217C>A (p.Ala1739=) c.5232C>A (p.Ala1744=) c.5142C>A (p.Ala1714=) c.5267C>A n.3430C>A c.5340C>A (p.Ala1780=) n.4161C>A n.2598C>A n.2569C>A n.2459C>A c.5001C>A (p.Ala1667=) c.*4513C>A (n.*4513C>A) c.5037C>A (p.Ala1679=) n.3069C>A c.1528C>A n.2461C>A c.5400C>A (p.Ala1800=) c.5397C>A (p.Ala1799=) c.5289C>A (p.Ala1763=) c.5268C>A (p.Ala1756=) c.4614C>A (p.Ala1538=) c.5562C>A (p.Ala1854=) c.5310C>A (p.Ala1770=) c.4056C>A (p.Ala1352=) | ClinVar dbSNP gnomAD v4 |
16 | g.2088532C= | CA2202034051 | TSC2 | c.*3695C= (n.*3695C=) c.5193C= (p.Ala1731=) c.5343C= (p.Ala1781=) c.*5859C= (n.*5859C=) c.*8095C= (n.*8095C=) c.5346C= (p.Ala1782=) c.5277C= (p.Ala1759=) c.5145C= (p.Ala1715=) c.5178C= (p.Ala1726=) c.1569C= n.3228C= c.4000C= c.5205C= (p.Ala1735=) n.943C= c.5148C= (p.Ala1716=) c.5214C= (p.Ala1738=) c.5139C= (p.Ala1713=) n.2994C= c.5271C= (p.Ala1757=) c.5217C= (p.Ala1739=) c.5232C= (p.Ala1744=) c.5142C= (p.Ala1714=) c.5267C= n.3430C= c.5340C= (p.Ala1780=) n.4161C= n.2598C= n.2569C= n.2459C= c.5001C= (p.Ala1667=) c.*4513C= (n.*4513C=) c.5037C= (p.Ala1679=) n.3069C= c.1528C= n.2461C= c.5400C= (p.Ala1800=) c.5397C= (p.Ala1799=) c.5289C= (p.Ala1763=) c.5268C= (p.Ala1756=) c.4614C= (p.Ala1538=) c.5562C= (p.Ala1854=) c.5310C= (p.Ala1770=) c.4056C= (p.Ala1352=) | |
16 | g.2088532C>G | CA493043721 | TSC2 | c.*3695C>G (n.*3695C>G) c.5193C>G (p.Ala1731=) c.5343C>G (p.Ala1781=) c.*5859C>G (n.*5859C>G) c.*8095C>G (n.*8095C>G) c.5346C>G (p.Ala1782=) c.5277C>G (p.Ala1759=) c.5145C>G (p.Ala1715=) c.5178C>G (p.Ala1726=) c.1569C>G n.3228C>G c.4000C>G c.5205C>G (p.Ala1735=) n.943C>G c.5148C>G (p.Ala1716=) c.5214C>G (p.Ala1738=) c.5139C>G (p.Ala1713=) n.2994C>G c.5271C>G (p.Ala1757=) c.5217C>G (p.Ala1739=) c.5232C>G (p.Ala1744=) c.5142C>G (p.Ala1714=) c.5267C>G n.3430C>G c.5340C>G (p.Ala1780=) n.4161C>G n.2598C>G n.2569C>G n.2459C>G c.5001C>G (p.Ala1667=) c.*4513C>G (n.*4513C>G) c.5037C>G (p.Ala1679=) n.3069C>G c.1528C>G n.2461C>G c.5400C>G (p.Ala1800=) c.5397C>G (p.Ala1799=) c.5289C>G (p.Ala1763=) c.5268C>G (p.Ala1756=) c.4614C>G (p.Ala1538=) c.5562C>G (p.Ala1854=) c.5310C>G (p.Ala1770=) c.4056C>G (p.Ala1352=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088532C>T | CA055178 | TSC2 | c.*3695C>T (n.*3695C>T) c.5193C>T (p.Ala1731=) c.5343C>T (p.Ala1781=) c.*5859C>T (n.*5859C>T) c.*8095C>T (n.*8095C>T) c.5346C>T (p.Ala1782=) c.5277C>T (p.Ala1759=) c.5145C>T (p.Ala1715=) c.5178C>T (p.Ala1726=) c.1569C>T n.3228C>T c.4000C>T c.5205C>T (p.Ala1735=) n.943C>T c.5148C>T (p.Ala1716=) c.5214C>T (p.Ala1738=) c.5139C>T (p.Ala1713=) n.2994C>T c.5271C>T (p.Ala1757=) c.5217C>T (p.Ala1739=) c.5232C>T (p.Ala1744=) c.5142C>T (p.Ala1714=) c.5267C>T n.3430C>T c.5340C>T (p.Ala1780=) n.4161C>T n.2598C>T n.2569C>T n.2459C>T c.5001C>T (p.Ala1667=) c.*4513C>T (n.*4513C>T) c.5037C>T (p.Ala1679=) n.3069C>T c.1528C>T n.2461C>T c.5400C>T (p.Ala1800=) c.5397C>T (p.Ala1799=) c.5289C>T (p.Ala1763=) c.5268C>T (p.Ala1756=) c.4614C>T (p.Ala1538=) c.5562C>T (p.Ala1854=) c.5310C>T (p.Ala1770=) c.4056C>T (p.Ala1352=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
16 | g.2088533G>A | CA055186 | TSC2 | c.*3696G>A (n.*3696G>A) c.5194G>A (p.Glu1732Lys) c.5344G>A (p.Glu1782Lys) c.*5860G>A (n.*5860G>A) c.*8096G>A (n.*8096G>A) c.5347G>A (p.Glu1783Lys) c.5278G>A (p.Glu1760Lys) c.5146G>A (p.Glu1716Lys) c.5179G>A (p.Glu1727Lys) c.1570G>A n.3229G>A c.4001G>A c.5206G>A (p.Glu1736Lys) n.944G>A c.5149G>A (p.Glu1717Lys) c.5215G>A (p.Glu1739Lys) c.5140G>A (p.Glu1714Lys) n.2995G>A c.5272G>A (p.Glu1758Lys) c.5218G>A (p.Glu1740Lys) c.5233G>A (p.Glu1745Lys) c.5143G>A (p.Glu1715Lys) c.5268G>A n.3431G>A c.5341G>A (p.Glu1781Lys) n.4162G>A n.2599G>A n.2570G>A n.2460G>A c.5002G>A (p.Glu1668Lys) c.*4514G>A (n.*4514G>A) c.5038G>A (p.Glu1680Lys) n.3070G>A c.1529G>A n.2462G>A c.5401G>A (p.Glu1801Lys) c.5398G>A (p.Glu1800Lys) c.5290G>A (p.Glu1764Lys) c.5269G>A (p.Glu1757Lys) c.4615G>A (p.Glu1539Lys) c.5563G>A (p.Glu1855Lys) c.5311G>A (p.Glu1771Lys) c.4057G>A (p.Glu1353Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088533G>C | CA394315713 | TSC2 | c.*3696G>C (n.*3696G>C) c.5194G>C (p.Glu1732Gln) c.5344G>C (p.Glu1782Gln) c.*5860G>C (n.*5860G>C) c.*8096G>C (n.*8096G>C) c.5347G>C (p.Glu1783Gln) c.5278G>C (p.Glu1760Gln) c.5146G>C (p.Glu1716Gln) c.5179G>C (p.Glu1727Gln) c.1570G>C n.3229G>C c.4001G>C c.5206G>C (p.Glu1736Gln) n.944G>C c.5149G>C (p.Glu1717Gln) c.5215G>C (p.Glu1739Gln) c.5140G>C (p.Glu1714Gln) n.2995G>C c.5272G>C (p.Glu1758Gln) c.5218G>C (p.Glu1740Gln) c.5233G>C (p.Glu1745Gln) c.5143G>C (p.Glu1715Gln) c.5268G>C n.3431G>C c.5341G>C (p.Glu1781Gln) n.4162G>C n.2599G>C n.2570G>C n.2460G>C c.5002G>C (p.Glu1668Gln) c.*4514G>C (n.*4514G>C) c.5038G>C (p.Glu1680Gln) n.3070G>C c.1529G>C n.2462G>C c.5401G>C (p.Glu1801Gln) c.5398G>C (p.Glu1800Gln) c.5290G>C (p.Glu1764Gln) c.5269G>C (p.Glu1757Gln) c.4615G>C (p.Glu1539Gln) c.5563G>C (p.Glu1855Gln) c.5311G>C (p.Glu1771Gln) c.4057G>C (p.Glu1353Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088533G= | CA2202034064 | TSC2 | c.*3696G= (n.*3696G=) c.5194G= (p.Glu1732=) c.5344G= (p.Glu1782=) c.*5860G= (n.*5860G=) c.*8096G= (n.*8096G=) c.5347G= (p.Glu1783=) c.5278G= (p.Glu1760=) c.5146G= (p.Glu1716=) c.5179G= (p.Glu1727=) c.1570G= n.3229G= c.4001G= c.5206G= (p.Glu1736=) n.944G= c.5149G= (p.Glu1717=) c.5215G= (p.Glu1739=) c.5140G= (p.Glu1714=) n.2995G= c.5272G= (p.Glu1758=) c.5218G= (p.Glu1740=) c.5233G= (p.Glu1745=) c.5143G= (p.Glu1715=) c.5268G= n.3431G= c.5341G= (p.Glu1781=) n.4162G= n.2599G= n.2570G= n.2460G= c.5002G= (p.Glu1668=) c.*4514G= (n.*4514G=) c.5038G= (p.Glu1680=) n.3070G= c.1529G= n.2462G= c.5401G= (p.Glu1801=) c.5398G= (p.Glu1800=) c.5290G= (p.Glu1764=) c.5269G= (p.Glu1757=) c.4615G= (p.Glu1539=) c.5563G= (p.Glu1855=) c.5311G= (p.Glu1771=) c.4057G= (p.Glu1353=) | |
16 | g.2088533G>T | CA394315717 | TSC2 | c.*3696G>T (n.*3696G>T) c.5194G>T (p.Glu1732Ter) c.5344G>T (p.Glu1782Ter) c.*5860G>T (n.*5860G>T) c.*8096G>T (n.*8096G>T) c.5347G>T (p.Glu1783Ter) c.5278G>T (p.Glu1760Ter) c.5146G>T (p.Glu1716Ter) c.5179G>T (p.Glu1727Ter) c.1570G>T n.3229G>T c.4001G>T c.5206G>T (p.Glu1736Ter) n.944G>T c.5149G>T (p.Glu1717Ter) c.5215G>T (p.Glu1739Ter) c.5140G>T (p.Glu1714Ter) n.2995G>T c.5272G>T (p.Glu1758Ter) c.5218G>T (p.Glu1740Ter) c.5233G>T (p.Glu1745Ter) c.5143G>T (p.Glu1715Ter) c.5268G>T n.3431G>T c.5341G>T (p.Glu1781Ter) n.4162G>T n.2599G>T n.2570G>T n.2460G>T c.5002G>T (p.Glu1668Ter) c.*4514G>T (n.*4514G>T) c.5038G>T (p.Glu1680Ter) n.3070G>T c.1529G>T n.2462G>T c.5401G>T (p.Glu1801Ter) c.5398G>T (p.Glu1800Ter) c.5290G>T (p.Glu1764Ter) c.5269G>T (p.Glu1757Ter) c.4615G>T (p.Glu1539Ter) c.5563G>T (p.Glu1855Ter) c.5311G>T (p.Glu1771Ter) c.4057G>T (p.Glu1353Ter) | ClinVar dbSNP gnomAD v4 |
16 | g.2088534A= | CA2202034073 | TSC2 | c.*3697A= (n.*3697A=) c.5195A= (p.Glu1732=) c.5345A= (p.Glu1782=) c.*5861A= (n.*5861A=) c.*8097A= (n.*8097A=) c.5348A= (p.Glu1783=) c.5279A= (p.Glu1760=) c.5147A= (p.Glu1716=) c.5180A= (p.Glu1727=) c.1571A= n.3230A= c.4002A= c.5207A= (p.Glu1736=) n.945A= c.5150A= (p.Glu1717=) c.5216A= (p.Glu1739=) c.5141A= (p.Glu1714=) n.2996A= c.5273A= (p.Glu1758=) c.5219A= (p.Glu1740=) c.5234A= (p.Glu1745=) c.5144A= (p.Glu1715=) c.5269A= n.3432A= c.5342A= (p.Glu1781=) n.4163A= n.2600A= n.2571A= n.2461A= c.5003A= (p.Glu1668=) c.*4515A= (n.*4515A=) c.5039A= (p.Glu1680=) n.3071A= c.1530A= n.2463A= c.5402A= (p.Glu1801=) c.5399A= (p.Glu1800=) c.5291A= (p.Glu1764=) c.5270A= (p.Glu1757=) c.4616A= (p.Glu1539=) c.5564A= (p.Glu1855=) c.5312A= (p.Glu1771=) c.4058A= (p.Glu1353=) | |
16 | g.2088534A>C | CA394315721 | TSC2 | c.*3697A>C (n.*3697A>C) c.5195A>C (p.Glu1732Ala) c.5345A>C (p.Glu1782Ala) c.*5861A>C (n.*5861A>C) c.*8097A>C (n.*8097A>C) c.5348A>C (p.Glu1783Ala) c.5279A>C (p.Glu1760Ala) c.5147A>C (p.Glu1716Ala) c.5180A>C (p.Glu1727Ala) c.1571A>C n.3230A>C c.4002A>C c.5207A>C (p.Glu1736Ala) n.945A>C c.5150A>C (p.Glu1717Ala) c.5216A>C (p.Glu1739Ala) c.5141A>C (p.Glu1714Ala) n.2996A>C c.5273A>C (p.Glu1758Ala) c.5219A>C (p.Glu1740Ala) c.5234A>C (p.Glu1745Ala) c.5144A>C (p.Glu1715Ala) c.5269A>C n.3432A>C c.5342A>C (p.Glu1781Ala) n.4163A>C n.2600A>C n.2571A>C n.2461A>C c.5003A>C (p.Glu1668Ala) c.*4515A>C (n.*4515A>C) c.5039A>C (p.Glu1680Ala) n.3071A>C c.1530A>C n.2463A>C c.5402A>C (p.Glu1801Ala) c.5399A>C (p.Glu1800Ala) c.5291A>C (p.Glu1764Ala) c.5270A>C (p.Glu1757Ala) c.4616A>C (p.Glu1539Ala) c.5564A>C (p.Glu1855Ala) c.5312A>C (p.Glu1771Ala) c.4058A>C (p.Glu1353Ala) | ClinVar |
16 | g.2088534A>G | CA394315724 | TSC2 | c.*3697A>G (n.*3697A>G) c.5195A>G (p.Glu1732Gly) c.5345A>G (p.Glu1782Gly) c.*5861A>G (n.*5861A>G) c.*8097A>G (n.*8097A>G) c.5348A>G (p.Glu1783Gly) c.5279A>G (p.Glu1760Gly) c.5147A>G (p.Glu1716Gly) c.5180A>G (p.Glu1727Gly) c.1571A>G n.3230A>G c.4002A>G c.5207A>G (p.Glu1736Gly) n.945A>G c.5150A>G (p.Glu1717Gly) c.5216A>G (p.Glu1739Gly) c.5141A>G (p.Glu1714Gly) n.2996A>G c.5273A>G (p.Glu1758Gly) c.5219A>G (p.Glu1740Gly) c.5234A>G (p.Glu1745Gly) c.5144A>G (p.Glu1715Gly) c.5269A>G n.3432A>G c.5342A>G (p.Glu1781Gly) n.4163A>G n.2600A>G n.2571A>G n.2461A>G c.5003A>G (p.Glu1668Gly) c.*4515A>G (n.*4515A>G) c.5039A>G (p.Glu1680Gly) n.3071A>G c.1530A>G n.2463A>G c.5402A>G (p.Glu1801Gly) c.5399A>G (p.Glu1800Gly) c.5291A>G (p.Glu1764Gly) c.5270A>G (p.Glu1757Gly) c.4616A>G (p.Glu1539Gly) c.5564A>G (p.Glu1855Gly) c.5312A>G (p.Glu1771Gly) c.4058A>G (p.Glu1353Gly) | ClinVar dbSNP |
16 | g.2088534A>T | CA394315727 | TSC2 | c.*3697A>T (n.*3697A>T) c.5195A>T (p.Glu1732Val) c.5345A>T (p.Glu1782Val) c.*5861A>T (n.*5861A>T) c.*8097A>T (n.*8097A>T) c.5348A>T (p.Glu1783Val) c.5279A>T (p.Glu1760Val) c.5147A>T (p.Glu1716Val) c.5180A>T (p.Glu1727Val) c.1571A>T n.3230A>T c.4002A>T c.5207A>T (p.Glu1736Val) n.945A>T c.5150A>T (p.Glu1717Val) c.5216A>T (p.Glu1739Val) c.5141A>T (p.Glu1714Val) n.2996A>T c.5273A>T (p.Glu1758Val) c.5219A>T (p.Glu1740Val) c.5234A>T (p.Glu1745Val) c.5144A>T (p.Glu1715Val) c.5269A>T n.3432A>T c.5342A>T (p.Glu1781Val) n.4163A>T n.2600A>T n.2571A>T n.2461A>T c.5003A>T (p.Glu1668Val) c.*4515A>T (n.*4515A>T) c.5039A>T (p.Glu1680Val) n.3071A>T c.1530A>T n.2463A>T c.5402A>T (p.Glu1801Val) c.5399A>T (p.Glu1800Val) c.5291A>T (p.Glu1764Val) c.5270A>T (p.Glu1757Val) c.4616A>T (p.Glu1539Val) c.5564A>T (p.Glu1855Val) c.5312A>T (p.Glu1771Val) c.4058A>T (p.Glu1353Val) | |
16 | g.2088535G>A | CA493043722 | TSC2 | c.*3698G>A (n.*3698G>A) c.5196G>A (p.Glu1732=) c.5346G>A (p.Glu1782=) c.*5862G>A (n.*5862G>A) c.*8098G>A (n.*8098G>A) c.5349G>A (p.Glu1783=) c.5280G>A (p.Glu1760=) c.5148G>A (p.Glu1716=) c.5181G>A (p.Glu1727=) c.1572G>A n.3231G>A c.4003G>A c.5208G>A (p.Glu1736=) n.946G>A c.5151G>A (p.Glu1717=) c.5217G>A (p.Glu1739=) c.5142G>A (p.Glu1714=) n.2997G>A c.5274G>A (p.Glu1758=) c.5220G>A (p.Glu1740=) c.5235G>A (p.Glu1745=) c.5145G>A (p.Glu1715=) c.5270G>A n.3433G>A c.5343G>A (p.Glu1781=) n.4164G>A n.2601G>A n.2572G>A n.2462G>A c.5004G>A (p.Glu1668=) c.*4516G>A (n.*4516G>A) c.5040G>A (p.Glu1680=) n.3072G>A c.1531G>A n.2464G>A c.5403G>A (p.Glu1801=) c.5400G>A (p.Glu1800=) c.5292G>A (p.Glu1764=) c.5271G>A (p.Glu1757=) c.4617G>A (p.Glu1539=) c.5565G>A (p.Glu1855=) c.5313G>A (p.Glu1771=) c.4059G>A (p.Glu1353=) | ClinVar dbSNP |
16 | g.2088535G>C | CA394315730 | TSC2 | c.*3698G>C (n.*3698G>C) c.5196G>C (p.Glu1732Asp) c.5346G>C (p.Glu1782Asp) c.*5862G>C (n.*5862G>C) c.*8098G>C (n.*8098G>C) c.5349G>C (p.Glu1783Asp) c.5280G>C (p.Glu1760Asp) c.5148G>C (p.Glu1716Asp) c.5181G>C (p.Glu1727Asp) c.1572G>C n.3231G>C c.4003G>C c.5208G>C (p.Glu1736Asp) n.946G>C c.5151G>C (p.Glu1717Asp) c.5217G>C (p.Glu1739Asp) c.5142G>C (p.Glu1714Asp) n.2997G>C c.5274G>C (p.Glu1758Asp) c.5220G>C (p.Glu1740Asp) c.5235G>C (p.Glu1745Asp) c.5145G>C (p.Glu1715Asp) c.5270G>C n.3433G>C c.5343G>C (p.Glu1781Asp) n.4164G>C n.2601G>C n.2572G>C n.2462G>C c.5004G>C (p.Glu1668Asp) c.*4516G>C (n.*4516G>C) c.5040G>C (p.Glu1680Asp) n.3072G>C c.1531G>C n.2464G>C c.5403G>C (p.Glu1801Asp) c.5400G>C (p.Glu1800Asp) c.5292G>C (p.Glu1764Asp) c.5271G>C (p.Glu1757Asp) c.4617G>C (p.Glu1539Asp) c.5565G>C (p.Glu1855Asp) c.5313G>C (p.Glu1771Asp) c.4059G>C (p.Glu1353Asp) | |
16 | g.2088535G= | CA2202034081 | TSC2 | c.*3698G= (n.*3698G=) c.5196G= (p.Glu1732=) c.5346G= (p.Glu1782=) c.*5862G= (n.*5862G=) c.*8098G= (n.*8098G=) c.5349G= (p.Glu1783=) c.5280G= (p.Glu1760=) c.5148G= (p.Glu1716=) c.5181G= (p.Glu1727=) c.1572G= n.3231G= c.4003G= c.5208G= (p.Glu1736=) n.946G= c.5151G= (p.Glu1717=) c.5217G= (p.Glu1739=) c.5142G= (p.Glu1714=) n.2997G= c.5274G= (p.Glu1758=) c.5220G= (p.Glu1740=) c.5235G= (p.Glu1745=) c.5145G= (p.Glu1715=) c.5270G= n.3433G= c.5343G= (p.Glu1781=) n.4164G= n.2601G= n.2572G= n.2462G= c.5004G= (p.Glu1668=) c.*4516G= (n.*4516G=) c.5040G= (p.Glu1680=) n.3072G= c.1531G= n.2464G= c.5403G= (p.Glu1801=) c.5400G= (p.Glu1800=) c.5292G= (p.Glu1764=) c.5271G= (p.Glu1757=) c.4617G= (p.Glu1539=) c.5565G= (p.Glu1855=) c.5313G= (p.Glu1771=) c.4059G= (p.Glu1353=) | |
16 | g.2088535G>T | CA394315728 | TSC2 | c.*3698G>T (n.*3698G>T) c.5196G>T (p.Glu1732Asp) c.5346G>T (p.Glu1782Asp) c.*5862G>T (n.*5862G>T) c.*8098G>T (n.*8098G>T) c.5349G>T (p.Glu1783Asp) c.5280G>T (p.Glu1760Asp) c.5148G>T (p.Glu1716Asp) c.5181G>T (p.Glu1727Asp) c.1572G>T n.3231G>T c.4003G>T c.5208G>T (p.Glu1736Asp) n.946G>T c.5151G>T (p.Glu1717Asp) c.5217G>T (p.Glu1739Asp) c.5142G>T (p.Glu1714Asp) n.2997G>T c.5274G>T (p.Glu1758Asp) c.5220G>T (p.Glu1740Asp) c.5235G>T (p.Glu1745Asp) c.5145G>T (p.Glu1715Asp) c.5270G>T n.3433G>T c.5343G>T (p.Glu1781Asp) n.4164G>T n.2601G>T n.2572G>T n.2462G>T c.5004G>T (p.Glu1668Asp) c.*4516G>T (n.*4516G>T) c.5040G>T (p.Glu1680Asp) n.3072G>T c.1531G>T n.2464G>T c.5403G>T (p.Glu1801Asp) c.5400G>T (p.Glu1800Asp) c.5292G>T (p.Glu1764Asp) c.5271G>T (p.Glu1757Asp) c.4617G>T (p.Glu1539Asp) c.5565G>T (p.Glu1855Asp) c.5313G>T (p.Glu1771Asp) c.4059G>T (p.Glu1353Asp) | ClinVar |
16 | g.2088535_2088536insA | CA620705136 | TSC2 | c.*3698_*3699insA (n.*3698_*3699insA) c.5196_5197insA (p.Pro1733ThrfsTer6) c.5346_5347insA (p.Pro1783ThrfsTer6) c.*5862_*5863insA (n.*5862_*5863insA) c.*8098_*8099insA (n.*8098_*8099insA) c.5349_5350insA (p.Pro1784ThrfsTer6) c.5280_5281insA (p.Pro1761ThrfsTer6) c.5148_5149insA (p.Pro1717ThrfsTer6) c.5181_5182insA (p.Pro1728ThrfsTer6) c.1572_1573insA n.3231_3232insA c.4003_4004insA c.5208_5209insA (p.Pro1737ThrfsTer6) n.946_947insA c.5151_5152insA (p.Pro1718ThrfsTer6) c.5217_5218insA (p.Pro1740ThrfsTer6) c.5142_5143insA (p.Pro1715ThrfsTer6) n.2997_2998insA c.5274_5275insA (p.Pro1759ThrfsTer6) c.5220_5221insA (p.Pro1741ThrfsTer6) c.5235_5236insA (p.Pro1746ThrfsTer6) c.5145_5146insA (p.Pro1716ThrfsTer6) c.5270_5271insA n.3433_3434insA c.5343_5344insA (p.Pro1782ThrfsTer6) n.4164_4165insA n.2601_2602insA n.2572_2573insA n.2462_2463insA c.5004_5005insA (p.Pro1669ThrfsTer6) c.*4516_*4517insA (n.*4516_*4517insA) c.5040_5041insA (p.Pro1681ThrfsTer6) n.3072_3073insA c.1531_1532insA n.2464_2465insA c.5403_5404insA (p.Pro1802ThrfsTer6) c.5400_5401insA (p.Pro1801ThrfsTer6) c.5292_5293insA (p.Pro1765ThrfsTer6) c.5271_5272insA (p.Pro1758ThrfsTer6) c.4617_4618insA (p.Pro1540ThrfsTer6) c.5565_5566insA (p.Pro1856ThrfsTer6) c.5313_5314insA (p.Pro1772ThrfsTer6) c.4059_4060insA (p.Pro1354ThrfsTer6) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088536C>A | CA394315734 | TSC2 | c.*3699C>A (n.*3699C>A) c.5197C>A (p.Pro1733Thr) c.5347C>A (p.Pro1783Thr) c.*5863C>A (n.*5863C>A) c.*8099C>A (n.*8099C>A) c.5350C>A (p.Pro1784Thr) c.5281C>A (p.Pro1761Thr) c.5149C>A (p.Pro1717Thr) c.5182C>A (p.Pro1728Thr) c.1573C>A n.3232C>A c.4004C>A c.5209C>A (p.Pro1737Thr) n.947C>A c.5152C>A (p.Pro1718Thr) c.5218C>A (p.Pro1740Thr) c.5143C>A (p.Pro1715Thr) n.2998C>A c.5275C>A (p.Pro1759Thr) c.5221C>A (p.Pro1741Thr) c.5236C>A (p.Pro1746Thr) c.5146C>A (p.Pro1716Thr) c.5271C>A n.3434C>A c.5344C>A (p.Pro1782Thr) n.4165C>A n.2602C>A n.2573C>A n.2463C>A c.5005C>A (p.Pro1669Thr) c.*4517C>A (n.*4517C>A) c.5041C>A (p.Pro1681Thr) n.3073C>A c.1532C>A n.2465C>A c.5404C>A (p.Pro1802Thr) c.5401C>A (p.Pro1801Thr) c.5293C>A (p.Pro1765Thr) c.5272C>A (p.Pro1758Thr) c.4618C>A (p.Pro1540Thr) c.5566C>A (p.Pro1856Thr) c.5314C>A (p.Pro1772Thr) c.4060C>A (p.Pro1354Thr) | dbSNP |
16 | g.2088536C= | CA2202034089 | TSC2 | c.*3699C= (n.*3699C=) c.5197C= (p.Pro1733=) c.5347C= (p.Pro1783=) c.*5863C= (n.*5863C=) c.*8099C= (n.*8099C=) c.5350C= (p.Pro1784=) c.5281C= (p.Pro1761=) c.5149C= (p.Pro1717=) c.5182C= (p.Pro1728=) c.1573C= n.3232C= c.4004C= c.5209C= (p.Pro1737=) n.947C= c.5152C= (p.Pro1718=) c.5218C= (p.Pro1740=) c.5143C= (p.Pro1715=) n.2998C= c.5275C= (p.Pro1759=) c.5221C= (p.Pro1741=) c.5236C= (p.Pro1746=) c.5146C= (p.Pro1716=) c.5271C= n.3434C= c.5344C= (p.Pro1782=) n.4165C= n.2602C= n.2573C= n.2463C= c.5005C= (p.Pro1669=) c.*4517C= (n.*4517C=) c.5041C= (p.Pro1681=) n.3073C= c.1532C= n.2465C= c.5404C= (p.Pro1802=) c.5401C= (p.Pro1801=) c.5293C= (p.Pro1765=) c.5272C= (p.Pro1758=) c.4618C= (p.Pro1540=) c.5566C= (p.Pro1856=) c.5314C= (p.Pro1772=) c.4060C= (p.Pro1354=) | |
16 | g.2088536C>G | CA394315736 | TSC2 | c.*3699C>G (n.*3699C>G) c.5197C>G (p.Pro1733Ala) c.5347C>G (p.Pro1783Ala) c.*5863C>G (n.*5863C>G) c.*8099C>G (n.*8099C>G) c.5350C>G (p.Pro1784Ala) c.5281C>G (p.Pro1761Ala) c.5149C>G (p.Pro1717Ala) c.5182C>G (p.Pro1728Ala) c.1573C>G n.3232C>G c.4004C>G c.5209C>G (p.Pro1737Ala) n.947C>G c.5152C>G (p.Pro1718Ala) c.5218C>G (p.Pro1740Ala) c.5143C>G (p.Pro1715Ala) n.2998C>G c.5275C>G (p.Pro1759Ala) c.5221C>G (p.Pro1741Ala) c.5236C>G (p.Pro1746Ala) c.5146C>G (p.Pro1716Ala) c.5271C>G n.3434C>G c.5344C>G (p.Pro1782Ala) n.4165C>G n.2602C>G n.2573C>G n.2463C>G c.5005C>G (p.Pro1669Ala) c.*4517C>G (n.*4517C>G) c.5041C>G (p.Pro1681Ala) n.3073C>G c.1532C>G n.2465C>G c.5404C>G (p.Pro1802Ala) c.5401C>G (p.Pro1801Ala) c.5293C>G (p.Pro1765Ala) c.5272C>G (p.Pro1758Ala) c.4618C>G (p.Pro1540Ala) c.5566C>G (p.Pro1856Ala) c.5314C>G (p.Pro1772Ala) c.4060C>G (p.Pro1354Ala) | |
16 | g.2088536C>T | CA394315737 | TSC2 | c.*3699C>T (n.*3699C>T) c.5197C>T (p.Pro1733Ser) c.5347C>T (p.Pro1783Ser) c.*5863C>T (n.*5863C>T) c.*8099C>T (n.*8099C>T) c.5350C>T (p.Pro1784Ser) c.5281C>T (p.Pro1761Ser) c.5149C>T (p.Pro1717Ser) c.5182C>T (p.Pro1728Ser) c.1573C>T n.3232C>T c.4004C>T c.5209C>T (p.Pro1737Ser) n.947C>T c.5152C>T (p.Pro1718Ser) c.5218C>T (p.Pro1740Ser) c.5143C>T (p.Pro1715Ser) n.2998C>T c.5275C>T (p.Pro1759Ser) c.5221C>T (p.Pro1741Ser) c.5236C>T (p.Pro1746Ser) c.5146C>T (p.Pro1716Ser) c.5271C>T n.3434C>T c.5344C>T (p.Pro1782Ser) n.4165C>T n.2602C>T n.2573C>T n.2463C>T c.5005C>T (p.Pro1669Ser) c.*4517C>T (n.*4517C>T) c.5041C>T (p.Pro1681Ser) n.3073C>T c.1532C>T n.2465C>T c.5404C>T (p.Pro1802Ser) c.5401C>T (p.Pro1801Ser) c.5293C>T (p.Pro1765Ser) c.5272C>T (p.Pro1758Ser) c.4618C>T (p.Pro1540Ser) c.5566C>T (p.Pro1856Ser) c.5314C>T (p.Pro1772Ser) c.4060C>T (p.Pro1354Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088537C>A | CA394315740 | TSC2 | c.*3700C>A (n.*3700C>A) c.5198C>A (p.Pro1733His) c.5348C>A (p.Pro1783His) c.*5864C>A (n.*5864C>A) c.*8100C>A (n.*8100C>A) c.5351C>A (p.Pro1784His) c.5282C>A (p.Pro1761His) c.5150C>A (p.Pro1717His) c.5183C>A (p.Pro1728His) c.1574C>A n.3233C>A c.4005C>A c.5210C>A (p.Pro1737His) n.948C>A c.5153C>A (p.Pro1718His) c.5219C>A (p.Pro1740His) c.5144C>A (p.Pro1715His) n.2999C>A c.5276C>A (p.Pro1759His) c.5222C>A (p.Pro1741His) c.5237C>A (p.Pro1746His) c.5147C>A (p.Pro1716His) c.5272C>A n.3435C>A c.5345C>A (p.Pro1782His) n.4166C>A n.2603C>A n.2574C>A n.2464C>A c.5006C>A (p.Pro1669His) c.*4518C>A (n.*4518C>A) c.5042C>A (p.Pro1681His) n.3074C>A c.1533C>A n.2466C>A c.5405C>A (p.Pro1802His) c.5402C>A (p.Pro1801His) c.5294C>A (p.Pro1765His) c.5273C>A (p.Pro1758His) c.4619C>A (p.Pro1540His) c.5567C>A (p.Pro1856His) c.5315C>A (p.Pro1772His) c.4061C>A (p.Pro1354His) | |
16 | g.2088537C>G | CA394315742 | TSC2 | c.*3700C>G (n.*3700C>G) c.5198C>G (p.Pro1733Arg) c.5348C>G (p.Pro1783Arg) c.*5864C>G (n.*5864C>G) c.*8100C>G (n.*8100C>G) c.5351C>G (p.Pro1784Arg) c.5282C>G (p.Pro1761Arg) c.5150C>G (p.Pro1717Arg) c.5183C>G (p.Pro1728Arg) c.1574C>G n.3233C>G c.4005C>G c.5210C>G (p.Pro1737Arg) n.948C>G c.5153C>G (p.Pro1718Arg) c.5219C>G (p.Pro1740Arg) c.5144C>G (p.Pro1715Arg) n.2999C>G c.5276C>G (p.Pro1759Arg) c.5222C>G (p.Pro1741Arg) c.5237C>G (p.Pro1746Arg) c.5147C>G (p.Pro1716Arg) c.5272C>G n.3435C>G c.5345C>G (p.Pro1782Arg) n.4166C>G n.2603C>G n.2574C>G n.2464C>G c.5006C>G (p.Pro1669Arg) c.*4518C>G (n.*4518C>G) c.5042C>G (p.Pro1681Arg) n.3074C>G c.1533C>G n.2466C>G c.5405C>G (p.Pro1802Arg) c.5402C>G (p.Pro1801Arg) c.5294C>G (p.Pro1765Arg) c.5273C>G (p.Pro1758Arg) c.4619C>G (p.Pro1540Arg) c.5567C>G (p.Pro1856Arg) c.5315C>G (p.Pro1772Arg) c.4061C>G (p.Pro1354Arg) | |
16 | g.2088537C>T | CA394315743 | TSC2 | c.*3700C>T (n.*3700C>T) c.5198C>T (p.Pro1733Leu) c.5348C>T (p.Pro1783Leu) c.*5864C>T (n.*5864C>T) c.*8100C>T (n.*8100C>T) c.5351C>T (p.Pro1784Leu) c.5282C>T (p.Pro1761Leu) c.5150C>T (p.Pro1717Leu) c.5183C>T (p.Pro1728Leu) c.1574C>T n.3233C>T c.4005C>T c.5210C>T (p.Pro1737Leu) n.948C>T c.5153C>T (p.Pro1718Leu) c.5219C>T (p.Pro1740Leu) c.5144C>T (p.Pro1715Leu) n.2999C>T c.5276C>T (p.Pro1759Leu) c.5222C>T (p.Pro1741Leu) c.5237C>T (p.Pro1746Leu) c.5147C>T (p.Pro1716Leu) c.5272C>T n.3435C>T c.5345C>T (p.Pro1782Leu) n.4166C>T n.2603C>T n.2574C>T n.2464C>T c.5006C>T (p.Pro1669Leu) c.*4518C>T (n.*4518C>T) c.5042C>T (p.Pro1681Leu) n.3074C>T c.1533C>T n.2466C>T c.5405C>T (p.Pro1802Leu) c.5402C>T (p.Pro1801Leu) c.5294C>T (p.Pro1765Leu) c.5273C>T (p.Pro1758Leu) c.4619C>T (p.Pro1540Leu) c.5567C>T (p.Pro1856Leu) c.5315C>T (p.Pro1772Leu) c.4061C>T (p.Pro1354Leu) | |
16 | g.2088538C>A | CA493043723 | TSC2 | c.*3701C>A (n.*3701C>A) c.5199C>A (p.Pro1733=) c.5349C>A (p.Pro1783=) c.*5865C>A (n.*5865C>A) c.*8101C>A (n.*8101C>A) c.5352C>A (p.Pro1784=) c.5283C>A (p.Pro1761=) c.5151C>A (p.Pro1717=) c.5184C>A (p.Pro1728=) c.1575C>A n.3234C>A c.4006C>A c.5211C>A (p.Pro1737=) n.949C>A c.5154C>A (p.Pro1718=) c.5220C>A (p.Pro1740=) c.5145C>A (p.Pro1715=) n.3000C>A c.5277C>A (p.Pro1759=) c.5223C>A (p.Pro1741=) c.5238C>A (p.Pro1746=) c.5148C>A (p.Pro1716=) c.5273C>A n.3436C>A c.5346C>A (p.Pro1782=) n.4167C>A n.2604C>A n.2575C>A n.2465C>A c.5007C>A (p.Pro1669=) c.*4519C>A (n.*4519C>A) c.5043C>A (p.Pro1681=) n.3075C>A c.1534C>A n.2467C>A c.5406C>A (p.Pro1802=) c.5403C>A (p.Pro1801=) c.5295C>A (p.Pro1765=) c.5274C>A (p.Pro1758=) c.4620C>A (p.Pro1540=) c.5568C>A (p.Pro1856=) c.5316C>A (p.Pro1772=) c.4062C>A (p.Pro1354=) | ClinVar dbSNP gnomAD v4 |
16 | g.2088538C= | CA2202034101 | TSC2 | c.*3701C= (n.*3701C=) c.5199C= (p.Pro1733=) c.5349C= (p.Pro1783=) c.*5865C= (n.*5865C=) c.*8101C= (n.*8101C=) c.5352C= (p.Pro1784=) c.5283C= (p.Pro1761=) c.5151C= (p.Pro1717=) c.5184C= (p.Pro1728=) c.1575C= n.3234C= c.4006C= c.5211C= (p.Pro1737=) n.949C= c.5154C= (p.Pro1718=) c.5220C= (p.Pro1740=) c.5145C= (p.Pro1715=) n.3000C= c.5277C= (p.Pro1759=) c.5223C= (p.Pro1741=) c.5238C= (p.Pro1746=) c.5148C= (p.Pro1716=) c.5273C= n.3436C= c.5346C= (p.Pro1782=) n.4167C= n.2604C= n.2575C= n.2465C= c.5007C= (p.Pro1669=) c.*4519C= (n.*4519C=) c.5043C= (p.Pro1681=) n.3075C= c.1534C= n.2467C= c.5406C= (p.Pro1802=) c.5403C= (p.Pro1801=) c.5295C= (p.Pro1765=) c.5274C= (p.Pro1758=) c.4620C= (p.Pro1540=) c.5568C= (p.Pro1856=) c.5316C= (p.Pro1772=) c.4062C= (p.Pro1354=) | |
16 | g.2088538C>G | CA493043724 | TSC2 | c.*3701C>G (n.*3701C>G) c.5199C>G (p.Pro1733=) c.5349C>G (p.Pro1783=) c.*5865C>G (n.*5865C>G) c.*8101C>G (n.*8101C>G) c.5352C>G (p.Pro1784=) c.5283C>G (p.Pro1761=) c.5151C>G (p.Pro1717=) c.5184C>G (p.Pro1728=) c.1575C>G n.3234C>G c.4006C>G c.5211C>G (p.Pro1737=) n.949C>G c.5154C>G (p.Pro1718=) c.5220C>G (p.Pro1740=) c.5145C>G (p.Pro1715=) n.3000C>G c.5277C>G (p.Pro1759=) c.5223C>G (p.Pro1741=) c.5238C>G (p.Pro1746=) c.5148C>G (p.Pro1716=) c.5273C>G n.3436C>G c.5346C>G (p.Pro1782=) n.4167C>G n.2604C>G n.2575C>G n.2465C>G c.5007C>G (p.Pro1669=) c.*4519C>G (n.*4519C>G) c.5043C>G (p.Pro1681=) n.3075C>G c.1534C>G n.2467C>G c.5406C>G (p.Pro1802=) c.5403C>G (p.Pro1801=) c.5295C>G (p.Pro1765=) c.5274C>G (p.Pro1758=) c.4620C>G (p.Pro1540=) c.5568C>G (p.Pro1856=) c.5316C>G (p.Pro1772=) c.4062C>G (p.Pro1354=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088538C>T | CA493043725 | TSC2 | c.*3701C>T (n.*3701C>T) c.5199C>T (p.Pro1733=) c.5349C>T (p.Pro1783=) c.*5865C>T (n.*5865C>T) c.*8101C>T (n.*8101C>T) c.5352C>T (p.Pro1784=) c.5283C>T (p.Pro1761=) c.5151C>T (p.Pro1717=) c.5184C>T (p.Pro1728=) c.1575C>T n.3234C>T c.4006C>T c.5211C>T (p.Pro1737=) n.949C>T c.5154C>T (p.Pro1718=) c.5220C>T (p.Pro1740=) c.5145C>T (p.Pro1715=) n.3000C>T c.5277C>T (p.Pro1759=) c.5223C>T (p.Pro1741=) c.5238C>T (p.Pro1746=) c.5148C>T (p.Pro1716=) c.5273C>T n.3436C>T c.5346C>T (p.Pro1782=) n.4167C>T n.2604C>T n.2575C>T n.2465C>T c.5007C>T (p.Pro1669=) c.*4519C>T (n.*4519C>T) c.5043C>T (p.Pro1681=) n.3075C>T c.1534C>T n.2467C>T c.5406C>T (p.Pro1802=) c.5403C>T (p.Pro1801=) c.5295C>T (p.Pro1765=) c.5274C>T (p.Pro1758=) c.4620C>T (p.Pro1540=) c.5568C>T (p.Pro1856=) c.5316C>T (p.Pro1772=) c.4062C>T (p.Pro1354=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088539A= | CA2202034116 | TSC2 | c.*3702A= (n.*3702A=) c.5200A= (p.Thr1734=) c.5350A= (p.Thr1784=) c.*5866A= (n.*5866A=) c.*8102A= (n.*8102A=) c.5353A= (p.Thr1785=) c.5284A= (p.Thr1762=) c.5152A= (p.Thr1718=) c.5185A= (p.Thr1729=) c.1576A= n.3235A= c.4007A= c.5212A= (p.Thr1738=) n.950A= c.5155A= (p.Thr1719=) c.5221A= (p.Thr1741=) c.5146A= (p.Thr1716=) n.3001A= c.5278A= (p.Thr1760=) c.5224A= (p.Thr1742=) c.5239A= (p.Thr1747=) c.5149A= (p.Thr1717=) c.5274A= n.3437A= c.5347A= (p.Thr1783=) n.4168A= n.2605A= n.2576A= n.2466A= c.5008A= (p.Thr1670=) c.*4520A= (n.*4520A=) c.5044A= (p.Thr1682=) n.3076A= c.1535A= n.2468A= c.5407A= (p.Thr1803=) c.5404A= (p.Thr1802=) c.5296A= (p.Thr1766=) c.5275A= (p.Thr1759=) c.4621A= (p.Thr1541=) c.5569A= (p.Thr1857=) c.5317A= (p.Thr1773=) c.4063A= (p.Thr1355=) | |
16 | g.2088539A>C | CA394315744 | TSC2 | c.*3702A>C (n.*3702A>C) c.5200A>C (p.Thr1734Pro) c.5350A>C (p.Thr1784Pro) c.*5866A>C (n.*5866A>C) c.*8102A>C (n.*8102A>C) c.5353A>C (p.Thr1785Pro) c.5284A>C (p.Thr1762Pro) c.5152A>C (p.Thr1718Pro) c.5185A>C (p.Thr1729Pro) c.1576A>C n.3235A>C c.4007A>C c.5212A>C (p.Thr1738Pro) n.950A>C c.5155A>C (p.Thr1719Pro) c.5221A>C (p.Thr1741Pro) c.5146A>C (p.Thr1716Pro) n.3001A>C c.5278A>C (p.Thr1760Pro) c.5224A>C (p.Thr1742Pro) c.5239A>C (p.Thr1747Pro) c.5149A>C (p.Thr1717Pro) c.5274A>C n.3437A>C c.5347A>C (p.Thr1783Pro) n.4168A>C n.2605A>C n.2576A>C n.2466A>C c.5008A>C (p.Thr1670Pro) c.*4520A>C (n.*4520A>C) c.5044A>C (p.Thr1682Pro) n.3076A>C c.1535A>C n.2468A>C c.5407A>C (p.Thr1803Pro) c.5404A>C (p.Thr1802Pro) c.5296A>C (p.Thr1766Pro) c.5275A>C (p.Thr1759Pro) c.4621A>C (p.Thr1541Pro) c.5569A>C (p.Thr1857Pro) c.5317A>C (p.Thr1773Pro) c.4063A>C (p.Thr1355Pro) | ClinVar dbSNP |
16 | g.2088539A>G | CA394315757 | TSC2 | c.*3702A>G (n.*3702A>G) c.5200A>G (p.Thr1734Ala) c.5350A>G (p.Thr1784Ala) c.*5866A>G (n.*5866A>G) c.*8102A>G (n.*8102A>G) c.5353A>G (p.Thr1785Ala) c.5284A>G (p.Thr1762Ala) c.5152A>G (p.Thr1718Ala) c.5185A>G (p.Thr1729Ala) c.1576A>G n.3235A>G c.4007A>G c.5212A>G (p.Thr1738Ala) n.950A>G c.5155A>G (p.Thr1719Ala) c.5221A>G (p.Thr1741Ala) c.5146A>G (p.Thr1716Ala) n.3001A>G c.5278A>G (p.Thr1760Ala) c.5224A>G (p.Thr1742Ala) c.5239A>G (p.Thr1747Ala) c.5149A>G (p.Thr1717Ala) c.5274A>G n.3437A>G c.5347A>G (p.Thr1783Ala) n.4168A>G n.2605A>G n.2576A>G n.2466A>G c.5008A>G (p.Thr1670Ala) c.*4520A>G (n.*4520A>G) c.5044A>G (p.Thr1682Ala) n.3076A>G c.1535A>G n.2468A>G c.5407A>G (p.Thr1803Ala) c.5404A>G (p.Thr1802Ala) c.5296A>G (p.Thr1766Ala) c.5275A>G (p.Thr1759Ala) c.4621A>G (p.Thr1541Ala) c.5569A>G (p.Thr1857Ala) c.5317A>G (p.Thr1773Ala) c.4063A>G (p.Thr1355Ala) | ClinVar dbSNP |
16 | g.2088539A>T | CA394315746 | TSC2 | c.*3702A>T (n.*3702A>T) c.5200A>T (p.Thr1734Ser) c.5350A>T (p.Thr1784Ser) c.*5866A>T (n.*5866A>T) c.*8102A>T (n.*8102A>T) c.5353A>T (p.Thr1785Ser) c.5284A>T (p.Thr1762Ser) c.5152A>T (p.Thr1718Ser) c.5185A>T (p.Thr1729Ser) c.1576A>T n.3235A>T c.4007A>T c.5212A>T (p.Thr1738Ser) n.950A>T c.5155A>T (p.Thr1719Ser) c.5221A>T (p.Thr1741Ser) c.5146A>T (p.Thr1716Ser) n.3001A>T c.5278A>T (p.Thr1760Ser) c.5224A>T (p.Thr1742Ser) c.5239A>T (p.Thr1747Ser) c.5149A>T (p.Thr1717Ser) c.5274A>T n.3437A>T c.5347A>T (p.Thr1783Ser) n.4168A>T n.2605A>T n.2576A>T n.2466A>T c.5008A>T (p.Thr1670Ser) c.*4520A>T (n.*4520A>T) c.5044A>T (p.Thr1682Ser) n.3076A>T c.1535A>T n.2468A>T c.5407A>T (p.Thr1803Ser) c.5404A>T (p.Thr1802Ser) c.5296A>T (p.Thr1766Ser) c.5275A>T (p.Thr1759Ser) c.4621A>T (p.Thr1541Ser) c.5569A>T (p.Thr1857Ser) c.5317A>T (p.Thr1773Ser) c.4063A>T (p.Thr1355Ser) | ClinVar dbSNP |
16 | g.2088540C>A | CA394315758 | TSC2 | c.*3703C>A (n.*3703C>A) c.5201C>A (p.Thr1734Lys) c.5351C>A (p.Thr1784Lys) c.*5867C>A (n.*5867C>A) c.*8103C>A (n.*8103C>A) c.5354C>A (p.Thr1785Lys) c.5285C>A (p.Thr1762Lys) c.5153C>A (p.Thr1718Lys) c.5186C>A (p.Thr1729Lys) c.1577C>A n.3236C>A c.4008C>A c.5213C>A (p.Thr1738Lys) n.951C>A c.5156C>A (p.Thr1719Lys) c.5222C>A (p.Thr1741Lys) c.5147C>A (p.Thr1716Lys) n.3002C>A c.5279C>A (p.Thr1760Lys) c.5225C>A (p.Thr1742Lys) c.5240C>A (p.Thr1747Lys) c.5150C>A (p.Thr1717Lys) c.5275C>A n.3438C>A c.5348C>A (p.Thr1783Lys) n.4169C>A n.2606C>A n.2577C>A n.2467C>A c.5009C>A (p.Thr1670Lys) c.*4521C>A (n.*4521C>A) c.5045C>A (p.Thr1682Lys) n.3077C>A c.1536C>A n.2469C>A c.5408C>A (p.Thr1803Lys) c.5405C>A (p.Thr1802Lys) c.5297C>A (p.Thr1766Lys) c.5276C>A (p.Thr1759Lys) c.4622C>A (p.Thr1541Lys) c.5570C>A (p.Thr1857Lys) c.5318C>A (p.Thr1773Lys) c.4064C>A (p.Thr1355Lys) | |
16 | g.2088540C>G | CA394315759 | TSC2 | c.*3703C>G (n.*3703C>G) c.5201C>G (p.Thr1734Arg) c.5351C>G (p.Thr1784Arg) c.*5867C>G (n.*5867C>G) c.*8103C>G (n.*8103C>G) c.5354C>G (p.Thr1785Arg) c.5285C>G (p.Thr1762Arg) c.5153C>G (p.Thr1718Arg) c.5186C>G (p.Thr1729Arg) c.1577C>G n.3236C>G c.4008C>G c.5213C>G (p.Thr1738Arg) n.951C>G c.5156C>G (p.Thr1719Arg) c.5222C>G (p.Thr1741Arg) c.5147C>G (p.Thr1716Arg) n.3002C>G c.5279C>G (p.Thr1760Arg) c.5225C>G (p.Thr1742Arg) c.5240C>G (p.Thr1747Arg) c.5150C>G (p.Thr1717Arg) c.5275C>G n.3438C>G c.5348C>G (p.Thr1783Arg) n.4169C>G n.2606C>G n.2577C>G n.2467C>G c.5009C>G (p.Thr1670Arg) c.*4521C>G (n.*4521C>G) c.5045C>G (p.Thr1682Arg) n.3077C>G c.1536C>G n.2469C>G c.5408C>G (p.Thr1803Arg) c.5405C>G (p.Thr1802Arg) c.5297C>G (p.Thr1766Arg) c.5276C>G (p.Thr1759Arg) c.4622C>G (p.Thr1541Arg) c.5570C>G (p.Thr1857Arg) c.5318C>G (p.Thr1773Arg) c.4064C>G (p.Thr1355Arg) | |
16 | g.2088540C>T | CA394315760 | TSC2 | c.*3703C>T (n.*3703C>T) c.5201C>T (p.Thr1734Ile) c.5351C>T (p.Thr1784Ile) c.*5867C>T (n.*5867C>T) c.*8103C>T (n.*8103C>T) c.5354C>T (p.Thr1785Ile) c.5285C>T (p.Thr1762Ile) c.5153C>T (p.Thr1718Ile) c.5186C>T (p.Thr1729Ile) c.1577C>T n.3236C>T c.4008C>T c.5213C>T (p.Thr1738Ile) n.951C>T c.5156C>T (p.Thr1719Ile) c.5222C>T (p.Thr1741Ile) c.5147C>T (p.Thr1716Ile) n.3002C>T c.5279C>T (p.Thr1760Ile) c.5225C>T (p.Thr1742Ile) c.5240C>T (p.Thr1747Ile) c.5150C>T (p.Thr1717Ile) c.5275C>T n.3438C>T c.5348C>T (p.Thr1783Ile) n.4169C>T n.2606C>T n.2577C>T n.2467C>T c.5009C>T (p.Thr1670Ile) c.*4521C>T (n.*4521C>T) c.5045C>T (p.Thr1682Ile) n.3077C>T c.1536C>T n.2469C>T c.5408C>T (p.Thr1803Ile) c.5405C>T (p.Thr1802Ile) c.5297C>T (p.Thr1766Ile) c.5276C>T (p.Thr1759Ile) c.4622C>T (p.Thr1541Ile) c.5570C>T (p.Thr1857Ile) c.5318C>T (p.Thr1773Ile) c.4064C>T (p.Thr1355Ile) | |
16 | g.2088541A= | CA2202034121 | TSC2 | c.*3704A= (n.*3704A=) c.5202A= (p.Thr1734=) c.5352A= (p.Thr1784=) c.*5868A= (n.*5868A=) c.*8104A= (n.*8104A=) c.5355A= (p.Thr1785=) c.5286A= (p.Thr1762=) c.5154A= (p.Thr1718=) c.5187A= (p.Thr1729=) c.1578A= n.3237A= c.4009A= c.5214A= (p.Thr1738=) n.952A= c.5157A= (p.Thr1719=) c.5223A= (p.Thr1741=) c.5148A= (p.Thr1716=) n.3003A= c.5280A= (p.Thr1760=) c.5226A= (p.Thr1742=) c.5241A= (p.Thr1747=) c.5151A= (p.Thr1717=) c.5276A= n.3439A= c.5349A= (p.Thr1783=) n.4170A= n.2607A= n.2578A= n.2468A= c.5010A= (p.Thr1670=) c.*4522A= (n.*4522A=) c.5046A= (p.Thr1682=) n.3078A= c.1537A= n.2470A= c.5409A= (p.Thr1803=) c.5406A= (p.Thr1802=) c.5298A= (p.Thr1766=) c.5277A= (p.Thr1759=) c.4623A= (p.Thr1541=) c.5571A= (p.Thr1857=) c.5319A= (p.Thr1773=) c.4065A= (p.Thr1355=) | |
16 | g.2088541A>C | CA493043726 | TSC2 | c.*3704A>C (n.*3704A>C) c.5202A>C (p.Thr1734=) c.5352A>C (p.Thr1784=) c.*5868A>C (n.*5868A>C) c.*8104A>C (n.*8104A>C) c.5355A>C (p.Thr1785=) c.5286A>C (p.Thr1762=) c.5154A>C (p.Thr1718=) c.5187A>C (p.Thr1729=) c.1578A>C n.3237A>C c.4009A>C c.5214A>C (p.Thr1738=) n.952A>C c.5157A>C (p.Thr1719=) c.5223A>C (p.Thr1741=) c.5148A>C (p.Thr1716=) n.3003A>C c.5280A>C (p.Thr1760=) c.5226A>C (p.Thr1742=) c.5241A>C (p.Thr1747=) c.5151A>C (p.Thr1717=) c.5276A>C n.3439A>C c.5349A>C (p.Thr1783=) n.4170A>C n.2607A>C n.2578A>C n.2468A>C c.5010A>C (p.Thr1670=) c.*4522A>C (n.*4522A>C) c.5046A>C (p.Thr1682=) n.3078A>C c.1537A>C n.2470A>C c.5409A>C (p.Thr1803=) c.5406A>C (p.Thr1802=) c.5298A>C (p.Thr1766=) c.5277A>C (p.Thr1759=) c.4623A>C (p.Thr1541=) c.5571A>C (p.Thr1857=) c.5319A>C (p.Thr1773=) c.4065A>C (p.Thr1355=) | |
16 | g.2088541A>G | CA16608080 | TSC2 | c.*3704A>G (n.*3704A>G) c.5202A>G (p.Thr1734=) c.5352A>G (p.Thr1784=) c.*5868A>G (n.*5868A>G) c.*8104A>G (n.*8104A>G) c.5355A>G (p.Thr1785=) c.5286A>G (p.Thr1762=) c.5154A>G (p.Thr1718=) c.5187A>G (p.Thr1729=) c.1578A>G n.3237A>G c.4009A>G c.5214A>G (p.Thr1738=) n.952A>G c.5157A>G (p.Thr1719=) c.5223A>G (p.Thr1741=) c.5148A>G (p.Thr1716=) n.3003A>G c.5280A>G (p.Thr1760=) c.5226A>G (p.Thr1742=) c.5241A>G (p.Thr1747=) c.5151A>G (p.Thr1717=) c.5276A>G n.3439A>G c.5349A>G (p.Thr1783=) n.4170A>G n.2607A>G n.2578A>G n.2468A>G c.5010A>G (p.Thr1670=) c.*4522A>G (n.*4522A>G) c.5046A>G (p.Thr1682=) n.3078A>G c.1537A>G n.2470A>G c.5409A>G (p.Thr1803=) c.5406A>G (p.Thr1802=) c.5298A>G (p.Thr1766=) c.5277A>G (p.Thr1759=) c.4623A>G (p.Thr1541=) c.5571A>G (p.Thr1857=) c.5319A>G (p.Thr1773=) c.4065A>G (p.Thr1355=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088541A>T | CA493043727 | TSC2 | c.*3704A>T (n.*3704A>T) c.5202A>T (p.Thr1734=) c.5352A>T (p.Thr1784=) c.*5868A>T (n.*5868A>T) c.*8104A>T (n.*8104A>T) c.5355A>T (p.Thr1785=) c.5286A>T (p.Thr1762=) c.5154A>T (p.Thr1718=) c.5187A>T (p.Thr1729=) c.1578A>T n.3237A>T c.4009A>T c.5214A>T (p.Thr1738=) n.952A>T c.5157A>T (p.Thr1719=) c.5223A>T (p.Thr1741=) c.5148A>T (p.Thr1716=) n.3003A>T c.5280A>T (p.Thr1760=) c.5226A>T (p.Thr1742=) c.5241A>T (p.Thr1747=) c.5151A>T (p.Thr1717=) c.5276A>T n.3439A>T c.5349A>T (p.Thr1783=) n.4170A>T n.2607A>T n.2578A>T n.2468A>T c.5010A>T (p.Thr1670=) c.*4522A>T (n.*4522A>T) c.5046A>T (p.Thr1682=) n.3078A>T c.1537A>T n.2470A>T c.5409A>T (p.Thr1803=) c.5406A>T (p.Thr1802=) c.5298A>T (p.Thr1766=) c.5277A>T (p.Thr1759=) c.4623A>T (p.Thr1541=) c.5571A>T (p.Thr1857=) c.5319A>T (p.Thr1773=) c.4065A>T (p.Thr1355=) | |
16 | g.2088542C>A | CA394315765 | TSC2 | c.*3705C>A (n.*3705C>A) c.5203C>A (p.Pro1735Thr) c.5353C>A (p.Pro1785Thr) c.*5869C>A (n.*5869C>A) c.*8105C>A (n.*8105C>A) c.5356C>A (p.Pro1786Thr) c.5287C>A (p.Pro1763Thr) c.5155C>A (p.Pro1719Thr) c.5188C>A (p.Pro1730Thr) c.1579C>A n.3238C>A c.4010C>A c.5215C>A (p.Pro1739Thr) n.953C>A c.5158C>A (p.Pro1720Thr) c.5224C>A (p.Pro1742Thr) c.5149C>A (p.Pro1717Thr) n.3004C>A c.5281C>A (p.Pro1761Thr) c.5227C>A (p.Pro1743Thr) c.5242C>A (p.Pro1748Thr) c.5152C>A (p.Pro1718Thr) c.5277C>A n.3440C>A c.5350C>A (p.Pro1784Thr) n.4171C>A n.2608C>A n.2579C>A n.2469C>A c.5011C>A (p.Pro1671Thr) c.*4523C>A (n.*4523C>A) c.5047C>A (p.Pro1683Thr) n.3079C>A c.1538C>A n.2471C>A c.5410C>A (p.Pro1804Thr) c.5407C>A (p.Pro1803Thr) c.5299C>A (p.Pro1767Thr) c.5278C>A (p.Pro1760Thr) c.4624C>A (p.Pro1542Thr) c.5572C>A (p.Pro1858Thr) c.5320C>A (p.Pro1774Thr) c.4066C>A (p.Pro1356Thr) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088542C= | CA2202034128 | TSC2 | c.*3705C= (n.*3705C=) c.5203C= (p.Pro1735=) c.5353C= (p.Pro1785=) c.*5869C= (n.*5869C=) c.*8105C= (n.*8105C=) c.5356C= (p.Pro1786=) c.5287C= (p.Pro1763=) c.5155C= (p.Pro1719=) c.5188C= (p.Pro1730=) c.1579C= n.3238C= c.4010C= c.5215C= (p.Pro1739=) n.953C= c.5158C= (p.Pro1720=) c.5224C= (p.Pro1742=) c.5149C= (p.Pro1717=) n.3004C= c.5281C= (p.Pro1761=) c.5227C= (p.Pro1743=) c.5242C= (p.Pro1748=) c.5152C= (p.Pro1718=) c.5277C= n.3440C= c.5350C= (p.Pro1784=) n.4171C= n.2608C= n.2579C= n.2469C= c.5011C= (p.Pro1671=) c.*4523C= (n.*4523C=) c.5047C= (p.Pro1683=) n.3079C= c.1538C= n.2471C= c.5410C= (p.Pro1804=) c.5407C= (p.Pro1803=) c.5299C= (p.Pro1767=) c.5278C= (p.Pro1760=) c.4624C= (p.Pro1542=) c.5572C= (p.Pro1858=) c.5320C= (p.Pro1774=) c.4066C= (p.Pro1356=) | |
16 | g.2088542C>G | CA394315767 | TSC2 | c.*3705C>G (n.*3705C>G) c.5203C>G (p.Pro1735Ala) c.5353C>G (p.Pro1785Ala) c.*5869C>G (n.*5869C>G) c.*8105C>G (n.*8105C>G) c.5356C>G (p.Pro1786Ala) c.5287C>G (p.Pro1763Ala) c.5155C>G (p.Pro1719Ala) c.5188C>G (p.Pro1730Ala) c.1579C>G n.3238C>G c.4010C>G c.5215C>G (p.Pro1739Ala) n.953C>G c.5158C>G (p.Pro1720Ala) c.5224C>G (p.Pro1742Ala) c.5149C>G (p.Pro1717Ala) n.3004C>G c.5281C>G (p.Pro1761Ala) c.5227C>G (p.Pro1743Ala) c.5242C>G (p.Pro1748Ala) c.5152C>G (p.Pro1718Ala) c.5277C>G n.3440C>G c.5350C>G (p.Pro1784Ala) n.4171C>G n.2608C>G n.2579C>G n.2469C>G c.5011C>G (p.Pro1671Ala) c.*4523C>G (n.*4523C>G) c.5047C>G (p.Pro1683Ala) n.3079C>G c.1538C>G n.2471C>G c.5410C>G (p.Pro1804Ala) c.5407C>G (p.Pro1803Ala) c.5299C>G (p.Pro1767Ala) c.5278C>G (p.Pro1760Ala) c.4624C>G (p.Pro1542Ala) c.5572C>G (p.Pro1858Ala) c.5320C>G (p.Pro1774Ala) c.4066C>G (p.Pro1356Ala) | |
16 | g.2088542C>T | CA055190 | TSC2 | c.*3705C>T (n.*3705C>T) c.5203C>T (p.Pro1735Ser) c.5353C>T (p.Pro1785Ser) c.*5869C>T (n.*5869C>T) c.*8105C>T (n.*8105C>T) c.5356C>T (p.Pro1786Ser) c.5287C>T (p.Pro1763Ser) c.5155C>T (p.Pro1719Ser) c.5188C>T (p.Pro1730Ser) c.1579C>T n.3238C>T c.4010C>T c.5215C>T (p.Pro1739Ser) n.953C>T c.5158C>T (p.Pro1720Ser) c.5224C>T (p.Pro1742Ser) c.5149C>T (p.Pro1717Ser) n.3004C>T c.5281C>T (p.Pro1761Ser) c.5227C>T (p.Pro1743Ser) c.5242C>T (p.Pro1748Ser) c.5152C>T (p.Pro1718Ser) c.5277C>T n.3440C>T c.5350C>T (p.Pro1784Ser) n.4171C>T n.2608C>T n.2579C>T n.2469C>T c.5011C>T (p.Pro1671Ser) c.*4523C>T (n.*4523C>T) c.5047C>T (p.Pro1683Ser) n.3079C>T c.1538C>T n.2471C>T c.5410C>T (p.Pro1804Ser) c.5407C>T (p.Pro1803Ser) c.5299C>T (p.Pro1767Ser) c.5278C>T (p.Pro1760Ser) c.4624C>T (p.Pro1542Ser) c.5572C>T (p.Pro1858Ser) c.5320C>T (p.Pro1774Ser) c.4066C>T (p.Pro1356Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2088543C>A | CA394315772 | TSC2 | c.*3706C>A (n.*3706C>A) c.5204C>A (p.Pro1735His) c.5354C>A (p.Pro1785His) c.*5870C>A (n.*5870C>A) c.*8106C>A (n.*8106C>A) c.5357C>A (p.Pro1786His) c.5288C>A (p.Pro1763His) c.5156C>A (p.Pro1719His) c.5189C>A (p.Pro1730His) c.1580C>A n.3239C>A c.4011C>A c.5216C>A (p.Pro1739His) n.954C>A c.5159C>A (p.Pro1720His) c.5225C>A (p.Pro1742His) c.5150C>A (p.Pro1717His) n.3005C>A c.5282C>A (p.Pro1761His) c.5228C>A (p.Pro1743His) c.5243C>A (p.Pro1748His) c.5153C>A (p.Pro1718His) c.5278C>A n.3441C>A c.5351C>A (p.Pro1784His) n.4172C>A n.2609C>A n.2580C>A n.2470C>A c.5012C>A (p.Pro1671His) c.*4524C>A (n.*4524C>A) c.5048C>A (p.Pro1683His) n.3080C>A c.1539C>A n.2472C>A c.5411C>A (p.Pro1804His) c.5408C>A (p.Pro1803His) c.5300C>A (p.Pro1767His) c.5279C>A (p.Pro1760His) c.4625C>A (p.Pro1542His) c.5573C>A (p.Pro1858His) c.5321C>A (p.Pro1774His) c.4067C>A (p.Pro1356His) | |
16 | g.2088543C= | CA2202034140 | TSC2 | c.*3706C= (n.*3706C=) c.5204C= (p.Pro1735=) c.5354C= (p.Pro1785=) c.*5870C= (n.*5870C=) c.*8106C= (n.*8106C=) c.5357C= (p.Pro1786=) c.5288C= (p.Pro1763=) c.5156C= (p.Pro1719=) c.5189C= (p.Pro1730=) c.1580C= n.3239C= c.4011C= c.5216C= (p.Pro1739=) n.954C= c.5159C= (p.Pro1720=) c.5225C= (p.Pro1742=) c.5150C= (p.Pro1717=) n.3005C= c.5282C= (p.Pro1761=) c.5228C= (p.Pro1743=) c.5243C= (p.Pro1748=) c.5153C= (p.Pro1718=) c.5278C= n.3441C= c.5351C= (p.Pro1784=) n.4172C= n.2609C= n.2580C= n.2470C= c.5012C= (p.Pro1671=) c.*4524C= (n.*4524C=) c.5048C= (p.Pro1683=) n.3080C= c.1539C= n.2472C= c.5411C= (p.Pro1804=) c.5408C= (p.Pro1803=) c.5300C= (p.Pro1767=) c.5279C= (p.Pro1760=) c.4625C= (p.Pro1542=) c.5573C= (p.Pro1858=) c.5321C= (p.Pro1774=) c.4067C= (p.Pro1356=) | |
16 | g.2088543C>G | CA055199 | TSC2 | c.*3706C>G (n.*3706C>G) c.5204C>G (p.Pro1735Arg) c.5354C>G (p.Pro1785Arg) c.*5870C>G (n.*5870C>G) c.*8106C>G (n.*8106C>G) c.5357C>G (p.Pro1786Arg) c.5288C>G (p.Pro1763Arg) c.5156C>G (p.Pro1719Arg) c.5189C>G (p.Pro1730Arg) c.1580C>G n.3239C>G c.4011C>G c.5216C>G (p.Pro1739Arg) n.954C>G c.5159C>G (p.Pro1720Arg) c.5225C>G (p.Pro1742Arg) c.5150C>G (p.Pro1717Arg) n.3005C>G c.5282C>G (p.Pro1761Arg) c.5228C>G (p.Pro1743Arg) c.5243C>G (p.Pro1748Arg) c.5153C>G (p.Pro1718Arg) c.5278C>G n.3441C>G c.5351C>G (p.Pro1784Arg) n.4172C>G n.2609C>G n.2580C>G n.2470C>G c.5012C>G (p.Pro1671Arg) c.*4524C>G (n.*4524C>G) c.5048C>G (p.Pro1683Arg) n.3080C>G c.1539C>G n.2472C>G c.5411C>G (p.Pro1804Arg) c.5408C>G (p.Pro1803Arg) c.5300C>G (p.Pro1767Arg) c.5279C>G (p.Pro1760Arg) c.4625C>G (p.Pro1542Arg) c.5573C>G (p.Pro1858Arg) c.5321C>G (p.Pro1774Arg) c.4067C>G (p.Pro1356Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088543C>T | CA394315777 | TSC2 | c.*3706C>T (n.*3706C>T) c.5204C>T (p.Pro1735Leu) c.5354C>T (p.Pro1785Leu) c.*5870C>T (n.*5870C>T) c.*8106C>T (n.*8106C>T) c.5357C>T (p.Pro1786Leu) c.5288C>T (p.Pro1763Leu) c.5156C>T (p.Pro1719Leu) c.5189C>T (p.Pro1730Leu) c.1580C>T n.3239C>T c.4011C>T c.5216C>T (p.Pro1739Leu) n.954C>T c.5159C>T (p.Pro1720Leu) c.5225C>T (p.Pro1742Leu) c.5150C>T (p.Pro1717Leu) n.3005C>T c.5282C>T (p.Pro1761Leu) c.5228C>T (p.Pro1743Leu) c.5243C>T (p.Pro1748Leu) c.5153C>T (p.Pro1718Leu) c.5278C>T n.3441C>T c.5351C>T (p.Pro1784Leu) n.4172C>T n.2609C>T n.2580C>T n.2470C>T c.5012C>T (p.Pro1671Leu) c.*4524C>T (n.*4524C>T) c.5048C>T (p.Pro1683Leu) n.3080C>T c.1539C>T n.2472C>T c.5411C>T (p.Pro1804Leu) c.5408C>T (p.Pro1803Leu) c.5300C>T (p.Pro1767Leu) c.5279C>T (p.Pro1760Leu) c.4625C>T (p.Pro1542Leu) c.5573C>T (p.Pro1858Leu) c.5321C>T (p.Pro1774Leu) c.4067C>T (p.Pro1356Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088544del | CA2573054169 | TSC2 | c.*3707del (n.*3707del) c.5205del (p.Gly1736AlafsTer?) c.5355del (p.Gly1786AlafsTer?) c.*5871del (n.*5871del) c.*8107del (n.*8107del) c.5358del (p.Gly1787AlafsTer?) c.5289del (p.Gly1764AlafsTer?) c.5157del (p.Gly1720AlafsTer?) c.5190del (p.Gly1731AlafsTer?) c.1581del n.3240del c.4012del c.5217del (p.Gly1740AlafsTer?) n.955del c.5160del (p.Gly1721AlafsTer?) c.5226del (p.Gly1743AlafsTer?) c.5151del (p.Gly1718AlafsTer?) n.3006del c.5283del (p.Gly1762AlafsTer?) c.5229del (p.Gly1744AlafsTer?) c.5244del (p.Gly1749AlafsTer?) c.5154del (p.Gly1719AlafsTer?) c.5279del n.3442del c.5352del (p.Gly1785AlafsTer?) n.4173del n.2610del n.2581del n.2471del c.5013del (p.Gly1672AlafsTer?) c.*4525del (n.*4525del) c.5049del (p.Gly1684AlafsTer?) n.3081del c.1540del n.2473del c.5412del (p.Gly1805AlafsTer?) c.5409del (p.Gly1804AlafsTer?) c.5301del (p.Gly1768AlafsTer?) c.5280del (p.Gly1761AlafsTer?) c.4626del (p.Gly1543AlafsTer?) c.5574del (p.Gly1859AlafsTer?) c.5322del (p.Gly1775AlafsTer?) c.4068del (p.Gly1357AlafsTer?) | ClinVar dbSNP |
16 | g.2088544T>A | CA493043731 | TSC2 | c.*3707T>A (n.*3707T>A) c.5205T>A (p.Pro1735=) c.5355T>A (p.Pro1785=) c.*5871T>A (n.*5871T>A) c.*8107T>A (n.*8107T>A) c.5358T>A (p.Pro1786=) c.5289T>A (p.Pro1763=) c.5157T>A (p.Pro1719=) c.5190T>A (p.Pro1730=) c.1581T>A n.3240T>A c.4012T>A c.5217T>A (p.Pro1739=) n.955T>A c.5160T>A (p.Pro1720=) c.5226T>A (p.Pro1742=) c.5151T>A (p.Pro1717=) n.3006T>A c.5283T>A (p.Pro1761=) c.5229T>A (p.Pro1743=) c.5244T>A (p.Pro1748=) c.5154T>A (p.Pro1718=) c.5279T>A n.3442T>A c.5352T>A (p.Pro1784=) n.4173T>A n.2610T>A n.2581T>A n.2471T>A c.5013T>A (p.Pro1671=) c.*4525T>A (n.*4525T>A) c.5049T>A (p.Pro1683=) n.3081T>A c.1540T>A n.2473T>A c.5412T>A (p.Pro1804=) c.5409T>A (p.Pro1803=) c.5301T>A (p.Pro1767=) c.5280T>A (p.Pro1760=) c.4626T>A (p.Pro1542=) c.5574T>A (p.Pro1858=) c.5322T>A (p.Pro1774=) c.4068T>A (p.Pro1356=) | |
16 | g.2088544T>C | CA493043732 | TSC2 | c.*3707T>C (n.*3707T>C) c.5205T>C (p.Pro1735=) c.5355T>C (p.Pro1785=) c.*5871T>C (n.*5871T>C) c.*8107T>C (n.*8107T>C) c.5358T>C (p.Pro1786=) c.5289T>C (p.Pro1763=) c.5157T>C (p.Pro1719=) c.5190T>C (p.Pro1730=) c.1581T>C n.3240T>C c.4012T>C c.5217T>C (p.Pro1739=) n.955T>C c.5160T>C (p.Pro1720=) c.5226T>C (p.Pro1742=) c.5151T>C (p.Pro1717=) n.3006T>C c.5283T>C (p.Pro1761=) c.5229T>C (p.Pro1743=) c.5244T>C (p.Pro1748=) c.5154T>C (p.Pro1718=) c.5279T>C n.3442T>C c.5352T>C (p.Pro1784=) n.4173T>C n.2610T>C n.2581T>C n.2471T>C c.5013T>C (p.Pro1671=) c.*4525T>C (n.*4525T>C) c.5049T>C (p.Pro1683=) n.3081T>C c.1540T>C n.2473T>C c.5412T>C (p.Pro1804=) c.5409T>C (p.Pro1803=) c.5301T>C (p.Pro1767=) c.5280T>C (p.Pro1760=) c.4626T>C (p.Pro1542=) c.5574T>C (p.Pro1858=) c.5322T>C (p.Pro1774=) c.4068T>C (p.Pro1356=) | ClinVar dbSNP |
16 | g.2088544T>G | CA493043733 | TSC2 | c.*3707T>G (n.*3707T>G) c.5205T>G (p.Pro1735=) c.5355T>G (p.Pro1785=) c.*5871T>G (n.*5871T>G) c.*8107T>G (n.*8107T>G) c.5358T>G (p.Pro1786=) c.5289T>G (p.Pro1763=) c.5157T>G (p.Pro1719=) c.5190T>G (p.Pro1730=) c.1581T>G n.3240T>G c.4012T>G c.5217T>G (p.Pro1739=) n.955T>G c.5160T>G (p.Pro1720=) c.5226T>G (p.Pro1742=) c.5151T>G (p.Pro1717=) n.3006T>G c.5283T>G (p.Pro1761=) c.5229T>G (p.Pro1743=) c.5244T>G (p.Pro1748=) c.5154T>G (p.Pro1718=) c.5279T>G n.3442T>G c.5352T>G (p.Pro1784=) n.4173T>G n.2610T>G n.2581T>G n.2471T>G c.5013T>G (p.Pro1671=) c.*4525T>G (n.*4525T>G) c.5049T>G (p.Pro1683=) n.3081T>G c.1540T>G n.2473T>G c.5412T>G (p.Pro1804=) c.5409T>G (p.Pro1803=) c.5301T>G (p.Pro1767=) c.5280T>G (p.Pro1760=) c.4626T>G (p.Pro1542=) c.5574T>G (p.Pro1858=) c.5322T>G (p.Pro1774=) c.4068T>G (p.Pro1356=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088544T= | CA2202034148 | TSC2 | c.*3707T= (n.*3707T=) c.5205T= (p.Pro1735=) c.5355T= (p.Pro1785=) c.*5871T= (n.*5871T=) c.*8107T= (n.*8107T=) c.5358T= (p.Pro1786=) c.5289T= (p.Pro1763=) c.5157T= (p.Pro1719=) c.5190T= (p.Pro1730=) c.1581T= n.3240T= c.4012T= c.5217T= (p.Pro1739=) n.955T= c.5160T= (p.Pro1720=) c.5226T= (p.Pro1742=) c.5151T= (p.Pro1717=) n.3006T= c.5283T= (p.Pro1761=) c.5229T= (p.Pro1743=) c.5244T= (p.Pro1748=) c.5154T= (p.Pro1718=) c.5279T= n.3442T= c.5352T= (p.Pro1784=) n.4173T= n.2610T= n.2581T= n.2471T= c.5013T= (p.Pro1671=) c.*4525T= (n.*4525T=) c.5049T= (p.Pro1683=) n.3081T= c.1540T= n.2473T= c.5412T= (p.Pro1804=) c.5409T= (p.Pro1803=) c.5301T= (p.Pro1767=) c.5280T= (p.Pro1760=) c.4626T= (p.Pro1542=) c.5574T= (p.Pro1858=) c.5322T= (p.Pro1774=) c.4068T= (p.Pro1356=) | |
16 | g.2088545G>A | CA022408 | TSC2 | c.*3708G>A (n.*3708G>A) c.5206G>A (p.Gly1736Ser) c.5356G>A (p.Gly1786Ser) c.*5872G>A (n.*5872G>A) c.*8108G>A (n.*8108G>A) c.5359G>A (p.Gly1787Ser) c.5290G>A (p.Gly1764Ser) c.5158G>A (p.Gly1720Ser) c.5191G>A (p.Gly1731Ser) c.1582G>A n.3241G>A c.4013G>A c.5218G>A (p.Gly1740Ser) n.956G>A c.5161G>A (p.Gly1721Ser) c.5227G>A (p.Gly1743Ser) c.5152G>A (p.Gly1718Ser) n.3007G>A c.5284G>A (p.Gly1762Ser) c.5230G>A (p.Gly1744Ser) c.5245G>A (p.Gly1749Ser) c.5155G>A (p.Gly1719Ser) c.5280G>A n.3443G>A c.5353G>A (p.Gly1785Ser) n.4174G>A n.2611G>A n.2582G>A n.2472G>A c.5014G>A (p.Gly1672Ser) c.*4526G>A (n.*4526G>A) c.5050G>A (p.Gly1684Ser) n.3082G>A c.1541G>A n.2474G>A c.5413G>A (p.Gly1805Ser) c.5410G>A (p.Gly1804Ser) c.5302G>A (p.Gly1768Ser) c.5281G>A (p.Gly1761Ser) c.4627G>A (p.Gly1543Ser) c.5575G>A (p.Gly1859Ser) c.5323G>A (p.Gly1775Ser) c.4069G>A (p.Gly1357Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088545G>C | CA394315814 | TSC2 | c.*3708G>C (n.*3708G>C) c.5206G>C (p.Gly1736Arg) c.5356G>C (p.Gly1786Arg) c.*5872G>C (n.*5872G>C) c.*8108G>C (n.*8108G>C) c.5359G>C (p.Gly1787Arg) c.5290G>C (p.Gly1764Arg) c.5158G>C (p.Gly1720Arg) c.5191G>C (p.Gly1731Arg) c.1582G>C n.3241G>C c.4013G>C c.5218G>C (p.Gly1740Arg) n.956G>C c.5161G>C (p.Gly1721Arg) c.5227G>C (p.Gly1743Arg) c.5152G>C (p.Gly1718Arg) n.3007G>C c.5284G>C (p.Gly1762Arg) c.5230G>C (p.Gly1744Arg) c.5245G>C (p.Gly1749Arg) c.5155G>C (p.Gly1719Arg) c.5280G>C n.3443G>C c.5353G>C (p.Gly1785Arg) n.4174G>C n.2611G>C n.2582G>C n.2472G>C c.5014G>C (p.Gly1672Arg) c.*4526G>C (n.*4526G>C) c.5050G>C (p.Gly1684Arg) n.3082G>C c.1541G>C n.2474G>C c.5413G>C (p.Gly1805Arg) c.5410G>C (p.Gly1804Arg) c.5302G>C (p.Gly1768Arg) c.5281G>C (p.Gly1761Arg) c.4627G>C (p.Gly1543Arg) c.5575G>C (p.Gly1859Arg) c.5323G>C (p.Gly1775Arg) c.4069G>C (p.Gly1357Arg) | |
16 | g.2088545G= | CA2202034158 | TSC2 | c.*3708G= (n.*3708G=) c.5206G= (p.Gly1736=) c.5356G= (p.Gly1786=) c.*5872G= (n.*5872G=) c.*8108G= (n.*8108G=) c.5359G= (p.Gly1787=) c.5290G= (p.Gly1764=) c.5158G= (p.Gly1720=) c.5191G= (p.Gly1731=) c.1582G= n.3241G= c.4013G= c.5218G= (p.Gly1740=) n.956G= c.5161G= (p.Gly1721=) c.5227G= (p.Gly1743=) c.5152G= (p.Gly1718=) n.3007G= c.5284G= (p.Gly1762=) c.5230G= (p.Gly1744=) c.5245G= (p.Gly1749=) c.5155G= (p.Gly1719=) c.5280G= n.3443G= c.5353G= (p.Gly1785=) n.4174G= n.2611G= n.2582G= n.2472G= c.5014G= (p.Gly1672=) c.*4526G= (n.*4526G=) c.5050G= (p.Gly1684=) n.3082G= c.1541G= n.2474G= c.5413G= (p.Gly1805=) c.5410G= (p.Gly1804=) c.5302G= (p.Gly1768=) c.5281G= (p.Gly1761=) c.4627G= (p.Gly1543=) c.5575G= (p.Gly1859=) c.5323G= (p.Gly1775=) c.4069G= (p.Gly1357=) | |
16 | g.2088545G>T | CA394315815 | TSC2 | c.*3708G>T (n.*3708G>T) c.5206G>T (p.Gly1736Cys) c.5356G>T (p.Gly1786Cys) c.*5872G>T (n.*5872G>T) c.*8108G>T (n.*8108G>T) c.5359G>T (p.Gly1787Cys) c.5290G>T (p.Gly1764Cys) c.5158G>T (p.Gly1720Cys) c.5191G>T (p.Gly1731Cys) c.1582G>T n.3241G>T c.4013G>T c.5218G>T (p.Gly1740Cys) n.956G>T c.5161G>T (p.Gly1721Cys) c.5227G>T (p.Gly1743Cys) c.5152G>T (p.Gly1718Cys) n.3007G>T c.5284G>T (p.Gly1762Cys) c.5230G>T (p.Gly1744Cys) c.5245G>T (p.Gly1749Cys) c.5155G>T (p.Gly1719Cys) c.5280G>T n.3443G>T c.5353G>T (p.Gly1785Cys) n.4174G>T n.2611G>T n.2582G>T n.2472G>T c.5014G>T (p.Gly1672Cys) c.*4526G>T (n.*4526G>T) c.5050G>T (p.Gly1684Cys) n.3082G>T c.1541G>T n.2474G>T c.5413G>T (p.Gly1805Cys) c.5410G>T (p.Gly1804Cys) c.5302G>T (p.Gly1768Cys) c.5281G>T (p.Gly1761Cys) c.4627G>T (p.Gly1543Cys) c.5575G>T (p.Gly1859Cys) c.5323G>T (p.Gly1775Cys) c.4069G>T (p.Gly1357Cys) | |
16 | g.2088546G>A | CA394315816 | TSC2 | c.*3709G>A (n.*3709G>A) c.5207G>A (p.Gly1736Asp) c.5357G>A (p.Gly1786Asp) c.*5873G>A (n.*5873G>A) c.*8109G>A (n.*8109G>A) c.5360G>A (p.Gly1787Asp) c.5291G>A (p.Gly1764Asp) c.5159G>A (p.Gly1720Asp) c.5192G>A (p.Gly1731Asp) c.1583G>A n.3242G>A c.4014G>A c.5219G>A (p.Gly1740Asp) n.957G>A c.5162G>A (p.Gly1721Asp) c.5228G>A (p.Gly1743Asp) c.5153G>A (p.Gly1718Asp) n.3008G>A c.5285G>A (p.Gly1762Asp) c.5231G>A (p.Gly1744Asp) c.5246G>A (p.Gly1749Asp) c.5156G>A (p.Gly1719Asp) c.5281G>A n.3444G>A c.5354G>A (p.Gly1785Asp) n.4175G>A n.2612G>A n.2583G>A n.2473G>A c.5015G>A (p.Gly1672Asp) c.*4527G>A (n.*4527G>A) c.5051G>A (p.Gly1684Asp) n.3083G>A c.1542G>A n.2475G>A c.5414G>A (p.Gly1805Asp) c.5411G>A (p.Gly1804Asp) c.5303G>A (p.Gly1768Asp) c.5282G>A (p.Gly1761Asp) c.4628G>A (p.Gly1543Asp) c.5576G>A (p.Gly1859Asp) c.5324G>A (p.Gly1775Asp) c.4070G>A (p.Gly1357Asp) | ClinVar |
16 | g.2088546G>C | CA394315818 | TSC2 | c.*3709G>C (n.*3709G>C) c.5207G>C (p.Gly1736Ala) c.5357G>C (p.Gly1786Ala) c.*5873G>C (n.*5873G>C) c.*8109G>C (n.*8109G>C) c.5360G>C (p.Gly1787Ala) c.5291G>C (p.Gly1764Ala) c.5159G>C (p.Gly1720Ala) c.5192G>C (p.Gly1731Ala) c.1583G>C n.3242G>C c.4014G>C c.5219G>C (p.Gly1740Ala) n.957G>C c.5162G>C (p.Gly1721Ala) c.5228G>C (p.Gly1743Ala) c.5153G>C (p.Gly1718Ala) n.3008G>C c.5285G>C (p.Gly1762Ala) c.5231G>C (p.Gly1744Ala) c.5246G>C (p.Gly1749Ala) c.5156G>C (p.Gly1719Ala) c.5281G>C n.3444G>C c.5354G>C (p.Gly1785Ala) n.4175G>C n.2612G>C n.2583G>C n.2473G>C c.5015G>C (p.Gly1672Ala) c.*4527G>C (n.*4527G>C) c.5051G>C (p.Gly1684Ala) n.3083G>C c.1542G>C n.2475G>C c.5414G>C (p.Gly1805Ala) c.5411G>C (p.Gly1804Ala) c.5303G>C (p.Gly1768Ala) c.5282G>C (p.Gly1761Ala) c.4628G>C (p.Gly1543Ala) c.5576G>C (p.Gly1859Ala) c.5324G>C (p.Gly1775Ala) c.4070G>C (p.Gly1357Ala) | |
16 | g.2088546G>T | CA394315817 | TSC2 | c.*3709G>T (n.*3709G>T) c.5207G>T (p.Gly1736Val) c.5357G>T (p.Gly1786Val) c.*5873G>T (n.*5873G>T) c.*8109G>T (n.*8109G>T) c.5360G>T (p.Gly1787Val) c.5291G>T (p.Gly1764Val) c.5159G>T (p.Gly1720Val) c.5192G>T (p.Gly1731Val) c.1583G>T n.3242G>T c.4014G>T c.5219G>T (p.Gly1740Val) n.957G>T c.5162G>T (p.Gly1721Val) c.5228G>T (p.Gly1743Val) c.5153G>T (p.Gly1718Val) n.3008G>T c.5285G>T (p.Gly1762Val) c.5231G>T (p.Gly1744Val) c.5246G>T (p.Gly1749Val) c.5156G>T (p.Gly1719Val) c.5281G>T n.3444G>T c.5354G>T (p.Gly1785Val) n.4175G>T n.2612G>T n.2583G>T n.2473G>T c.5015G>T (p.Gly1672Val) c.*4527G>T (n.*4527G>T) c.5051G>T (p.Gly1684Val) n.3083G>T c.1542G>T n.2475G>T c.5414G>T (p.Gly1805Val) c.5411G>T (p.Gly1804Val) c.5303G>T (p.Gly1768Val) c.5282G>T (p.Gly1761Val) c.4628G>T (p.Gly1543Val) c.5576G>T (p.Gly1859Val) c.5324G>T (p.Gly1775Val) c.4070G>T (p.Gly1357Val) | |
16 | g.2088547C>A | CA493043737 | TSC2 | c.*3710C>A (n.*3710C>A) c.5208C>A (p.Gly1736=) c.5358C>A (p.Gly1786=) c.*5874C>A (n.*5874C>A) c.*8110C>A (n.*8110C>A) c.5361C>A (p.Gly1787=) c.5292C>A (p.Gly1764=) c.5160C>A (p.Gly1720=) c.5193C>A (p.Gly1731=) c.1584C>A n.3243C>A c.4015C>A c.5220C>A (p.Gly1740=) n.958C>A c.5163C>A (p.Gly1721=) c.5229C>A (p.Gly1743=) c.5154C>A (p.Gly1718=) n.3009C>A c.5286C>A (p.Gly1762=) c.5232C>A (p.Gly1744=) c.5247C>A (p.Gly1749=) c.5157C>A (p.Gly1719=) c.5282C>A n.3445C>A c.5355C>A (p.Gly1785=) n.4176C>A n.2613C>A n.2584C>A n.2474C>A c.5016C>A (p.Gly1672=) c.*4528C>A (n.*4528C>A) c.5052C>A (p.Gly1684=) n.3084C>A c.1543C>A n.2476C>A c.5415C>A (p.Gly1805=) c.5412C>A (p.Gly1804=) c.5304C>A (p.Gly1768=) c.5283C>A (p.Gly1761=) c.4629C>A (p.Gly1543=) c.5577C>A (p.Gly1859=) c.5325C>A (p.Gly1775=) c.4071C>A (p.Gly1357=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088547C= | CA2202034166 | TSC2 | c.*3710C= (n.*3710C=) c.5208C= (p.Gly1736=) c.5358C= (p.Gly1786=) c.*5874C= (n.*5874C=) c.*8110C= (n.*8110C=) c.5361C= (p.Gly1787=) c.5292C= (p.Gly1764=) c.5160C= (p.Gly1720=) c.5193C= (p.Gly1731=) c.1584C= n.3243C= c.4015C= c.5220C= (p.Gly1740=) n.958C= c.5163C= (p.Gly1721=) c.5229C= (p.Gly1743=) c.5154C= (p.Gly1718=) n.3009C= c.5286C= (p.Gly1762=) c.5232C= (p.Gly1744=) c.5247C= (p.Gly1749=) c.5157C= (p.Gly1719=) c.5282C= n.3445C= c.5355C= (p.Gly1785=) n.4176C= n.2613C= n.2584C= n.2474C= c.5016C= (p.Gly1672=) c.*4528C= (n.*4528C=) c.5052C= (p.Gly1684=) n.3084C= c.1543C= n.2476C= c.5415C= (p.Gly1805=) c.5412C= (p.Gly1804=) c.5304C= (p.Gly1768=) c.5283C= (p.Gly1761=) c.4629C= (p.Gly1543=) c.5577C= (p.Gly1859=) c.5325C= (p.Gly1775=) c.4071C= (p.Gly1357=) | |
16 | g.2088547C>G | CA493043738 | TSC2 | c.*3710C>G (n.*3710C>G) c.5208C>G (p.Gly1736=) c.5358C>G (p.Gly1786=) c.*5874C>G (n.*5874C>G) c.*8110C>G (n.*8110C>G) c.5361C>G (p.Gly1787=) c.5292C>G (p.Gly1764=) c.5160C>G (p.Gly1720=) c.5193C>G (p.Gly1731=) c.1584C>G n.3243C>G c.4015C>G c.5220C>G (p.Gly1740=) n.958C>G c.5163C>G (p.Gly1721=) c.5229C>G (p.Gly1743=) c.5154C>G (p.Gly1718=) n.3009C>G c.5286C>G (p.Gly1762=) c.5232C>G (p.Gly1744=) c.5247C>G (p.Gly1749=) c.5157C>G (p.Gly1719=) c.5282C>G n.3445C>G c.5355C>G (p.Gly1785=) n.4176C>G n.2613C>G n.2584C>G n.2474C>G c.5016C>G (p.Gly1672=) c.*4528C>G (n.*4528C>G) c.5052C>G (p.Gly1684=) n.3084C>G c.1543C>G n.2476C>G c.5415C>G (p.Gly1805=) c.5412C>G (p.Gly1804=) c.5304C>G (p.Gly1768=) c.5283C>G (p.Gly1761=) c.4629C>G (p.Gly1543=) c.5577C>G (p.Gly1859=) c.5325C>G (p.Gly1775=) c.4071C>G (p.Gly1357=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088547C>T | CA493043739 | TSC2 | c.*3710C>T (n.*3710C>T) c.5208C>T (p.Gly1736=) c.5358C>T (p.Gly1786=) c.*5874C>T (n.*5874C>T) c.*8110C>T (n.*8110C>T) c.5361C>T (p.Gly1787=) c.5292C>T (p.Gly1764=) c.5160C>T (p.Gly1720=) c.5193C>T (p.Gly1731=) c.1584C>T n.3243C>T c.4015C>T c.5220C>T (p.Gly1740=) n.958C>T c.5163C>T (p.Gly1721=) c.5229C>T (p.Gly1743=) c.5154C>T (p.Gly1718=) n.3009C>T c.5286C>T (p.Gly1762=) c.5232C>T (p.Gly1744=) c.5247C>T (p.Gly1749=) c.5157C>T (p.Gly1719=) c.5282C>T n.3445C>T c.5355C>T (p.Gly1785=) n.4176C>T n.2613C>T n.2584C>T n.2474C>T c.5016C>T (p.Gly1672=) c.*4528C>T (n.*4528C>T) c.5052C>T (p.Gly1684=) n.3084C>T c.1543C>T n.2476C>T c.5415C>T (p.Gly1805=) c.5412C>T (p.Gly1804=) c.5304C>T (p.Gly1768=) c.5283C>T (p.Gly1761=) c.4629C>T (p.Gly1543=) c.5577C>T (p.Gly1859=) c.5325C>T (p.Gly1775=) c.4071C>T (p.Gly1357=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088547_2088563dup | CA2524666126 | TSC2 | c.*3710_*3726dup (n.*3710_*3726dup) c.5208_5224dup (p.Arg1742ProfsTer?) c.5358_5374dup (p.Arg1792ProfsTer?) c.*5874_*5890dup (n.*5874_*5890dup) c.*8110_*8126dup (n.*8110_*8126dup) c.5361_5377dup (p.Arg1793ProfsTer?) c.5292_5308dup (p.Arg1770ProfsTer?) c.5160_5176dup (p.Arg1726ProfsTer?) c.5193_5209dup (p.Arg1737ProfsTer?) c.1584_1600dup n.3243_3259dup c.4015_4031dup c.5220_5236dup (p.Arg1746ProfsTer?) n.958_974dup c.5163_5179dup (p.Arg1727ProfsTer?) c.5229_5245dup (p.Arg1749ProfsTer?) c.5154_5170dup (p.Arg1724ProfsTer?) n.3009_3025dup c.5286_5302dup (p.Arg1768ProfsTer?) c.5232_5248dup (p.Arg1750ProfsTer?) c.5247_5263dup (p.Arg1755ProfsTer?) c.5157_5173dup (p.Arg1725ProfsTer?) c.5282_5298dup n.3445_3461dup c.5355_5371dup (p.Arg1791ProfsTer?) n.4176_4192dup n.2613_2629dup n.2584_2600dup n.2474_2490dup c.5016_5032dup (p.Arg1678ProfsTer?) c.*4528_*4544dup (n.*4528_*4544dup) c.5052_5068dup (p.Arg1690ProfsTer?) n.3084_3100dup c.1543_1559dup n.2476_2492dup c.5415_5431dup (p.Arg1811ProfsTer?) c.5412_5428dup (p.Arg1810ProfsTer?) c.5304_5320dup (p.Arg1774ProfsTer?) c.5283_5299dup (p.Arg1767ProfsTer?) c.4629_4645dup (p.Arg1549ProfsTer?) c.5577_5593dup (p.Arg1865ProfsTer?) c.5325_5341dup (p.Arg1781ProfsTer?) c.4071_4087dup (p.Arg1363ProfsTer?) | |
16 | g.2088548T>A | CA394315821 | TSC2 | c.*3711T>A (n.*3711T>A) c.5209T>A (p.Tyr1737Asn) c.5359T>A (p.Tyr1787Asn) c.*5875T>A (n.*5875T>A) c.*8111T>A (n.*8111T>A) c.5362T>A (p.Tyr1788Asn) c.5293T>A (p.Tyr1765Asn) c.5161T>A (p.Tyr1721Asn) c.5194T>A (p.Tyr1732Asn) c.1585T>A n.3244T>A c.4016T>A c.5221T>A (p.Tyr1741Asn) n.959T>A c.5164T>A (p.Tyr1722Asn) c.5230T>A (p.Tyr1744Asn) c.5155T>A (p.Tyr1719Asn) n.3010T>A c.5287T>A (p.Tyr1763Asn) c.5233T>A (p.Tyr1745Asn) c.5248T>A (p.Tyr1750Asn) c.5158T>A (p.Tyr1720Asn) c.5283T>A n.3446T>A c.5356T>A (p.Tyr1786Asn) n.4177T>A n.2614T>A n.2585T>A n.2475T>A c.5017T>A (p.Tyr1673Asn) c.*4529T>A (n.*4529T>A) c.5053T>A (p.Tyr1685Asn) n.3085T>A c.1544T>A n.2477T>A c.5416T>A (p.Tyr1806Asn) c.5413T>A (p.Tyr1805Asn) c.5305T>A (p.Tyr1769Asn) c.5284T>A (p.Tyr1762Asn) c.4630T>A (p.Tyr1544Asn) c.5578T>A (p.Tyr1860Asn) c.5326T>A (p.Tyr1776Asn) c.4072T>A (p.Tyr1358Asn) | |
16 | g.2088548T>C | CA16615053 | TSC2 | c.*3711T>C (n.*3711T>C) c.5209T>C (p.Tyr1737His) c.5359T>C (p.Tyr1787His) c.*5875T>C (n.*5875T>C) c.*8111T>C (n.*8111T>C) c.5362T>C (p.Tyr1788His) c.5293T>C (p.Tyr1765His) c.5161T>C (p.Tyr1721His) c.5194T>C (p.Tyr1732His) c.1585T>C n.3244T>C c.4016T>C c.5221T>C (p.Tyr1741His) n.959T>C c.5164T>C (p.Tyr1722His) c.5230T>C (p.Tyr1744His) c.5155T>C (p.Tyr1719His) n.3010T>C c.5287T>C (p.Tyr1763His) c.5233T>C (p.Tyr1745His) c.5248T>C (p.Tyr1750His) c.5158T>C (p.Tyr1720His) c.5283T>C n.3446T>C c.5356T>C (p.Tyr1786His) n.4177T>C n.2614T>C n.2585T>C n.2475T>C c.5017T>C (p.Tyr1673His) c.*4529T>C (n.*4529T>C) c.5053T>C (p.Tyr1685His) n.3085T>C c.1544T>C n.2477T>C c.5416T>C (p.Tyr1806His) c.5413T>C (p.Tyr1805His) c.5305T>C (p.Tyr1769His) c.5284T>C (p.Tyr1762His) c.4630T>C (p.Tyr1544His) c.5578T>C (p.Tyr1860His) c.5326T>C (p.Tyr1776His) c.4072T>C (p.Tyr1358His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.2088548T>G | CA276760060 | TSC2 | c.*3711T>G (n.*3711T>G) c.5209T>G (p.Tyr1737Asp) c.5359T>G (p.Tyr1787Asp) c.*5875T>G (n.*5875T>G) c.*8111T>G (n.*8111T>G) c.5362T>G (p.Tyr1788Asp) c.5293T>G (p.Tyr1765Asp) c.5161T>G (p.Tyr1721Asp) c.5194T>G (p.Tyr1732Asp) c.1585T>G n.3244T>G c.4016T>G c.5221T>G (p.Tyr1741Asp) n.959T>G c.5164T>G (p.Tyr1722Asp) c.5230T>G (p.Tyr1744Asp) c.5155T>G (p.Tyr1719Asp) n.3010T>G c.5287T>G (p.Tyr1763Asp) c.5233T>G (p.Tyr1745Asp) c.5248T>G (p.Tyr1750Asp) c.5158T>G (p.Tyr1720Asp) c.5283T>G n.3446T>G c.5356T>G (p.Tyr1786Asp) n.4177T>G n.2614T>G n.2585T>G n.2475T>G c.5017T>G (p.Tyr1673Asp) c.*4529T>G (n.*4529T>G) c.5053T>G (p.Tyr1685Asp) n.3085T>G c.1544T>G n.2477T>G c.5416T>G (p.Tyr1806Asp) c.5413T>G (p.Tyr1805Asp) c.5305T>G (p.Tyr1769Asp) c.5284T>G (p.Tyr1762Asp) c.4630T>G (p.Tyr1544Asp) c.5578T>G (p.Tyr1860Asp) c.5326T>G (p.Tyr1776Asp) c.4072T>G (p.Tyr1358Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088548T= | CA2202034178 | TSC2 | c.*3711T= (n.*3711T=) c.5209T= (p.Tyr1737=) c.5359T= (p.Tyr1787=) c.*5875T= (n.*5875T=) c.*8111T= (n.*8111T=) c.5362T= (p.Tyr1788=) c.5293T= (p.Tyr1765=) c.5161T= (p.Tyr1721=) c.5194T= (p.Tyr1732=) c.1585T= n.3244T= c.4016T= c.5221T= (p.Tyr1741=) n.959T= c.5164T= (p.Tyr1722=) c.5230T= (p.Tyr1744=) c.5155T= (p.Tyr1719=) n.3010T= c.5287T= (p.Tyr1763=) c.5233T= (p.Tyr1745=) c.5248T= (p.Tyr1750=) c.5158T= (p.Tyr1720=) c.5283T= n.3446T= c.5356T= (p.Tyr1786=) n.4177T= n.2614T= n.2585T= n.2475T= c.5017T= (p.Tyr1673=) c.*4529T= (n.*4529T=) c.5053T= (p.Tyr1685=) n.3085T= c.1544T= n.2477T= c.5416T= (p.Tyr1806=) c.5413T= (p.Tyr1805=) c.5305T= (p.Tyr1769=) c.5284T= (p.Tyr1762=) c.4630T= (p.Tyr1544=) c.5578T= (p.Tyr1860=) c.5326T= (p.Tyr1776=) c.4072T= (p.Tyr1358=) | |
16 | g.2088549A= | CA2202034184 | TSC2 | c.*3712A= (n.*3712A=) c.5210A= (p.Tyr1737=) c.5360A= (p.Tyr1787=) c.*5876A= (n.*5876A=) c.*8112A= (n.*8112A=) c.5363A= (p.Tyr1788=) c.5294A= (p.Tyr1765=) c.5162A= (p.Tyr1721=) c.5195A= (p.Tyr1732=) c.1586A= n.3245A= c.4017A= c.5222A= (p.Tyr1741=) n.960A= c.5165A= (p.Tyr1722=) c.5231A= (p.Tyr1744=) c.5156A= (p.Tyr1719=) n.3011A= c.5288A= (p.Tyr1763=) c.5234A= (p.Tyr1745=) c.5249A= (p.Tyr1750=) c.5159A= (p.Tyr1720=) c.5284A= n.3447A= c.5357A= (p.Tyr1786=) n.4178A= n.2615A= n.2586A= n.2476A= c.5018A= (p.Tyr1673=) c.*4530A= (n.*4530A=) c.5054A= (p.Tyr1685=) n.3086A= c.1545A= n.2478A= c.5417A= (p.Tyr1806=) c.5414A= (p.Tyr1805=) c.5306A= (p.Tyr1769=) c.5285A= (p.Tyr1762=) c.4631A= (p.Tyr1544=) c.5579A= (p.Tyr1860=) c.5327A= (p.Tyr1776=) c.4073A= (p.Tyr1358=) | |
16 | g.2088549A>C | CA394315826 | TSC2 | c.*3712A>C (n.*3712A>C) c.5210A>C (p.Tyr1737Ser) c.5360A>C (p.Tyr1787Ser) c.*5876A>C (n.*5876A>C) c.*8112A>C (n.*8112A>C) c.5363A>C (p.Tyr1788Ser) c.5294A>C (p.Tyr1765Ser) c.5162A>C (p.Tyr1721Ser) c.5195A>C (p.Tyr1732Ser) c.1586A>C n.3245A>C c.4017A>C c.5222A>C (p.Tyr1741Ser) n.960A>C c.5165A>C (p.Tyr1722Ser) c.5231A>C (p.Tyr1744Ser) c.5156A>C (p.Tyr1719Ser) n.3011A>C c.5288A>C (p.Tyr1763Ser) c.5234A>C (p.Tyr1745Ser) c.5249A>C (p.Tyr1750Ser) c.5159A>C (p.Tyr1720Ser) c.5284A>C n.3447A>C c.5357A>C (p.Tyr1786Ser) n.4178A>C n.2615A>C n.2586A>C n.2476A>C c.5018A>C (p.Tyr1673Ser) c.*4530A>C (n.*4530A>C) c.5054A>C (p.Tyr1685Ser) n.3086A>C c.1545A>C n.2478A>C c.5417A>C (p.Tyr1806Ser) c.5414A>C (p.Tyr1805Ser) c.5306A>C (p.Tyr1769Ser) c.5285A>C (p.Tyr1762Ser) c.4631A>C (p.Tyr1544Ser) c.5579A>C (p.Tyr1860Ser) c.5327A>C (p.Tyr1776Ser) c.4073A>C (p.Tyr1358Ser) | ClinVar dbSNP |
16 | g.2088549A>G | CA055219 | TSC2 | c.*3712A>G (n.*3712A>G) c.5210A>G (p.Tyr1737Cys) c.5360A>G (p.Tyr1787Cys) c.*5876A>G (n.*5876A>G) c.*8112A>G (n.*8112A>G) c.5363A>G (p.Tyr1788Cys) c.5294A>G (p.Tyr1765Cys) c.5162A>G (p.Tyr1721Cys) c.5195A>G (p.Tyr1732Cys) c.1586A>G n.3245A>G c.4017A>G c.5222A>G (p.Tyr1741Cys) n.960A>G c.5165A>G (p.Tyr1722Cys) c.5231A>G (p.Tyr1744Cys) c.5156A>G (p.Tyr1719Cys) n.3011A>G c.5288A>G (p.Tyr1763Cys) c.5234A>G (p.Tyr1745Cys) c.5249A>G (p.Tyr1750Cys) c.5159A>G (p.Tyr1720Cys) c.5284A>G n.3447A>G c.5357A>G (p.Tyr1786Cys) n.4178A>G n.2615A>G n.2586A>G n.2476A>G c.5018A>G (p.Tyr1673Cys) c.*4530A>G (n.*4530A>G) c.5054A>G (p.Tyr1685Cys) n.3086A>G c.1545A>G n.2478A>G c.5417A>G (p.Tyr1806Cys) c.5414A>G (p.Tyr1805Cys) c.5306A>G (p.Tyr1769Cys) c.5285A>G (p.Tyr1762Cys) c.4631A>G (p.Tyr1544Cys) c.5579A>G (p.Tyr1860Cys) c.5327A>G (p.Tyr1776Cys) c.4073A>G (p.Tyr1358Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088549A>T | CA022414 | TSC2 | c.*3712A>T (n.*3712A>T) c.5210A>T (p.Tyr1737Phe) c.5360A>T (p.Tyr1787Phe) c.*5876A>T (n.*5876A>T) c.*8112A>T (n.*8112A>T) c.5363A>T (p.Tyr1788Phe) c.5294A>T (p.Tyr1765Phe) c.5162A>T (p.Tyr1721Phe) c.5195A>T (p.Tyr1732Phe) c.1586A>T n.3245A>T c.4017A>T c.5222A>T (p.Tyr1741Phe) n.960A>T c.5165A>T (p.Tyr1722Phe) c.5231A>T (p.Tyr1744Phe) c.5156A>T (p.Tyr1719Phe) n.3011A>T c.5288A>T (p.Tyr1763Phe) c.5234A>T (p.Tyr1745Phe) c.5249A>T (p.Tyr1750Phe) c.5159A>T (p.Tyr1720Phe) c.5284A>T n.3447A>T c.5357A>T (p.Tyr1786Phe) n.4178A>T n.2615A>T n.2586A>T n.2476A>T c.5018A>T (p.Tyr1673Phe) c.*4530A>T (n.*4530A>T) c.5054A>T (p.Tyr1685Phe) n.3086A>T c.1545A>T n.2478A>T c.5417A>T (p.Tyr1806Phe) c.5414A>T (p.Tyr1805Phe) c.5306A>T (p.Tyr1769Phe) c.5285A>T (p.Tyr1762Phe) c.4631A>T (p.Tyr1544Phe) c.5579A>T (p.Tyr1860Phe) c.5327A>T (p.Tyr1776Phe) c.4073A>T (p.Tyr1358Phe) | ClinVar dbSNP |
16 | g.2088550T>A | CA394315845 | TSC2 | c.*3713T>A (n.*3713T>A) c.5211T>A (p.Tyr1737Ter) c.5361T>A (p.Tyr1787Ter) c.*5877T>A (n.*5877T>A) c.*8113T>A (n.*8113T>A) c.5364T>A (p.Tyr1788Ter) c.5295T>A (p.Tyr1765Ter) c.5163T>A (p.Tyr1721Ter) c.5196T>A (p.Tyr1732Ter) c.1587T>A n.3246T>A c.4018T>A c.5223T>A (p.Tyr1741Ter) n.961T>A c.5166T>A (p.Tyr1722Ter) c.5232T>A (p.Tyr1744Ter) c.5157T>A (p.Tyr1719Ter) n.3012T>A c.5289T>A (p.Tyr1763Ter) c.5235T>A (p.Tyr1745Ter) c.5250T>A (p.Tyr1750Ter) c.5160T>A (p.Tyr1720Ter) c.5285T>A n.3448T>A c.5358T>A (p.Tyr1786Ter) n.4179T>A n.2616T>A n.2587T>A n.2477T>A c.5019T>A (p.Tyr1673Ter) c.*4531T>A (n.*4531T>A) c.5055T>A (p.Tyr1685Ter) n.3087T>A c.1546T>A n.2479T>A c.5418T>A (p.Tyr1806Ter) c.5415T>A (p.Tyr1805Ter) c.5307T>A (p.Tyr1769Ter) c.5286T>A (p.Tyr1762Ter) c.4632T>A (p.Tyr1544Ter) c.5580T>A (p.Tyr1860Ter) c.5328T>A (p.Tyr1776Ter) c.4074T>A (p.Tyr1358Ter) | ClinVar |
16 | g.2088550T>C | CA055226 | TSC2 | c.*3713T>C (n.*3713T>C) c.5211T>C (p.Tyr1737=) c.5361T>C (p.Tyr1787=) c.*5877T>C (n.*5877T>C) c.*8113T>C (n.*8113T>C) c.5364T>C (p.Tyr1788=) c.5295T>C (p.Tyr1765=) c.5163T>C (p.Tyr1721=) c.5196T>C (p.Tyr1732=) c.1587T>C n.3246T>C c.4018T>C c.5223T>C (p.Tyr1741=) n.961T>C c.5166T>C (p.Tyr1722=) c.5232T>C (p.Tyr1744=) c.5157T>C (p.Tyr1719=) n.3012T>C c.5289T>C (p.Tyr1763=) c.5235T>C (p.Tyr1745=) c.5250T>C (p.Tyr1750=) c.5160T>C (p.Tyr1720=) c.5285T>C n.3448T>C c.5358T>C (p.Tyr1786=) n.4179T>C n.2616T>C n.2587T>C n.2477T>C c.5019T>C (p.Tyr1673=) c.*4531T>C (n.*4531T>C) c.5055T>C (p.Tyr1685=) n.3087T>C c.1546T>C n.2479T>C c.5418T>C (p.Tyr1806=) c.5415T>C (p.Tyr1805=) c.5307T>C (p.Tyr1769=) c.5286T>C (p.Tyr1762=) c.4632T>C (p.Tyr1544=) c.5580T>C (p.Tyr1860=) c.5328T>C (p.Tyr1776=) c.4074T>C (p.Tyr1358=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088550T>G | CA394315850 | TSC2 | c.*3713T>G (n.*3713T>G) c.5211T>G (p.Tyr1737Ter) c.5361T>G (p.Tyr1787Ter) c.*5877T>G (n.*5877T>G) c.*8113T>G (n.*8113T>G) c.5364T>G (p.Tyr1788Ter) c.5295T>G (p.Tyr1765Ter) c.5163T>G (p.Tyr1721Ter) c.5196T>G (p.Tyr1732Ter) c.1587T>G n.3246T>G c.4018T>G c.5223T>G (p.Tyr1741Ter) n.961T>G c.5166T>G (p.Tyr1722Ter) c.5232T>G (p.Tyr1744Ter) c.5157T>G (p.Tyr1719Ter) n.3012T>G c.5289T>G (p.Tyr1763Ter) c.5235T>G (p.Tyr1745Ter) c.5250T>G (p.Tyr1750Ter) c.5160T>G (p.Tyr1720Ter) c.5285T>G n.3448T>G c.5358T>G (p.Tyr1786Ter) n.4179T>G n.2616T>G n.2587T>G n.2477T>G c.5019T>G (p.Tyr1673Ter) c.*4531T>G (n.*4531T>G) c.5055T>G (p.Tyr1685Ter) n.3087T>G c.1546T>G n.2479T>G c.5418T>G (p.Tyr1806Ter) c.5415T>G (p.Tyr1805Ter) c.5307T>G (p.Tyr1769Ter) c.5286T>G (p.Tyr1762Ter) c.4632T>G (p.Tyr1544Ter) c.5580T>G (p.Tyr1860Ter) c.5328T>G (p.Tyr1776Ter) c.4074T>G (p.Tyr1358Ter) | ClinVar dbSNP |
16 | g.2088550T= | CA2202034201 | TSC2 | c.*3713T= (n.*3713T=) c.5211T= (p.Tyr1737=) c.5361T= (p.Tyr1787=) c.*5877T= (n.*5877T=) c.*8113T= (n.*8113T=) c.5364T= (p.Tyr1788=) c.5295T= (p.Tyr1765=) c.5163T= (p.Tyr1721=) c.5196T= (p.Tyr1732=) c.1587T= n.3246T= c.4018T= c.5223T= (p.Tyr1741=) n.961T= c.5166T= (p.Tyr1722=) c.5232T= (p.Tyr1744=) c.5157T= (p.Tyr1719=) n.3012T= c.5289T= (p.Tyr1763=) c.5235T= (p.Tyr1745=) c.5250T= (p.Tyr1750=) c.5160T= (p.Tyr1720=) c.5285T= n.3448T= c.5358T= (p.Tyr1786=) n.4179T= n.2616T= n.2587T= n.2477T= c.5019T= (p.Tyr1673=) c.*4531T= (n.*4531T=) c.5055T= (p.Tyr1685=) n.3087T= c.1546T= n.2479T= c.5418T= (p.Tyr1806=) c.5415T= (p.Tyr1805=) c.5307T= (p.Tyr1769=) c.5286T= (p.Tyr1762=) c.4632T= (p.Tyr1544=) c.5580T= (p.Tyr1860=) c.5328T= (p.Tyr1776=) c.4074T= (p.Tyr1358=) | |
16 | g.2088551G>A | CA394315853 | TSC2 | c.*3714G>A (n.*3714G>A) c.5212G>A (p.Glu1738Lys) c.5362G>A (p.Glu1788Lys) c.*5878G>A (n.*5878G>A) c.*8114G>A (n.*8114G>A) c.5365G>A (p.Glu1789Lys) c.5296G>A (p.Glu1766Lys) c.5164G>A (p.Glu1722Lys) c.5197G>A (p.Glu1733Lys) c.1588G>A n.3247G>A c.4019G>A c.5224G>A (p.Glu1742Lys) n.962G>A c.5167G>A (p.Glu1723Lys) c.5233G>A (p.Glu1745Lys) c.5158G>A (p.Glu1720Lys) n.3013G>A c.5290G>A (p.Glu1764Lys) c.5236G>A (p.Glu1746Lys) c.5251G>A (p.Glu1751Lys) c.5161G>A (p.Glu1721Lys) c.5286G>A n.3449G>A c.5359G>A (p.Glu1787Lys) n.4180G>A n.2617G>A n.2588G>A n.2478G>A c.5020G>A (p.Glu1674Lys) c.*4532G>A (n.*4532G>A) c.5056G>A (p.Glu1686Lys) n.3088G>A c.1547G>A n.2480G>A c.5419G>A (p.Glu1807Lys) c.5416G>A (p.Glu1806Lys) c.5308G>A (p.Glu1770Lys) c.5287G>A (p.Glu1763Lys) c.4633G>A (p.Glu1545Lys) c.5581G>A (p.Glu1861Lys) c.5329G>A (p.Glu1777Lys) c.4075G>A (p.Glu1359Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088551G>C | CA022419 | TSC2 | c.*3714G>C (n.*3714G>C) c.5212G>C (p.Glu1738Gln) c.5362G>C (p.Glu1788Gln) c.*5878G>C (n.*5878G>C) c.*8114G>C (n.*8114G>C) c.5365G>C (p.Glu1789Gln) c.5296G>C (p.Glu1766Gln) c.5164G>C (p.Glu1722Gln) c.5197G>C (p.Glu1733Gln) c.1588G>C n.3247G>C c.4019G>C c.5224G>C (p.Glu1742Gln) n.962G>C c.5167G>C (p.Glu1723Gln) c.5233G>C (p.Glu1745Gln) c.5158G>C (p.Glu1720Gln) n.3013G>C c.5290G>C (p.Glu1764Gln) c.5236G>C (p.Glu1746Gln) c.5251G>C (p.Glu1751Gln) c.5161G>C (p.Glu1721Gln) c.5286G>C n.3449G>C c.5359G>C (p.Glu1787Gln) n.4180G>C n.2617G>C n.2588G>C n.2478G>C c.5020G>C (p.Glu1674Gln) c.*4532G>C (n.*4532G>C) c.5056G>C (p.Glu1686Gln) n.3088G>C c.1547G>C n.2480G>C c.5419G>C (p.Glu1807Gln) c.5416G>C (p.Glu1806Gln) c.5308G>C (p.Glu1770Gln) c.5287G>C (p.Glu1763Gln) c.4633G>C (p.Glu1545Gln) c.5581G>C (p.Glu1861Gln) c.5329G>C (p.Glu1777Gln) c.4075G>C (p.Glu1359Gln) | ClinVar dbSNP |
16 | g.2088551G= | CA2202034207 | TSC2 | c.*3714G= (n.*3714G=) c.5212G= (p.Glu1738=) c.5362G= (p.Glu1788=) c.*5878G= (n.*5878G=) c.*8114G= (n.*8114G=) c.5365G= (p.Glu1789=) c.5296G= (p.Glu1766=) c.5164G= (p.Glu1722=) c.5197G= (p.Glu1733=) c.1588G= n.3247G= c.4019G= c.5224G= (p.Glu1742=) n.962G= c.5167G= (p.Glu1723=) c.5233G= (p.Glu1745=) c.5158G= (p.Glu1720=) n.3013G= c.5290G= (p.Glu1764=) c.5236G= (p.Glu1746=) c.5251G= (p.Glu1751=) c.5161G= (p.Glu1721=) c.5286G= n.3449G= c.5359G= (p.Glu1787=) n.4180G= n.2617G= n.2588G= n.2478G= c.5020G= (p.Glu1674=) c.*4532G= (n.*4532G=) c.5056G= (p.Glu1686=) n.3088G= c.1547G= n.2480G= c.5419G= (p.Glu1807=) c.5416G= (p.Glu1806=) c.5308G= (p.Glu1770=) c.5287G= (p.Glu1763=) c.4633G= (p.Glu1545=) c.5581G= (p.Glu1861=) c.5329G= (p.Glu1777=) c.4075G= (p.Glu1359=) | |
16 | g.2088551G>T | CA394315865 | TSC2 | c.*3714G>T (n.*3714G>T) c.5212G>T (p.Glu1738Ter) c.5362G>T (p.Glu1788Ter) c.*5878G>T (n.*5878G>T) c.*8114G>T (n.*8114G>T) c.5365G>T (p.Glu1789Ter) c.5296G>T (p.Glu1766Ter) c.5164G>T (p.Glu1722Ter) c.5197G>T (p.Glu1733Ter) c.1588G>T n.3247G>T c.4019G>T c.5224G>T (p.Glu1742Ter) n.962G>T c.5167G>T (p.Glu1723Ter) c.5233G>T (p.Glu1745Ter) c.5158G>T (p.Glu1720Ter) n.3013G>T c.5290G>T (p.Glu1764Ter) c.5236G>T (p.Glu1746Ter) c.5251G>T (p.Glu1751Ter) c.5161G>T (p.Glu1721Ter) c.5286G>T n.3449G>T c.5359G>T (p.Glu1787Ter) n.4180G>T n.2617G>T n.2588G>T n.2478G>T c.5020G>T (p.Glu1674Ter) c.*4532G>T (n.*4532G>T) c.5056G>T (p.Glu1686Ter) n.3088G>T c.1547G>T n.2480G>T c.5419G>T (p.Glu1807Ter) c.5416G>T (p.Glu1806Ter) c.5308G>T (p.Glu1770Ter) c.5287G>T (p.Glu1763Ter) c.4633G>T (p.Glu1545Ter) c.5581G>T (p.Glu1861Ter) c.5329G>T (p.Glu1777Ter) c.4075G>T (p.Glu1359Ter) | |
16 | g.2088552_2088554del | CA2573151991 | TSC2 | c.*3715_*3717del (n.*3715_*3717del) c.5213_5215del (p.Glu1738del) c.5363_5365del (p.Glu1788del) c.*5879_*5881del (n.*5879_*5881del) c.*8115_*8117del (n.*8115_*8117del) c.5366_5368del (p.Glu1789del) c.5297_5299del (p.Glu1766del) c.5165_5167del (p.Glu1722del) c.5198_5200del (p.Glu1733del) c.1589_1591del n.3248_3250del c.4020_4022del c.5225_5227del (p.Glu1742del) n.963_965del c.5168_5170del (p.Glu1723del) c.5234_5236del (p.Glu1745del) c.5159_5161del (p.Glu1720del) n.3014_3016del c.5291_5293del (p.Glu1764del) c.5237_5239del (p.Glu1746del) c.5252_5254del (p.Glu1751del) c.5162_5164del (p.Glu1721del) c.5287_5289del n.3450_3452del c.5360_5362del (p.Glu1787del) n.4181_4183del n.2618_2620del n.2589_2591del n.2479_2481del c.5021_5023del (p.Glu1674del) c.*4533_*4535del (n.*4533_*4535del) c.5057_5059del (p.Glu1686del) n.3089_3091del c.1548_1550del n.2481_2483del c.5420_5422del (p.Glu1807del) c.5417_5419del (p.Glu1806del) c.5309_5311del (p.Glu1770del) c.5288_5290del (p.Glu1763del) c.4634_4636del (p.Glu1545del) c.5582_5584del (p.Glu1861del) c.5330_5332del (p.Glu1777del) c.4076_4078del (p.Glu1359del) | ClinVar dbSNP |
16 | g.2088552A>C | CA394315877 | TSC2 | c.*3715A>C (n.*3715A>C) c.5213A>C (p.Glu1738Ala) c.5363A>C (p.Glu1788Ala) c.*5879A>C (n.*5879A>C) c.*8115A>C (n.*8115A>C) c.5366A>C (p.Glu1789Ala) c.5297A>C (p.Glu1766Ala) c.5165A>C (p.Glu1722Ala) c.5198A>C (p.Glu1733Ala) c.1589A>C n.3248A>C c.4020A>C c.5225A>C (p.Glu1742Ala) n.963A>C c.5168A>C (p.Glu1723Ala) c.5234A>C (p.Glu1745Ala) c.5159A>C (p.Glu1720Ala) n.3014A>C c.5291A>C (p.Glu1764Ala) c.5237A>C (p.Glu1746Ala) c.5252A>C (p.Glu1751Ala) c.5162A>C (p.Glu1721Ala) c.5287A>C n.3450A>C c.5360A>C (p.Glu1787Ala) n.4181A>C n.2618A>C n.2589A>C n.2479A>C c.5021A>C (p.Glu1674Ala) c.*4533A>C (n.*4533A>C) c.5057A>C (p.Glu1686Ala) n.3089A>C c.1548A>C n.2481A>C c.5420A>C (p.Glu1807Ala) c.5417A>C (p.Glu1806Ala) c.5309A>C (p.Glu1770Ala) c.5288A>C (p.Glu1763Ala) c.4634A>C (p.Glu1545Ala) c.5582A>C (p.Glu1861Ala) c.5330A>C (p.Glu1777Ala) c.4076A>C (p.Glu1359Ala) | |
16 | g.2088552A>G | CA394315867 | TSC2 | c.*3715A>G (n.*3715A>G) c.5213A>G (p.Glu1738Gly) c.5363A>G (p.Glu1788Gly) c.*5879A>G (n.*5879A>G) c.*8115A>G (n.*8115A>G) c.5366A>G (p.Glu1789Gly) c.5297A>G (p.Glu1766Gly) c.5165A>G (p.Glu1722Gly) c.5198A>G (p.Glu1733Gly) c.1589A>G n.3248A>G c.4020A>G c.5225A>G (p.Glu1742Gly) n.963A>G c.5168A>G (p.Glu1723Gly) c.5234A>G (p.Glu1745Gly) c.5159A>G (p.Glu1720Gly) n.3014A>G c.5291A>G (p.Glu1764Gly) c.5237A>G (p.Glu1746Gly) c.5252A>G (p.Glu1751Gly) c.5162A>G (p.Glu1721Gly) c.5287A>G n.3450A>G c.5360A>G (p.Glu1787Gly) n.4181A>G n.2618A>G n.2589A>G n.2479A>G c.5021A>G (p.Glu1674Gly) c.*4533A>G (n.*4533A>G) c.5057A>G (p.Glu1686Gly) n.3089A>G c.1548A>G n.2481A>G c.5420A>G (p.Glu1807Gly) c.5417A>G (p.Glu1806Gly) c.5309A>G (p.Glu1770Gly) c.5288A>G (p.Glu1763Gly) c.4634A>G (p.Glu1545Gly) c.5582A>G (p.Glu1861Gly) c.5330A>G (p.Glu1777Gly) c.4076A>G (p.Glu1359Gly) | |
16 | g.2088552A>T | CA394315869 | TSC2 | c.*3715A>T (n.*3715A>T) c.5213A>T (p.Glu1738Val) c.5363A>T (p.Glu1788Val) c.*5879A>T (n.*5879A>T) c.*8115A>T (n.*8115A>T) c.5366A>T (p.Glu1789Val) c.5297A>T (p.Glu1766Val) c.5165A>T (p.Glu1722Val) c.5198A>T (p.Glu1733Val) c.1589A>T n.3248A>T c.4020A>T c.5225A>T (p.Glu1742Val) n.963A>T c.5168A>T (p.Glu1723Val) c.5234A>T (p.Glu1745Val) c.5159A>T (p.Glu1720Val) n.3014A>T c.5291A>T (p.Glu1764Val) c.5237A>T (p.Glu1746Val) c.5252A>T (p.Glu1751Val) c.5162A>T (p.Glu1721Val) c.5287A>T n.3450A>T c.5360A>T (p.Glu1787Val) n.4181A>T n.2618A>T n.2589A>T n.2479A>T c.5021A>T (p.Glu1674Val) c.*4533A>T (n.*4533A>T) c.5057A>T (p.Glu1686Val) n.3089A>T c.1548A>T n.2481A>T c.5420A>T (p.Glu1807Val) c.5417A>T (p.Glu1806Val) c.5309A>T (p.Glu1770Val) c.5288A>T (p.Glu1763Val) c.4634A>T (p.Glu1545Val) c.5582A>T (p.Glu1861Val) c.5330A>T (p.Glu1777Val) c.4076A>T (p.Glu1359Val) | |
16 | g.2088553G>A | CA276760093 | TSC2 | c.*3716G>A (n.*3716G>A) c.5214G>A (p.Glu1738=) c.5364G>A (p.Glu1788=) c.*5880G>A (n.*5880G>A) c.*8116G>A (n.*8116G>A) c.5367G>A (p.Glu1789=) c.5298G>A (p.Glu1766=) c.5166G>A (p.Glu1722=) c.5199G>A (p.Glu1733=) c.1590G>A n.3249G>A c.4021G>A c.5226G>A (p.Glu1742=) n.964G>A c.5169G>A (p.Glu1723=) c.5235G>A (p.Glu1745=) c.5160G>A (p.Glu1720=) n.3015G>A c.5292G>A (p.Glu1764=) c.5238G>A (p.Glu1746=) c.5253G>A (p.Glu1751=) c.5163G>A (p.Glu1721=) c.5288G>A n.3451G>A c.5361G>A (p.Glu1787=) n.4182G>A n.2619G>A n.2590G>A n.2480G>A c.5022G>A (p.Glu1674=) c.*4534G>A (n.*4534G>A) c.5058G>A (p.Glu1686=) n.3090G>A c.1549G>A n.2482G>A c.5421G>A (p.Glu1807=) c.5418G>A (p.Glu1806=) c.5310G>A (p.Glu1770=) c.5289G>A (p.Glu1763=) c.4635G>A (p.Glu1545=) c.5583G>A (p.Glu1861=) c.5331G>A (p.Glu1777=) c.4077G>A (p.Glu1359=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.2088553G>C | CA394315884 | TSC2 | c.*3716G>C (n.*3716G>C) c.5214G>C (p.Glu1738Asp) c.5364G>C (p.Glu1788Asp) c.*5880G>C (n.*5880G>C) c.*8116G>C (n.*8116G>C) c.5367G>C (p.Glu1789Asp) c.5298G>C (p.Glu1766Asp) c.5166G>C (p.Glu1722Asp) c.5199G>C (p.Glu1733Asp) c.1590G>C n.3249G>C c.4021G>C c.5226G>C (p.Glu1742Asp) n.964G>C c.5169G>C (p.Glu1723Asp) c.5235G>C (p.Glu1745Asp) c.5160G>C (p.Glu1720Asp) n.3015G>C c.5292G>C (p.Glu1764Asp) c.5238G>C (p.Glu1746Asp) c.5253G>C (p.Glu1751Asp) c.5163G>C (p.Glu1721Asp) c.5288G>C n.3451G>C c.5361G>C (p.Glu1787Asp) n.4182G>C n.2619G>C n.2590G>C n.2480G>C c.5022G>C (p.Glu1674Asp) c.*4534G>C (n.*4534G>C) c.5058G>C (p.Glu1686Asp) n.3090G>C c.1549G>C n.2482G>C c.5421G>C (p.Glu1807Asp) c.5418G>C (p.Glu1806Asp) c.5310G>C (p.Glu1770Asp) c.5289G>C (p.Glu1763Asp) c.4635G>C (p.Glu1545Asp) c.5583G>C (p.Glu1861Asp) c.5331G>C (p.Glu1777Asp) c.4077G>C (p.Glu1359Asp) | ClinVar dbSNP gnomAD v4 |
16 | g.2088553G= | CA2202034213 | TSC2 | c.*3716G= (n.*3716G=) c.5214G= (p.Glu1738=) c.5364G= (p.Glu1788=) c.*5880G= (n.*5880G=) c.*8116G= (n.*8116G=) c.5367G= (p.Glu1789=) c.5298G= (p.Glu1766=) c.5166G= (p.Glu1722=) c.5199G= (p.Glu1733=) c.1590G= n.3249G= c.4021G= c.5226G= (p.Glu1742=) n.964G= c.5169G= (p.Glu1723=) c.5235G= (p.Glu1745=) c.5160G= (p.Glu1720=) n.3015G= c.5292G= (p.Glu1764=) c.5238G= (p.Glu1746=) c.5253G= (p.Glu1751=) c.5163G= (p.Glu1721=) c.5288G= n.3451G= c.5361G= (p.Glu1787=) n.4182G= n.2619G= n.2590G= n.2480G= c.5022G= (p.Glu1674=) c.*4534G= (n.*4534G=) c.5058G= (p.Glu1686=) n.3090G= c.1549G= n.2482G= c.5421G= (p.Glu1807=) c.5418G= (p.Glu1806=) c.5310G= (p.Glu1770=) c.5289G= (p.Glu1763=) c.4635G= (p.Glu1545=) c.5583G= (p.Glu1861=) c.5331G= (p.Glu1777=) c.4077G= (p.Glu1359=) | |
16 | g.2088553G>T | CA394315894 | TSC2 | c.*3716G>T (n.*3716G>T) c.5214G>T (p.Glu1738Asp) c.5364G>T (p.Glu1788Asp) c.*5880G>T (n.*5880G>T) c.*8116G>T (n.*8116G>T) c.5367G>T (p.Glu1789Asp) c.5298G>T (p.Glu1766Asp) c.5166G>T (p.Glu1722Asp) c.5199G>T (p.Glu1733Asp) c.1590G>T n.3249G>T c.4021G>T c.5226G>T (p.Glu1742Asp) n.964G>T c.5169G>T (p.Glu1723Asp) c.5235G>T (p.Glu1745Asp) c.5160G>T (p.Glu1720Asp) n.3015G>T c.5292G>T (p.Glu1764Asp) c.5238G>T (p.Glu1746Asp) c.5253G>T (p.Glu1751Asp) c.5163G>T (p.Glu1721Asp) c.5288G>T n.3451G>T c.5361G>T (p.Glu1787Asp) n.4182G>T n.2619G>T n.2590G>T n.2480G>T c.5022G>T (p.Glu1674Asp) c.*4534G>T (n.*4534G>T) c.5058G>T (p.Glu1686Asp) n.3090G>T c.1549G>T n.2482G>T c.5421G>T (p.Glu1807Asp) c.5418G>T (p.Glu1806Asp) c.5310G>T (p.Glu1770Asp) c.5289G>T (p.Glu1763Asp) c.4635G>T (p.Glu1545Asp) c.5583G>T (p.Glu1861Asp) c.5331G>T (p.Glu1777Asp) c.4077G>T (p.Glu1359Asp) | |
16 | g.2088554G>A | CA022424 | TSC2 | c.*3717G>A (n.*3717G>A) c.5215G>A (p.Val1739Met) c.5365G>A (p.Val1789Met) c.*5881G>A (n.*5881G>A) c.*8117G>A (n.*8117G>A) c.5368G>A (p.Val1790Met) c.5299G>A (p.Val1767Met) c.5167G>A (p.Val1723Met) c.5200G>A (p.Val1734Met) c.1591G>A n.3250G>A c.4022G>A c.5227G>A (p.Val1743Met) n.965G>A c.5170G>A (p.Val1724Met) c.5236G>A (p.Val1746Met) c.5161G>A (p.Val1721Met) n.3016G>A c.5293G>A (p.Val1765Met) c.5239G>A (p.Val1747Met) c.5254G>A (p.Val1752Met) c.5164G>A (p.Val1722Met) c.5289G>A n.3452G>A c.5362G>A (p.Val1788Met) n.4183G>A n.2620G>A n.2591G>A n.2481G>A c.5023G>A (p.Val1675Met) c.*4535G>A (n.*4535G>A) c.5059G>A (p.Val1687Met) n.3091G>A c.1550G>A n.2483G>A c.5422G>A (p.Val1808Met) c.5419G>A (p.Val1807Met) c.5311G>A (p.Val1771Met) c.5290G>A (p.Val1764Met) c.4636G>A (p.Val1546Met) c.5584G>A (p.Val1862Met) c.5332G>A (p.Val1778Met) c.4078G>A (p.Val1360Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
16 | g.2088554G>C | CA394315911 | TSC2 | c.*3717G>C (n.*3717G>C) c.5215G>C (p.Val1739Leu) c.5365G>C (p.Val1789Leu) c.*5881G>C (n.*5881G>C) c.*8117G>C (n.*8117G>C) c.5368G>C (p.Val1790Leu) c.5299G>C (p.Val1767Leu) c.5167G>C (p.Val1723Leu) c.5200G>C (p.Val1734Leu) c.1591G>C n.3250G>C c.4022G>C c.5227G>C (p.Val1743Leu) n.965G>C c.5170G>C (p.Val1724Leu) c.5236G>C (p.Val1746Leu) c.5161G>C (p.Val1721Leu) n.3016G>C c.5293G>C (p.Val1765Leu) c.5239G>C (p.Val1747Leu) c.5254G>C (p.Val1752Leu) c.5164G>C (p.Val1722Leu) c.5289G>C n.3452G>C c.5362G>C (p.Val1788Leu) n.4183G>C n.2620G>C n.2591G>C n.2481G>C c.5023G>C (p.Val1675Leu) c.*4535G>C (n.*4535G>C) c.5059G>C (p.Val1687Leu) n.3091G>C c.1550G>C n.2483G>C c.5422G>C (p.Val1808Leu) c.5419G>C (p.Val1807Leu) c.5311G>C (p.Val1771Leu) c.5290G>C (p.Val1764Leu) c.4636G>C (p.Val1546Leu) c.5584G>C (p.Val1862Leu) c.5332G>C (p.Val1778Leu) c.4078G>C (p.Val1360Leu) | |
16 | g.2088554G= | CA2202034228 | TSC2 | c.*3717G= (n.*3717G=) c.5215G= (p.Val1739=) c.5365G= (p.Val1789=) c.*5881G= (n.*5881G=) c.*8117G= (n.*8117G=) c.5368G= (p.Val1790=) c.5299G= (p.Val1767=) c.5167G= (p.Val1723=) c.5200G= (p.Val1734=) c.1591G= n.3250G= c.4022G= c.5227G= (p.Val1743=) n.965G= c.5170G= (p.Val1724=) c.5236G= (p.Val1746=) c.5161G= (p.Val1721=) n.3016G= c.5293G= (p.Val1765=) c.5239G= (p.Val1747=) c.5254G= (p.Val1752=) c.5164G= (p.Val1722=) c.5289G= n.3452G= c.5362G= (p.Val1788=) n.4183G= n.2620G= n.2591G= n.2481G= c.5023G= (p.Val1675=) c.*4535G= (n.*4535G=) c.5059G= (p.Val1687=) n.3091G= c.1550G= n.2483G= c.5422G= (p.Val1808=) c.5419G= (p.Val1807=) c.5311G= (p.Val1771=) c.5290G= (p.Val1764=) c.4636G= (p.Val1546=) c.5584G= (p.Val1862=) c.5332G= (p.Val1778=) c.4078G= (p.Val1360=) | |
16 | g.2088554G>T | CA394315912 | TSC2 | c.*3717G>T (n.*3717G>T) c.5215G>T (p.Val1739Leu) c.5365G>T (p.Val1789Leu) c.*5881G>T (n.*5881G>T) c.*8117G>T (n.*8117G>T) c.5368G>T (p.Val1790Leu) c.5299G>T (p.Val1767Leu) c.5167G>T (p.Val1723Leu) c.5200G>T (p.Val1734Leu) c.1591G>T n.3250G>T c.4022G>T c.5227G>T (p.Val1743Leu) n.965G>T c.5170G>T (p.Val1724Leu) c.5236G>T (p.Val1746Leu) c.5161G>T (p.Val1721Leu) n.3016G>T c.5293G>T (p.Val1765Leu) c.5239G>T (p.Val1747Leu) c.5254G>T (p.Val1752Leu) c.5164G>T (p.Val1722Leu) c.5289G>T n.3452G>T c.5362G>T (p.Val1788Leu) n.4183G>T n.2620G>T n.2591G>T n.2481G>T c.5023G>T (p.Val1675Leu) c.*4535G>T (n.*4535G>T) c.5059G>T (p.Val1687Leu) n.3091G>T c.1550G>T n.2483G>T c.5422G>T (p.Val1808Leu) c.5419G>T (p.Val1807Leu) c.5311G>T (p.Val1771Leu) c.5290G>T (p.Val1764Leu) c.4636G>T (p.Val1546Leu) c.5584G>T (p.Val1862Leu) c.5332G>T (p.Val1778Leu) c.4078G>T (p.Val1360Leu) | |
16 | g.2088555T>A | CA394315914 | TSC2 | c.*3718T>A (n.*3718T>A) c.5216T>A (p.Val1739Glu) c.5366T>A (p.Val1789Glu) c.*5882T>A (n.*5882T>A) c.*8118T>A (n.*8118T>A) c.5369T>A (p.Val1790Glu) c.5300T>A (p.Val1767Glu) c.5168T>A (p.Val1723Glu) c.5201T>A (p.Val1734Glu) c.1592T>A n.3251T>A c.4023T>A c.5228T>A (p.Val1743Glu) n.966T>A c.5171T>A (p.Val1724Glu) c.5237T>A (p.Val1746Glu) c.5162T>A (p.Val1721Glu) n.3017T>A c.5294T>A (p.Val1765Glu) c.5240T>A (p.Val1747Glu) c.5255T>A (p.Val1752Glu) c.5165T>A (p.Val1722Glu) c.5290T>A n.3453T>A c.5363T>A (p.Val1788Glu) n.4184T>A n.2621T>A n.2592T>A n.2482T>A c.5024T>A (p.Val1675Glu) c.*4536T>A (n.*4536T>A) c.5060T>A (p.Val1687Glu) n.3092T>A c.1551T>A n.2484T>A c.5423T>A (p.Val1808Glu) c.5420T>A (p.Val1807Glu) c.5312T>A (p.Val1771Glu) c.5291T>A (p.Val1764Glu) c.4637T>A (p.Val1546Glu) c.5585T>A (p.Val1862Glu) c.5333T>A (p.Val1778Glu) c.4079T>A (p.Val1360Glu) | ClinVar dbSNP |
16 | g.2088555T>C | CA394315915 | TSC2 | c.*3718T>C (n.*3718T>C) c.5216T>C (p.Val1739Ala) c.5366T>C (p.Val1789Ala) c.*5882T>C (n.*5882T>C) c.*8118T>C (n.*8118T>C) c.5369T>C (p.Val1790Ala) c.5300T>C (p.Val1767Ala) c.5168T>C (p.Val1723Ala) c.5201T>C (p.Val1734Ala) c.1592T>C n.3251T>C c.4023T>C c.5228T>C (p.Val1743Ala) n.966T>C c.5171T>C (p.Val1724Ala) c.5237T>C (p.Val1746Ala) c.5162T>C (p.Val1721Ala) n.3017T>C c.5294T>C (p.Val1765Ala) c.5240T>C (p.Val1747Ala) c.5255T>C (p.Val1752Ala) c.5165T>C (p.Val1722Ala) c.5290T>C n.3453T>C c.5363T>C (p.Val1788Ala) n.4184T>C n.2621T>C n.2592T>C n.2482T>C c.5024T>C (p.Val1675Ala) c.*4536T>C (n.*4536T>C) c.5060T>C (p.Val1687Ala) n.3092T>C c.1551T>C n.2484T>C c.5423T>C (p.Val1808Ala) c.5420T>C (p.Val1807Ala) c.5312T>C (p.Val1771Ala) c.5291T>C (p.Val1764Ala) c.4637T>C (p.Val1546Ala) c.5585T>C (p.Val1862Ala) c.5333T>C (p.Val1778Ala) c.4079T>C (p.Val1360Ala) | |
16 | g.2088555T>G | CA394315923 | TSC2 | c.*3718T>G (n.*3718T>G) c.5216T>G (p.Val1739Gly) c.5366T>G (p.Val1789Gly) c.*5882T>G (n.*5882T>G) c.*8118T>G (n.*8118T>G) c.5369T>G (p.Val1790Gly) c.5300T>G (p.Val1767Gly) c.5168T>G (p.Val1723Gly) c.5201T>G (p.Val1734Gly) c.1592T>G n.3251T>G c.4023T>G c.5228T>G (p.Val1743Gly) n.966T>G c.5171T>G (p.Val1724Gly) c.5237T>G (p.Val1746Gly) c.5162T>G (p.Val1721Gly) n.3017T>G c.5294T>G (p.Val1765Gly) c.5240T>G (p.Val1747Gly) c.5255T>G (p.Val1752Gly) c.5165T>G (p.Val1722Gly) c.5290T>G n.3453T>G c.5363T>G (p.Val1788Gly) n.4184T>G n.2621T>G n.2592T>G n.2482T>G c.5024T>G (p.Val1675Gly) c.*4536T>G (n.*4536T>G) c.5060T>G (p.Val1687Gly) n.3092T>G c.1551T>G n.2484T>G c.5423T>G (p.Val1808Gly) c.5420T>G (p.Val1807Gly) c.5312T>G (p.Val1771Gly) c.5291T>G (p.Val1764Gly) c.4637T>G (p.Val1546Gly) c.5585T>G (p.Val1862Gly) c.5333T>G (p.Val1778Gly) c.4079T>G (p.Val1360Gly) | ClinVar dbSNP gnomAD v4 |
16 | g.2088555T= | CA2202034243 | TSC2 | c.*3718T= (n.*3718T=) c.5216T= (p.Val1739=) c.5366T= (p.Val1789=) c.*5882T= (n.*5882T=) c.*8118T= (n.*8118T=) c.5369T= (p.Val1790=) c.5300T= (p.Val1767=) c.5168T= (p.Val1723=) c.5201T= (p.Val1734=) c.1592T= n.3251T= c.4023T= c.5228T= (p.Val1743=) n.966T= c.5171T= (p.Val1724=) c.5237T= (p.Val1746=) c.5162T= (p.Val1721=) n.3017T= c.5294T= (p.Val1765=) c.5240T= (p.Val1747=) c.5255T= (p.Val1752=) c.5165T= (p.Val1722=) c.5290T= n.3453T= c.5363T= (p.Val1788=) n.4184T= n.2621T= n.2592T= n.2482T= c.5024T= (p.Val1675=) c.*4536T= (n.*4536T=) c.5060T= (p.Val1687=) n.3092T= c.1551T= n.2484T= c.5423T= (p.Val1808=) c.5420T= (p.Val1807=) c.5312T= (p.Val1771=) c.5291T= (p.Val1764=) c.4637T= (p.Val1546=) c.5585T= (p.Val1862=) c.5333T= (p.Val1778=) c.4079T= (p.Val1360=) | |
16 | g.2088556G>A | CA493043750 | TSC2 | c.*3719G>A (n.*3719G>A) c.5217G>A (p.Val1739=) c.5367G>A (p.Val1789=) c.*5883G>A (n.*5883G>A) c.*8119G>A (n.*8119G>A) c.5370G>A (p.Val1790=) c.5301G>A (p.Val1767=) c.5169G>A (p.Val1723=) c.5202G>A (p.Val1734=) c.1593G>A n.3252G>A c.4024G>A c.5229G>A (p.Val1743=) n.967G>A c.5172G>A (p.Val1724=) c.5238G>A (p.Val1746=) c.5163G>A (p.Val1721=) n.3018G>A c.5295G>A (p.Val1765=) c.5241G>A (p.Val1747=) c.5256G>A (p.Val1752=) c.5166G>A (p.Val1722=) c.5291G>A n.3454G>A c.5364G>A (p.Val1788=) n.4185G>A n.2622G>A n.2593G>A n.2483G>A c.5025G>A (p.Val1675=) c.*4537G>A (n.*4537G>A) c.5061G>A (p.Val1687=) n.3093G>A c.1552G>A n.2485G>A c.5424G>A (p.Val1808=) c.5421G>A (p.Val1807=) c.5313G>A (p.Val1771=) c.5292G>A (p.Val1764=) c.4638G>A (p.Val1546=) c.5586G>A (p.Val1862=) c.5334G>A (p.Val1778=) c.4080G>A (p.Val1360=) | ClinVar dbSNP gnomAD v4 |
16 | g.2088556G>C | CA055250 | TSC2 | c.*3719G>C (n.*3719G>C) c.5217G>C (p.Val1739=) c.5367G>C (p.Val1789=) c.*5883G>C (n.*5883G>C) c.*8119G>C (n.*8119G>C) c.5370G>C (p.Val1790=) c.5301G>C (p.Val1767=) c.5169G>C (p.Val1723=) c.5202G>C (p.Val1734=) c.1593G>C n.3252G>C c.4024G>C c.5229G>C (p.Val1743=) n.967G>C c.5172G>C (p.Val1724=) c.5238G>C (p.Val1746=) c.5163G>C (p.Val1721=) n.3018G>C c.5295G>C (p.Val1765=) c.5241G>C (p.Val1747=) c.5256G>C (p.Val1752=) c.5166G>C (p.Val1722=) c.5291G>C n.3454G>C c.5364G>C (p.Val1788=) n.4185G>C n.2622G>C n.2593G>C n.2483G>C c.5025G>C (p.Val1675=) c.*4537G>C (n.*4537G>C) c.5061G>C (p.Val1687=) n.3093G>C c.1552G>C n.2485G>C c.5424G>C (p.Val1808=) c.5421G>C (p.Val1807=) c.5313G>C (p.Val1771=) c.5292G>C (p.Val1764=) c.4638G>C (p.Val1546=) c.5586G>C (p.Val1862=) c.5334G>C (p.Val1778=) c.4080G>C (p.Val1360=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2088556G= | CA2202034250 | TSC2 | c.*3719G= (n.*3719G=) c.5217G= (p.Val1739=) c.5367G= (p.Val1789=) c.*5883G= (n.*5883G=) c.*8119G= (n.*8119G=) c.5370G= (p.Val1790=) c.5301G= (p.Val1767=) c.5169G= (p.Val1723=) c.5202G= (p.Val1734=) c.1593G= n.3252G= c.4024G= c.5229G= (p.Val1743=) n.967G= c.5172G= (p.Val1724=) c.5238G= (p.Val1746=) c.5163G= (p.Val1721=) n.3018G= c.5295G= (p.Val1765=) c.5241G= (p.Val1747=) c.5256G= (p.Val1752=) c.5166G= (p.Val1722=) c.5291G= n.3454G= c.5364G= (p.Val1788=) n.4185G= n.2622G= n.2593G= n.2483G= c.5025G= (p.Val1675=) c.*4537G= (n.*4537G=) c.5061G= (p.Val1687=) n.3093G= c.1552G= n.2485G= c.5424G= (p.Val1808=) c.5421G= (p.Val1807=) c.5313G= (p.Val1771=) c.5292G= (p.Val1764=) c.4638G= (p.Val1546=) c.5586G= (p.Val1862=) c.5334G= (p.Val1778=) c.4080G= (p.Val1360=) | |
16 | g.2088556G>T | CA493043751 | TSC2 | c.*3719G>T (n.*3719G>T) c.5217G>T (p.Val1739=) c.5367G>T (p.Val1789=) c.*5883G>T (n.*5883G>T) c.*8119G>T (n.*8119G>T) c.5370G>T (p.Val1790=) c.5301G>T (p.Val1767=) c.5169G>T (p.Val1723=) c.5202G>T (p.Val1734=) c.1593G>T n.3252G>T c.4024G>T c.5229G>T (p.Val1743=) n.967G>T c.5172G>T (p.Val1724=) c.5238G>T (p.Val1746=) c.5163G>T (p.Val1721=) n.3018G>T c.5295G>T (p.Val1765=) c.5241G>T (p.Val1747=) c.5256G>T (p.Val1752=) c.5166G>T (p.Val1722=) c.5291G>T n.3454G>T c.5364G>T (p.Val1788=) n.4185G>T n.2622G>T n.2593G>T n.2483G>T c.5025G>T (p.Val1675=) c.*4537G>T (n.*4537G>T) c.5061G>T (p.Val1687=) n.3093G>T c.1552G>T n.2485G>T c.5424G>T (p.Val1808=) c.5421G>T (p.Val1807=) c.5313G>T (p.Val1771=) c.5292G>T (p.Val1764=) c.4638G>T (p.Val1546=) c.5586G>T (p.Val1862=) c.5334G>T (p.Val1778=) c.4080G>T (p.Val1360=) | gnomAD v4 |
16 | g.2088557G>A | CA022427 | TSC2 | c.*3720G>A (n.*3720G>A) c.5218G>A (p.Gly1740Ser) c.5368G>A (p.Gly1790Ser) c.*5884G>A (n.*5884G>A) c.*8120G>A (n.*8120G>A) c.5371G>A (p.Gly1791Ser) c.5302G>A (p.Gly1768Ser) c.5170G>A (p.Gly1724Ser) c.5203G>A (p.Gly1735Ser) c.1594G>A n.3253G>A c.4025G>A c.5230G>A (p.Gly1744Ser) n.968G>A c.5173G>A (p.Gly1725Ser) c.5239G>A (p.Gly1747Ser) c.5164G>A (p.Gly1722Ser) n.3019G>A c.5296G>A (p.Gly1766Ser) c.5242G>A (p.Gly1748Ser) c.5257G>A (p.Gly1753Ser) c.5167G>A (p.Gly1723Ser) c.5292G>A n.3455G>A c.5365G>A (p.Gly1789Ser) n.4186G>A n.2623G>A n.2594G>A n.2484G>A c.5026G>A (p.Gly1676Ser) c.*4538G>A (n.*4538G>A) c.5062G>A (p.Gly1688Ser) n.3094G>A c.1553G>A n.2486G>A c.5425G>A (p.Gly1809Ser) c.5422G>A (p.Gly1808Ser) c.5314G>A (p.Gly1772Ser) c.5293G>A (p.Gly1765Ser) c.4639G>A (p.Gly1547Ser) c.5587G>A (p.Gly1863Ser) c.5335G>A (p.Gly1779Ser) c.4081G>A (p.Gly1361Ser) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
16 | g.2088557G>C | CA394315941 | TSC2 | c.*3720G>C (n.*3720G>C) c.5218G>C (p.Gly1740Arg) c.5368G>C (p.Gly1790Arg) c.*5884G>C (n.*5884G>C) c.*8120G>C (n.*8120G>C) c.5371G>C (p.Gly1791Arg) c.5302G>C (p.Gly1768Arg) c.5170G>C (p.Gly1724Arg) c.5203G>C (p.Gly1735Arg) c.1594G>C n.3253G>C c.4025G>C c.5230G>C (p.Gly1744Arg) n.968G>C c.5173G>C (p.Gly1725Arg) c.5239G>C (p.Gly1747Arg) c.5164G>C (p.Gly1722Arg) n.3019G>C c.5296G>C (p.Gly1766Arg) c.5242G>C (p.Gly1748Arg) c.5257G>C (p.Gly1753Arg) c.5167G>C (p.Gly1723Arg) c.5292G>C n.3455G>C c.5365G>C (p.Gly1789Arg) n.4186G>C n.2623G>C n.2594G>C n.2484G>C c.5026G>C (p.Gly1676Arg) c.*4538G>C (n.*4538G>C) c.5062G>C (p.Gly1688Arg) n.3094G>C c.1553G>C n.2486G>C c.5425G>C (p.Gly1809Arg) c.5422G>C (p.Gly1808Arg) c.5314G>C (p.Gly1772Arg) c.5293G>C (p.Gly1765Arg) c.4639G>C (p.Gly1547Arg) c.5587G>C (p.Gly1863Arg) c.5335G>C (p.Gly1779Arg) c.4081G>C (p.Gly1361Arg) | |
16 | g.2088557G= | CA2202034254 | TSC2 | c.*3720G= (n.*3720G=) c.5218G= (p.Gly1740=) c.5368G= (p.Gly1790=) c.*5884G= (n.*5884G=) c.*8120G= (n.*8120G=) c.5371G= (p.Gly1791=) c.5302G= (p.Gly1768=) c.5170G= (p.Gly1724=) c.5203G= (p.Gly1735=) c.1594G= n.3253G= c.4025G= c.5230G= (p.Gly1744=) n.968G= c.5173G= (p.Gly1725=) c.5239G= (p.Gly1747=) c.5164G= (p.Gly1722=) n.3019G= c.5296G= (p.Gly1766=) c.5242G= (p.Gly1748=) c.5257G= (p.Gly1753=) c.5167G= (p.Gly1723=) c.5292G= n.3455G= c.5365G= (p.Gly1789=) n.4186G= n.2623G= n.2594G= n.2484G= c.5026G= (p.Gly1676=) c.*4538G= (n.*4538G=) c.5062G= (p.Gly1688=) n.3094G= c.1553G= n.2486G= c.5425G= (p.Gly1809=) c.5422G= (p.Gly1808=) c.5314G= (p.Gly1772=) c.5293G= (p.Gly1765=) c.4639G= (p.Gly1547=) c.5587G= (p.Gly1863=) c.5335G= (p.Gly1779=) c.4081G= (p.Gly1361=) | |
16 | g.2088557G>T | CA394315942 | TSC2 | c.*3720G>T (n.*3720G>T) c.5218G>T (p.Gly1740Cys) c.5368G>T (p.Gly1790Cys) c.*5884G>T (n.*5884G>T) c.*8120G>T (n.*8120G>T) c.5371G>T (p.Gly1791Cys) c.5302G>T (p.Gly1768Cys) c.5170G>T (p.Gly1724Cys) c.5203G>T (p.Gly1735Cys) c.1594G>T n.3253G>T c.4025G>T c.5230G>T (p.Gly1744Cys) n.968G>T c.5173G>T (p.Gly1725Cys) c.5239G>T (p.Gly1747Cys) c.5164G>T (p.Gly1722Cys) n.3019G>T c.5296G>T (p.Gly1766Cys) c.5242G>T (p.Gly1748Cys) c.5257G>T (p.Gly1753Cys) c.5167G>T (p.Gly1723Cys) c.5292G>T n.3455G>T c.5365G>T (p.Gly1789Cys) n.4186G>T n.2623G>T n.2594G>T n.2484G>T c.5026G>T (p.Gly1676Cys) c.*4538G>T (n.*4538G>T) c.5062G>T (p.Gly1688Cys) n.3094G>T c.1553G>T n.2486G>T c.5425G>T (p.Gly1809Cys) c.5422G>T (p.Gly1808Cys) c.5314G>T (p.Gly1772Cys) c.5293G>T (p.Gly1765Cys) c.4639G>T (p.Gly1547Cys) c.5587G>T (p.Gly1863Cys) c.5335G>T (p.Gly1779Cys) c.4081G>T (p.Gly1361Cys) | |
16 | g.2088558G>A | CA394315944 | TSC2 | c.*3721G>A (n.*3721G>A) c.5219G>A (p.Gly1740Asp) c.5369G>A (p.Gly1790Asp) c.*5885G>A (n.*5885G>A) c.*8121G>A (n.*8121G>A) c.5372G>A (p.Gly1791Asp) c.5303G>A (p.Gly1768Asp) c.5171G>A (p.Gly1724Asp) c.5204G>A (p.Gly1735Asp) c.1595G>A n.3254G>A c.4026G>A c.5231G>A (p.Gly1744Asp) n.969G>A c.5174G>A (p.Gly1725Asp) c.5240G>A (p.Gly1747Asp) c.5165G>A (p.Gly1722Asp) n.3020G>A c.5297G>A (p.Gly1766Asp) c.5243G>A (p.Gly1748Asp) c.5258G>A (p.Gly1753Asp) c.5168G>A (p.Gly1723Asp) c.5293G>A n.3456G>A c.5366G>A (p.Gly1789Asp) n.4187G>A n.2624G>A n.2595G>A n.2485G>A c.5027G>A (p.Gly1676Asp) c.*4539G>A (n.*4539G>A) c.5063G>A (p.Gly1688Asp) n.3095G>A c.1554G>A n.2487G>A c.5426G>A (p.Gly1809Asp) c.5423G>A (p.Gly1808Asp) c.5315G>A (p.Gly1772Asp) c.5294G>A (p.Gly1765Asp) c.4640G>A (p.Gly1547Asp) c.5588G>A (p.Gly1863Asp) c.5336G>A (p.Gly1779Asp) c.4082G>A (p.Gly1361Asp) | ClinVar dbSNP |
16 | g.2088558G>C | CA394315946 | TSC2 | c.*3721G>C (n.*3721G>C) c.5219G>C (p.Gly1740Ala) c.5369G>C (p.Gly1790Ala) c.*5885G>C (n.*5885G>C) c.*8121G>C (n.*8121G>C) c.5372G>C (p.Gly1791Ala) c.5303G>C (p.Gly1768Ala) c.5171G>C (p.Gly1724Ala) c.5204G>C (p.Gly1735Ala) c.1595G>C n.3254G>C c.4026G>C c.5231G>C (p.Gly1744Ala) n.969G>C c.5174G>C (p.Gly1725Ala) c.5240G>C (p.Gly1747Ala) c.5165G>C (p.Gly1722Ala) n.3020G>C c.5297G>C (p.Gly1766Ala) c.5243G>C (p.Gly1748Ala) c.5258G>C (p.Gly1753Ala) c.5168G>C (p.Gly1723Ala) c.5293G>C n.3456G>C c.5366G>C (p.Gly1789Ala) n.4187G>C n.2624G>C n.2595G>C n.2485G>C c.5027G>C (p.Gly1676Ala) c.*4539G>C (n.*4539G>C) c.5063G>C (p.Gly1688Ala) n.3095G>C c.1554G>C n.2487G>C c.5426G>C (p.Gly1809Ala) c.5423G>C (p.Gly1808Ala) c.5315G>C (p.Gly1772Ala) c.5294G>C (p.Gly1765Ala) c.4640G>C (p.Gly1547Ala) c.5588G>C (p.Gly1863Ala) c.5336G>C (p.Gly1779Ala) c.4082G>C (p.Gly1361Ala) | ClinVar dbSNP |
16 | g.2088558G= | CA2202034263 | TSC2 | c.*3721G= (n.*3721G=) c.5219G= (p.Gly1740=) c.5369G= (p.Gly1790=) c.*5885G= (n.*5885G=) c.*8121G= (n.*8121G=) c.5372G= (p.Gly1791=) c.5303G= (p.Gly1768=) c.5171G= (p.Gly1724=) c.5204G= (p.Gly1735=) c.1595G= n.3254G= c.4026G= c.5231G= (p.Gly1744=) n.969G= c.5174G= (p.Gly1725=) c.5240G= (p.Gly1747=) c.5165G= (p.Gly1722=) n.3020G= c.5297G= (p.Gly1766=) c.5243G= (p.Gly1748=) c.5258G= (p.Gly1753=) c.5168G= (p.Gly1723=) c.5293G= n.3456G= c.5366G= (p.Gly1789=) n.4187G= n.2624G= n.2595G= n.2485G= c.5027G= (p.Gly1676=) c.*4539G= (n.*4539G=) c.5063G= (p.Gly1688=) n.3095G= c.1554G= n.2487G= c.5426G= (p.Gly1809=) c.5423G= (p.Gly1808=) c.5315G= (p.Gly1772=) c.5294G= (p.Gly1765=) c.4640G= (p.Gly1547=) c.5588G= (p.Gly1863=) c.5336G= (p.Gly1779=) c.4082G= (p.Gly1361=) | |
16 | g.2088558G>T | CA394315943 | TSC2 | c.*3721G>T (n.*3721G>T) c.5219G>T (p.Gly1740Val) c.5369G>T (p.Gly1790Val) c.*5885G>T (n.*5885G>T) c.*8121G>T (n.*8121G>T) c.5372G>T (p.Gly1791Val) c.5303G>T (p.Gly1768Val) c.5171G>T (p.Gly1724Val) c.5204G>T (p.Gly1735Val) c.1595G>T n.3254G>T c.4026G>T c.5231G>T (p.Gly1744Val) n.969G>T c.5174G>T (p.Gly1725Val) c.5240G>T (p.Gly1747Val) c.5165G>T (p.Gly1722Val) n.3020G>T c.5297G>T (p.Gly1766Val) c.5243G>T (p.Gly1748Val) c.5258G>T (p.Gly1753Val) c.5168G>T (p.Gly1723Val) c.5293G>T n.3456G>T c.5366G>T (p.Gly1789Val) n.4187G>T n.2624G>T n.2595G>T n.2485G>T c.5027G>T (p.Gly1676Val) c.*4539G>T (n.*4539G>T) c.5063G>T (p.Gly1688Val) n.3095G>T c.1554G>T n.2487G>T c.5426G>T (p.Gly1809Val) c.5423G>T (p.Gly1808Val) c.5315G>T (p.Gly1772Val) c.5294G>T (p.Gly1765Val) c.4640G>T (p.Gly1547Val) c.5588G>T (p.Gly1863Val) c.5336G>T (p.Gly1779Val) c.4082G>T (p.Gly1361Val) | |
16 | g.2088559C>A | CA493043760 | TSC2 | c.*3722C>A (n.*3722C>A) c.5220C>A (p.Gly1740=) c.5370C>A (p.Gly1790=) c.*5886C>A (n.*5886C>A) c.*8122C>A (n.*8122C>A) c.5373C>A (p.Gly1791=) c.5304C>A (p.Gly1768=) c.5172C>A (p.Gly1724=) c.5205C>A (p.Gly1735=) c.1596C>A n.3255C>A c.4027C>A c.5232C>A (p.Gly1744=) n.970C>A c.5175C>A (p.Gly1725=) c.5241C>A (p.Gly1747=) c.5166C>A (p.Gly1722=) n.3021C>A c.5298C>A (p.Gly1766=) c.5244C>A (p.Gly1748=) c.5259C>A (p.Gly1753=) c.5169C>A (p.Gly1723=) c.5294C>A n.3457C>A c.5367C>A (p.Gly1789=) n.4188C>A n.2625C>A n.2596C>A n.2486C>A c.5028C>A (p.Gly1676=) c.*4540C>A (n.*4540C>A) c.5064C>A (p.Gly1688=) n.3096C>A c.1555C>A n.2488C>A c.5427C>A (p.Gly1809=) c.5424C>A (p.Gly1808=) c.5316C>A (p.Gly1772=) c.5295C>A (p.Gly1765=) c.4641C>A (p.Gly1547=) c.5589C>A (p.Gly1863=) c.5337C>A (p.Gly1779=) c.4083C>A (p.Gly1361=) | dbSNP |
16 | g.2088559C= | CA2202034269 | TSC2 | c.*3722C= (n.*3722C=) c.5220C= (p.Gly1740=) c.5370C= (p.Gly1790=) c.*5886C= (n.*5886C=) c.*8122C= (n.*8122C=) c.5373C= (p.Gly1791=) c.5304C= (p.Gly1768=) c.5172C= (p.Gly1724=) c.5205C= (p.Gly1735=) c.1596C= n.3255C= c.4027C= c.5232C= (p.Gly1744=) n.970C= c.5175C= (p.Gly1725=) c.5241C= (p.Gly1747=) c.5166C= (p.Gly1722=) n.3021C= c.5298C= (p.Gly1766=) c.5244C= (p.Gly1748=) c.5259C= (p.Gly1753=) c.5169C= (p.Gly1723=) c.5294C= n.3457C= c.5367C= (p.Gly1789=) n.4188C= n.2625C= n.2596C= n.2486C= c.5028C= (p.Gly1676=) c.*4540C= (n.*4540C=) c.5064C= (p.Gly1688=) n.3096C= c.1555C= n.2488C= c.5427C= (p.Gly1809=) c.5424C= (p.Gly1808=) c.5316C= (p.Gly1772=) c.5295C= (p.Gly1765=) c.4641C= (p.Gly1547=) c.5589C= (p.Gly1863=) c.5337C= (p.Gly1779=) c.4083C= (p.Gly1361=) | |
16 | g.2088559C>G | CA493043762 | TSC2 | c.*3722C>G (n.*3722C>G) c.5220C>G (p.Gly1740=) c.5370C>G (p.Gly1790=) c.*5886C>G (n.*5886C>G) c.*8122C>G (n.*8122C>G) c.5373C>G (p.Gly1791=) c.5304C>G (p.Gly1768=) c.5172C>G (p.Gly1724=) c.5205C>G (p.Gly1735=) c.1596C>G n.3255C>G c.4027C>G c.5232C>G (p.Gly1744=) n.970C>G c.5175C>G (p.Gly1725=) c.5241C>G (p.Gly1747=) c.5166C>G (p.Gly1722=) n.3021C>G c.5298C>G (p.Gly1766=) c.5244C>G (p.Gly1748=) c.5259C>G (p.Gly1753=) c.5169C>G (p.Gly1723=) c.5294C>G n.3457C>G c.5367C>G (p.Gly1789=) n.4188C>G n.2625C>G n.2596C>G n.2486C>G c.5028C>G (p.Gly1676=) c.*4540C>G (n.*4540C>G) c.5064C>G (p.Gly1688=) n.3096C>G c.1555C>G n.2488C>G c.5427C>G (p.Gly1809=) c.5424C>G (p.Gly1808=) c.5316C>G (p.Gly1772=) c.5295C>G (p.Gly1765=) c.4641C>G (p.Gly1547=) c.5589C>G (p.Gly1863=) c.5337C>G (p.Gly1779=) c.4083C>G (p.Gly1361=) | ClinVar dbSNP |
16 | g.2088559C>T | CA493043763 | TSC2 | c.*3722C>T (n.*3722C>T) c.5220C>T (p.Gly1740=) c.5370C>T (p.Gly1790=) c.*5886C>T (n.*5886C>T) c.*8122C>T (n.*8122C>T) c.5373C>T (p.Gly1791=) c.5304C>T (p.Gly1768=) c.5172C>T (p.Gly1724=) c.5205C>T (p.Gly1735=) c.1596C>T n.3255C>T c.4027C>T c.5232C>T (p.Gly1744=) n.970C>T c.5175C>T (p.Gly1725=) c.5241C>T (p.Gly1747=) c.5166C>T (p.Gly1722=) n.3021C>T c.5298C>T (p.Gly1766=) c.5244C>T (p.Gly1748=) c.5259C>T (p.Gly1753=) c.5169C>T (p.Gly1723=) c.5294C>T n.3457C>T c.5367C>T (p.Gly1789=) n.4188C>T n.2625C>T n.2596C>T n.2486C>T c.5028C>T (p.Gly1676=) c.*4540C>T (n.*4540C>T) c.5064C>T (p.Gly1688=) n.3096C>T c.1555C>T n.2488C>T c.5427C>T (p.Gly1809=) c.5424C>T (p.Gly1808=) c.5316C>T (p.Gly1772=) c.5295C>T (p.Gly1765=) c.4641C>T (p.Gly1547=) c.5589C>T (p.Gly1863=) c.5337C>T (p.Gly1779=) c.4083C>T (p.Gly1361=) | ClinVar dbSNP gnomAD v4 |
16 | g.2088560C>A | CA16615208 | TSC2 | c.*3723C>A (n.*3723C>A) c.5221C>A (p.Gln1741Lys) c.5371C>A (p.Gln1791Lys) c.*5887C>A (n.*5887C>A) c.*8123C>A (n.*8123C>A) c.5374C>A (p.Gln1792Lys) c.5305C>A (p.Gln1769Lys) c.5173C>A (p.Gln1725Lys) c.5206C>A (p.Gln1736Lys) c.1597C>A n.3256C>A c.4028C>A c.5233C>A (p.Gln1745Lys) n.971C>A c.5176C>A (p.Gln1726Lys) c.5242C>A (p.Gln1748Lys) c.5167C>A (p.Gln1723Lys) n.3022C>A c.5299C>A (p.Gln1767Lys) c.5245C>A (p.Gln1749Lys) c.5260C>A (p.Gln1754Lys) c.5170C>A (p.Gln1724Lys) c.5295C>A n.3458C>A c.5368C>A (p.Gln1790Lys) n.4189C>A n.2626C>A n.2597C>A n.2487C>A c.5029C>A (p.Gln1677Lys) c.*4541C>A (n.*4541C>A) c.5065C>A (p.Gln1689Lys) n.3097C>A c.1556C>A n.2489C>A c.5428C>A (p.Gln1810Lys) c.5425C>A (p.Gln1809Lys) c.5317C>A (p.Gln1773Lys) c.5296C>A (p.Gln1766Lys) c.4642C>A (p.Gln1548Lys) c.5590C>A (p.Gln1864Lys) c.5338C>A (p.Gln1780Lys) c.4084C>A (p.Gln1362Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.2088560C= | CA2202034274 | TSC2 | c.*3723C= (n.*3723C=) c.5221C= (p.Gln1741=) c.5371C= (p.Gln1791=) c.*5887C= (n.*5887C=) c.*8123C= (n.*8123C=) c.5374C= (p.Gln1792=) c.5305C= (p.Gln1769=) c.5173C= (p.Gln1725=) c.5206C= (p.Gln1736=) c.1597C= n.3256C= c.4028C= c.5233C= (p.Gln1745=) n.971C= c.5176C= (p.Gln1726=) c.5242C= (p.Gln1748=) c.5167C= (p.Gln1723=) n.3022C= c.5299C= (p.Gln1767=) c.5245C= (p.Gln1749=) c.5260C= (p.Gln1754=) c.5170C= (p.Gln1724=) c.5295C= n.3458C= c.5368C= (p.Gln1790=) n.4189C= n.2626C= n.2597C= n.2487C= c.5029C= (p.Gln1677=) c.*4541C= (n.*4541C=) c.5065C= (p.Gln1689=) n.3097C= c.1556C= n.2489C= c.5428C= (p.Gln1810=) c.5425C= (p.Gln1809=) c.5317C= (p.Gln1773=) c.5296C= (p.Gln1766=) c.4642C= (p.Gln1548=) c.5590C= (p.Gln1864=) c.5338C= (p.Gln1780=) c.4084C= (p.Gln1362=) | |
16 | g.2088560C>G | CA394315950 | TSC2 | c.*3723C>G (n.*3723C>G) c.5221C>G (p.Gln1741Glu) c.5371C>G (p.Gln1791Glu) c.*5887C>G (n.*5887C>G) c.*8123C>G (n.*8123C>G) c.5374C>G (p.Gln1792Glu) c.5305C>G (p.Gln1769Glu) c.5173C>G (p.Gln1725Glu) c.5206C>G (p.Gln1736Glu) c.1597C>G n.3256C>G c.4028C>G c.5233C>G (p.Gln1745Glu) n.971C>G c.5176C>G (p.Gln1726Glu) c.5242C>G (p.Gln1748Glu) c.5167C>G (p.Gln1723Glu) n.3022C>G c.5299C>G (p.Gln1767Glu) c.5245C>G (p.Gln1749Glu) c.5260C>G (p.Gln1754Glu) c.5170C>G (p.Gln1724Glu) c.5295C>G n.3458C>G c.5368C>G (p.Gln1790Glu) n.4189C>G n.2626C>G n.2597C>G n.2487C>G c.5029C>G (p.Gln1677Glu) c.*4541C>G (n.*4541C>G) c.5065C>G (p.Gln1689Glu) n.3097C>G c.1556C>G n.2489C>G c.5428C>G (p.Gln1810Glu) c.5425C>G (p.Gln1809Glu) c.5317C>G (p.Gln1773Glu) c.5296C>G (p.Gln1766Glu) c.4642C>G (p.Gln1548Glu) c.5590C>G (p.Gln1864Glu) c.5338C>G (p.Gln1780Glu) c.4084C>G (p.Gln1362Glu) | |
16 | g.2088560C>T | CA394315949 | TSC2 | c.*3723C>T (n.*3723C>T) c.5221C>T (p.Gln1741Ter) c.5371C>T (p.Gln1791Ter) c.*5887C>T (n.*5887C>T) c.*8123C>T (n.*8123C>T) c.5374C>T (p.Gln1792Ter) c.5305C>T (p.Gln1769Ter) c.5173C>T (p.Gln1725Ter) c.5206C>T (p.Gln1736Ter) c.1597C>T n.3256C>T c.4028C>T c.5233C>T (p.Gln1745Ter) n.971C>T c.5176C>T (p.Gln1726Ter) c.5242C>T (p.Gln1748Ter) c.5167C>T (p.Gln1723Ter) n.3022C>T c.5299C>T (p.Gln1767Ter) c.5245C>T (p.Gln1749Ter) c.5260C>T (p.Gln1754Ter) c.5170C>T (p.Gln1724Ter) c.5295C>T n.3458C>T c.5368C>T (p.Gln1790Ter) n.4189C>T n.2626C>T n.2597C>T n.2487C>T c.5029C>T (p.Gln1677Ter) c.*4541C>T (n.*4541C>T) c.5065C>T (p.Gln1689Ter) n.3097C>T c.1556C>T n.2489C>T c.5428C>T (p.Gln1810Ter) c.5425C>T (p.Gln1809Ter) c.5317C>T (p.Gln1773Ter) c.5296C>T (p.Gln1766Ter) c.4642C>T (p.Gln1548Ter) c.5590C>T (p.Gln1864Ter) c.5338C>T (p.Gln1780Ter) c.4084C>T (p.Gln1362Ter) | ClinVar gnomAD v4 |
16 | g.2088561A>C | CA394315951 | TSC2 | c.*3724A>C (n.*3724A>C) c.5222A>C (p.Gln1741Pro) c.5372A>C (p.Gln1791Pro) c.*5888A>C (n.*5888A>C) c.*8124A>C (n.*8124A>C) c.5375A>C (p.Gln1792Pro) c.5306A>C (p.Gln1769Pro) c.5174A>C (p.Gln1725Pro) c.5207A>C (p.Gln1736Pro) c.1598A>C n.3257A>C c.4029A>C c.5234A>C (p.Gln1745Pro) n.972A>C c.5177A>C (p.Gln1726Pro) c.5243A>C (p.Gln1748Pro) c.5168A>C (p.Gln1723Pro) n.3023A>C c.5300A>C (p.Gln1767Pro) c.5246A>C (p.Gln1749Pro) c.5261A>C (p.Gln1754Pro) c.5171A>C (p.Gln1724Pro) c.5296A>C n.3459A>C c.5369A>C (p.Gln1790Pro) n.4190A>C n.2627A>C n.2598A>C n.2488A>C c.5030A>C (p.Gln1677Pro) c.*4542A>C (n.*4542A>C) c.5066A>C (p.Gln1689Pro) n.3098A>C c.1557A>C n.2490A>C c.5429A>C (p.Gln1810Pro) c.5426A>C (p.Gln1809Pro) c.5318A>C (p.Gln1773Pro) c.5297A>C (p.Gln1766Pro) c.4643A>C (p.Gln1548Pro) c.5591A>C (p.Gln1864Pro) c.5339A>C (p.Gln1780Pro) c.4085A>C (p.Gln1362Pro) | gnomAD v4 |
16 | g.2088561A>G | CA394315953 | TSC2 | c.*3724A>G (n.*3724A>G) c.5222A>G (p.Gln1741Arg) c.5372A>G (p.Gln1791Arg) c.*5888A>G (n.*5888A>G) c.*8124A>G (n.*8124A>G) c.5375A>G (p.Gln1792Arg) c.5306A>G (p.Gln1769Arg) c.5174A>G (p.Gln1725Arg) c.5207A>G (p.Gln1736Arg) c.1598A>G n.3257A>G c.4029A>G c.5234A>G (p.Gln1745Arg) n.972A>G c.5177A>G (p.Gln1726Arg) c.5243A>G (p.Gln1748Arg) c.5168A>G (p.Gln1723Arg) n.3023A>G c.5300A>G (p.Gln1767Arg) c.5246A>G (p.Gln1749Arg) c.5261A>G (p.Gln1754Arg) c.5171A>G (p.Gln1724Arg) c.5296A>G n.3459A>G c.5369A>G (p.Gln1790Arg) n.4190A>G n.2627A>G n.2598A>G n.2488A>G c.5030A>G (p.Gln1677Arg) c.*4542A>G (n.*4542A>G) c.5066A>G (p.Gln1689Arg) n.3098A>G c.1557A>G n.2490A>G c.5429A>G (p.Gln1810Arg) c.5426A>G (p.Gln1809Arg) c.5318A>G (p.Gln1773Arg) c.5297A>G (p.Gln1766Arg) c.4643A>G (p.Gln1548Arg) c.5591A>G (p.Gln1864Arg) c.5339A>G (p.Gln1780Arg) c.4085A>G (p.Gln1362Arg) | ClinVar gnomAD v4 |
16 | g.2088561A>T | CA394315956 | TSC2 | c.*3724A>T (n.*3724A>T) c.5222A>T (p.Gln1741Leu) c.5372A>T (p.Gln1791Leu) c.*5888A>T (n.*5888A>T) c.*8124A>T (n.*8124A>T) c.5375A>T (p.Gln1792Leu) c.5306A>T (p.Gln1769Leu) c.5174A>T (p.Gln1725Leu) c.5207A>T (p.Gln1736Leu) c.1598A>T n.3257A>T c.4029A>T c.5234A>T (p.Gln1745Leu) n.972A>T c.5177A>T (p.Gln1726Leu) c.5243A>T (p.Gln1748Leu) c.5168A>T (p.Gln1723Leu) n.3023A>T c.5300A>T (p.Gln1767Leu) c.5246A>T (p.Gln1749Leu) c.5261A>T (p.Gln1754Leu) c.5171A>T (p.Gln1724Leu) c.5296A>T n.3459A>T c.5369A>T (p.Gln1790Leu) n.4190A>T n.2627A>T n.2598A>T n.2488A>T c.5030A>T (p.Gln1677Leu) c.*4542A>T (n.*4542A>T) c.5066A>T (p.Gln1689Leu) n.3098A>T c.1557A>T n.2490A>T c.5429A>T (p.Gln1810Leu) c.5426A>T (p.Gln1809Leu) c.5318A>T (p.Gln1773Leu) c.5297A>T (p.Gln1766Leu) c.4643A>T (p.Gln1548Leu) c.5591A>T (p.Gln1864Leu) c.5339A>T (p.Gln1780Leu) c.4085A>T (p.Gln1362Leu) | |
16 | g.2088562G>A | CA493043769 | TSC2 | c.*3725G>A (n.*3725G>A) c.5223G>A (p.Gln1741=) c.5373G>A (p.Gln1791=) c.*5889G>A (n.*5889G>A) c.*8125G>A (n.*8125G>A) c.5376G>A (p.Gln1792=) c.5307G>A (p.Gln1769=) c.5175G>A (p.Gln1725=) c.5208G>A (p.Gln1736=) c.1599G>A n.3258G>A c.4030G>A c.5235G>A (p.Gln1745=) n.973G>A c.5178G>A (p.Gln1726=) c.5244G>A (p.Gln1748=) c.5169G>A (p.Gln1723=) n.3024G>A c.5301G>A (p.Gln1767=) c.5247G>A (p.Gln1749=) c.5262G>A (p.Gln1754=) c.5172G>A (p.Gln1724=) c.5297G>A n.3460G>A c.5370G>A (p.Gln1790=) n.4191G>A n.2628G>A n.2599G>A n.2489G>A c.5031G>A (p.Gln1677=) c.*4543G>A (n.*4543G>A) c.5067G>A (p.Gln1689=) n.3099G>A c.1558G>A n.2491G>A c.5430G>A (p.Gln1810=) c.5427G>A (p.Gln1809=) c.5319G>A (p.Gln1773=) c.5298G>A (p.Gln1766=) c.4644G>A (p.Gln1548=) c.5592G>A (p.Gln1864=) c.5340G>A (p.Gln1780=) c.4086G>A (p.Gln1362=) | dbSNP gnomAD v4 |
16 | g.2088562G>C | CA022432 | TSC2 | c.*3725G>C (n.*3725G>C) c.5223G>C (p.Gln1741His) c.5373G>C (p.Gln1791His) c.*5889G>C (n.*5889G>C) c.*8125G>C (n.*8125G>C) c.5376G>C (p.Gln1792His) c.5307G>C (p.Gln1769His) c.5175G>C (p.Gln1725His) c.5208G>C (p.Gln1736His) c.1599G>C n.3258G>C c.4030G>C c.5235G>C (p.Gln1745His) n.973G>C c.5178G>C (p.Gln1726His) c.5244G>C (p.Gln1748His) c.5169G>C (p.Gln1723His) n.3024G>C c.5301G>C (p.Gln1767His) c.5247G>C (p.Gln1749His) c.5262G>C (p.Gln1754His) c.5172G>C (p.Gln1724His) c.5297G>C n.3460G>C c.5370G>C (p.Gln1790His) n.4191G>C n.2628G>C n.2599G>C n.2489G>C c.5031G>C (p.Gln1677His) c.*4543G>C (n.*4543G>C) c.5067G>C (p.Gln1689His) n.3099G>C c.1558G>C n.2491G>C c.5430G>C (p.Gln1810His) c.5427G>C (p.Gln1809His) c.5319G>C (p.Gln1773His) c.5298G>C (p.Gln1766His) c.4644G>C (p.Gln1548His) c.5592G>C (p.Gln1864His) c.5340G>C (p.Gln1780His) c.4086G>C (p.Gln1362His) | ClinVar dbSNP gnomAD v4 |
16 | g.2088562G= | CA2202034277 | TSC2 | c.*3725G= (n.*3725G=) c.5223G= (p.Gln1741=) c.5373G= (p.Gln1791=) c.*5889G= (n.*5889G=) c.*8125G= (n.*8125G=) c.5376G= (p.Gln1792=) c.5307G= (p.Gln1769=) c.5175G= (p.Gln1725=) c.5208G= (p.Gln1736=) c.1599G= n.3258G= c.4030G= c.5235G= (p.Gln1745=) n.973G= c.5178G= (p.Gln1726=) c.5244G= (p.Gln1748=) c.5169G= (p.Gln1723=) n.3024G= c.5301G= (p.Gln1767=) c.5247G= (p.Gln1749=) c.5262G= (p.Gln1754=) c.5172G= (p.Gln1724=) c.5297G= n.3460G= c.5370G= (p.Gln1790=) n.4191G= n.2628G= n.2599G= n.2489G= c.5031G= (p.Gln1677=) c.*4543G= (n.*4543G=) c.5067G= (p.Gln1689=) n.3099G= c.1558G= n.2491G= c.5430G= (p.Gln1810=) c.5427G= (p.Gln1809=) c.5319G= (p.Gln1773=) c.5298G= (p.Gln1766=) c.4644G= (p.Gln1548=) c.5592G= (p.Gln1864=) c.5340G= (p.Gln1780=) c.4086G= (p.Gln1362=) | |
16 | g.2088562G>T | CA394315963 | TSC2 | c.*3725G>T (n.*3725G>T) c.5223G>T (p.Gln1741His) c.5373G>T (p.Gln1791His) c.*5889G>T (n.*5889G>T) c.*8125G>T (n.*8125G>T) c.5376G>T (p.Gln1792His) c.5307G>T (p.Gln1769His) c.5175G>T (p.Gln1725His) c.5208G>T (p.Gln1736His) c.1599G>T n.3258G>T c.4030G>T c.5235G>T (p.Gln1745His) n.973G>T c.5178G>T (p.Gln1726His) c.5244G>T (p.Gln1748His) c.5169G>T (p.Gln1723His) n.3024G>T c.5301G>T (p.Gln1767His) c.5247G>T (p.Gln1749His) c.5262G>T (p.Gln1754His) c.5172G>T (p.Gln1724His) c.5297G>T n.3460G>T c.5370G>T (p.Gln1790His) n.4191G>T n.2628G>T n.2599G>T n.2489G>T c.5031G>T (p.Gln1677His) c.*4543G>T (n.*4543G>T) c.5067G>T (p.Gln1689His) n.3099G>T c.1558G>T n.2491G>T c.5430G>T (p.Gln1810His) c.5427G>T (p.Gln1809His) c.5319G>T (p.Gln1773His) c.5298G>T (p.Gln1766His) c.4644G>T (p.Gln1548His) c.5592G>T (p.Gln1864His) c.5340G>T (p.Gln1780His) c.4086G>T (p.Gln1362His) | gnomAD v4 |
16 | g.2088563C>A | CA493043774 | TSC2 | c.*3726C>A (n.*3726C>A) c.5224C>A (p.Arg1742=) c.5374C>A (p.Arg1792=) c.*5890C>A (n.*5890C>A) c.*8126C>A (n.*8126C>A) c.5377C>A (p.Arg1793=) c.5308C>A (p.Arg1770=) c.5176C>A (p.Arg1726=) c.5209C>A (p.Arg1737=) c.1600C>A n.3259C>A c.4031C>A c.5236C>A (p.Arg1746=) n.974C>A c.5179C>A (p.Arg1727=) c.5245C>A (p.Arg1749=) c.5170C>A (p.Arg1724=) n.3025C>A c.5302C>A (p.Arg1768=) c.5248C>A (p.Arg1750=) c.5263C>A (p.Arg1755=) c.5173C>A (p.Arg1725=) c.5298C>A n.3461C>A c.5371C>A (p.Arg1791=) n.4192C>A n.2629C>A n.2600C>A n.2490C>A c.5032C>A (p.Arg1678=) c.*4544C>A (n.*4544C>A) c.5068C>A (p.Arg1690=) n.3100C>A c.1559C>A n.2492C>A c.5431C>A (p.Arg1811=) c.5428C>A (p.Arg1810=) c.5320C>A (p.Arg1774=) c.5299C>A (p.Arg1767=) c.4645C>A (p.Arg1549=) c.5593C>A (p.Arg1865=) c.5341C>A (p.Arg1781=) c.4087C>A (p.Arg1363=) | ClinVar |
16 | g.2088563C= | CA2202034285 | TSC2 | c.*3726C= (n.*3726C=) c.5224C= (p.Arg1742=) c.5374C= (p.Arg1792=) c.*5890C= (n.*5890C=) c.*8126C= (n.*8126C=) c.5377C= (p.Arg1793=) c.5308C= (p.Arg1770=) c.5176C= (p.Arg1726=) c.5209C= (p.Arg1737=) c.1600C= n.3259C= c.4031C= c.5236C= (p.Arg1746=) n.974C= c.5179C= (p.Arg1727=) c.5245C= (p.Arg1749=) c.5170C= (p.Arg1724=) n.3025C= c.5302C= (p.Arg1768=) c.5248C= (p.Arg1750=) c.5263C= (p.Arg1755=) c.5173C= (p.Arg1725=) c.5298C= n.3461C= c.5371C= (p.Arg1791=) n.4192C= n.2629C= n.2600C= n.2490C= c.5032C= (p.Arg1678=) c.*4544C= (n.*4544C=) c.5068C= (p.Arg1690=) n.3100C= c.1559C= n.2492C= c.5431C= (p.Arg1811=) c.5428C= (p.Arg1810=) c.5320C= (p.Arg1774=) c.5299C= (p.Arg1767=) c.4645C= (p.Arg1549=) c.5593C= (p.Arg1865=) c.5341C= (p.Arg1781=) c.4087C= (p.Arg1363=) | |
16 | g.2088563C>G | CA394315966 | TSC2 | c.*3726C>G (n.*3726C>G) c.5224C>G (p.Arg1742Gly) c.5374C>G (p.Arg1792Gly) c.*5890C>G (n.*5890C>G) c.*8126C>G (n.*8126C>G) c.5377C>G (p.Arg1793Gly) c.5308C>G (p.Arg1770Gly) c.5176C>G (p.Arg1726Gly) c.5209C>G (p.Arg1737Gly) c.1600C>G n.3259C>G c.4031C>G c.5236C>G (p.Arg1746Gly) n.974C>G c.5179C>G (p.Arg1727Gly) c.5245C>G (p.Arg1749Gly) c.5170C>G (p.Arg1724Gly) n.3025C>G c.5302C>G (p.Arg1768Gly) c.5248C>G (p.Arg1750Gly) c.5263C>G (p.Arg1755Gly) c.5173C>G (p.Arg1725Gly) c.5298C>G n.3461C>G c.5371C>G (p.Arg1791Gly) n.4192C>G n.2629C>G n.2600C>G n.2490C>G c.5032C>G (p.Arg1678Gly) c.*4544C>G (n.*4544C>G) c.5068C>G (p.Arg1690Gly) n.3100C>G c.1559C>G n.2492C>G c.5431C>G (p.Arg1811Gly) c.5428C>G (p.Arg1810Gly) c.5320C>G (p.Arg1774Gly) c.5299C>G (p.Arg1767Gly) c.4645C>G (p.Arg1549Gly) c.5593C>G (p.Arg1865Gly) c.5341C>G (p.Arg1781Gly) c.4087C>G (p.Arg1363Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088563C>T | CA394315971 | TSC2 | c.*3726C>T (n.*3726C>T) c.5224C>T (p.Arg1742Trp) c.5374C>T (p.Arg1792Trp) c.*5890C>T (n.*5890C>T) c.*8126C>T (n.*8126C>T) c.5377C>T (p.Arg1793Trp) c.5308C>T (p.Arg1770Trp) c.5176C>T (p.Arg1726Trp) c.5209C>T (p.Arg1737Trp) c.1600C>T n.3259C>T c.4031C>T c.5236C>T (p.Arg1746Trp) n.974C>T c.5179C>T (p.Arg1727Trp) c.5245C>T (p.Arg1749Trp) c.5170C>T (p.Arg1724Trp) n.3025C>T c.5302C>T (p.Arg1768Trp) c.5248C>T (p.Arg1750Trp) c.5263C>T (p.Arg1755Trp) c.5173C>T (p.Arg1725Trp) c.5298C>T n.3461C>T c.5371C>T (p.Arg1791Trp) n.4192C>T n.2629C>T n.2600C>T n.2490C>T c.5032C>T (p.Arg1678Trp) c.*4544C>T (n.*4544C>T) c.5068C>T (p.Arg1690Trp) n.3100C>T c.1559C>T n.2492C>T c.5431C>T (p.Arg1811Trp) c.5428C>T (p.Arg1810Trp) c.5320C>T (p.Arg1774Trp) c.5299C>T (p.Arg1767Trp) c.4645C>T (p.Arg1549Trp) c.5593C>T (p.Arg1865Trp) c.5341C>T (p.Arg1781Trp) c.4087C>T (p.Arg1363Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088563dup | CA2573151992 | TSC2 | c.*3726dup (n.*3726dup) c.5224dup (p.Arg1742ProfsTer?) c.5374dup (p.Arg1792ProfsTer?) c.*5890dup (n.*5890dup) c.*8126dup (n.*8126dup) c.5377dup (p.Arg1793ProfsTer?) c.5308dup (p.Arg1770ProfsTer?) c.5176dup (p.Arg1726ProfsTer?) c.5209dup (p.Arg1737ProfsTer?) c.1600dup n.3259dup c.4031dup c.5236dup (p.Arg1746ProfsTer?) n.974dup c.5179dup (p.Arg1727ProfsTer?) c.5245dup (p.Arg1749ProfsTer?) c.5170dup (p.Arg1724ProfsTer?) n.3025dup c.5302dup (p.Arg1768ProfsTer?) c.5248dup (p.Arg1750ProfsTer?) c.5263dup (p.Arg1755ProfsTer?) c.5173dup (p.Arg1725ProfsTer?) c.5298dup n.3461dup c.5371dup (p.Arg1791ProfsTer?) n.4192dup n.2629dup n.2600dup n.2490dup c.5032dup (p.Arg1678ProfsTer?) c.*4544dup (n.*4544dup) c.5068dup (p.Arg1690ProfsTer?) n.3100dup c.1559dup n.2492dup c.5431dup (p.Arg1811ProfsTer?) c.5428dup (p.Arg1810ProfsTer?) c.5320dup (p.Arg1774ProfsTer?) c.5299dup (p.Arg1767ProfsTer?) c.4645dup (p.Arg1549ProfsTer?) c.5593dup (p.Arg1865ProfsTer?) c.5341dup (p.Arg1781ProfsTer?) c.4087dup (p.Arg1363ProfsTer?) | ClinVar dbSNP |
16 | g.2088563_2088564insT | CA2499223358 | TSC2 | c.*3726_*3727insT (n.*3726_*3727insT) c.5224_5225insT (p.Arg1742LeufsTer?) c.5374_5375insT (p.Arg1792LeufsTer?) c.*5890_*5891insT (n.*5890_*5891insT) c.*8126_*8127insT (n.*8126_*8127insT) c.5377_5378insT (p.Arg1793LeufsTer?) c.5308_5309insT (p.Arg1770LeufsTer?) c.5176_5177insT (p.Arg1726LeufsTer?) c.5209_5210insT (p.Arg1737LeufsTer?) c.1600_1601insT n.3259_3260insT c.4031_4032insT c.5236_5237insT (p.Arg1746LeufsTer?) n.974_975insT c.5179_5180insT (p.Arg1727LeufsTer?) c.5245_5246insT (p.Arg1749LeufsTer?) c.5170_5171insT (p.Arg1724LeufsTer?) n.3025_3026insT c.5302_5303insT (p.Arg1768LeufsTer?) c.5248_5249insT (p.Arg1750LeufsTer?) c.5263_5264insT (p.Arg1755LeufsTer?) c.5173_5174insT (p.Arg1725LeufsTer?) c.5298_5299insT n.3461_3462insT c.5371_5372insT (p.Arg1791LeufsTer?) n.4192_4193insT n.2629_2630insT n.2600_2601insT n.2490_2491insT c.5032_5033insT (p.Arg1678LeufsTer?) c.*4544_*4545insT (n.*4544_*4545insT) c.5068_5069insT (p.Arg1690LeufsTer?) n.3100_3101insT c.1559_1560insT n.2492_2493insT c.5431_5432insT (p.Arg1811LeufsTer?) c.5428_5429insT (p.Arg1810LeufsTer?) c.5320_5321insT (p.Arg1774LeufsTer?) c.5299_5300insT (p.Arg1767LeufsTer?) c.4645_4646insT (p.Arg1549LeufsTer?) c.5593_5594insT (p.Arg1865LeufsTer?) c.5341_5342insT (p.Arg1781LeufsTer?) c.4087_4088insT (p.Arg1363LeufsTer?) | ClinVar dbSNP |
16 | g.2088564G>A | CA022436 | TSC2 | c.*3727G>A (n.*3727G>A) c.5225G>A (p.Arg1742Gln) c.5375G>A (p.Arg1792Gln) c.*5891G>A (n.*5891G>A) c.*8127G>A (n.*8127G>A) c.5378G>A (p.Arg1793Gln) c.5309G>A (p.Arg1770Gln) c.5177G>A (p.Arg1726Gln) c.5210G>A (p.Arg1737Gln) c.1601G>A n.3260G>A c.4032G>A c.5237G>A (p.Arg1746Gln) n.975G>A c.5180G>A (p.Arg1727Gln) c.5246G>A (p.Arg1749Gln) c.5171G>A (p.Arg1724Gln) n.3026G>A c.5303G>A (p.Arg1768Gln) c.5249G>A (p.Arg1750Gln) c.5264G>A (p.Arg1755Gln) c.5174G>A (p.Arg1725Gln) c.5299G>A n.3462G>A c.5372G>A (p.Arg1791Gln) n.4193G>A n.2630G>A n.2601G>A n.2491G>A c.5033G>A (p.Arg1678Gln) c.*4545G>A (n.*4545G>A) c.5069G>A (p.Arg1690Gln) n.3101G>A c.1560G>A n.2493G>A c.5432G>A (p.Arg1811Gln) c.5429G>A (p.Arg1810Gln) c.5321G>A (p.Arg1774Gln) c.5300G>A (p.Arg1767Gln) c.4646G>A (p.Arg1549Gln) c.5594G>A (p.Arg1865Gln) c.5342G>A (p.Arg1781Gln) c.4088G>A (p.Arg1363Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088564G>C | CA394315973 | TSC2 | c.*3727G>C (n.*3727G>C) c.5225G>C (p.Arg1742Pro) c.5375G>C (p.Arg1792Pro) c.*5891G>C (n.*5891G>C) c.*8127G>C (n.*8127G>C) c.5378G>C (p.Arg1793Pro) c.5309G>C (p.Arg1770Pro) c.5177G>C (p.Arg1726Pro) c.5210G>C (p.Arg1737Pro) c.1601G>C n.3260G>C c.4032G>C c.5237G>C (p.Arg1746Pro) n.975G>C c.5180G>C (p.Arg1727Pro) c.5246G>C (p.Arg1749Pro) c.5171G>C (p.Arg1724Pro) n.3026G>C c.5303G>C (p.Arg1768Pro) c.5249G>C (p.Arg1750Pro) c.5264G>C (p.Arg1755Pro) c.5174G>C (p.Arg1725Pro) c.5299G>C n.3462G>C c.5372G>C (p.Arg1791Pro) n.4193G>C n.2630G>C n.2601G>C n.2491G>C c.5033G>C (p.Arg1678Pro) c.*4545G>C (n.*4545G>C) c.5069G>C (p.Arg1690Pro) n.3101G>C c.1560G>C n.2493G>C c.5432G>C (p.Arg1811Pro) c.5429G>C (p.Arg1810Pro) c.5321G>C (p.Arg1774Pro) c.5300G>C (p.Arg1767Pro) c.4646G>C (p.Arg1549Pro) c.5594G>C (p.Arg1865Pro) c.5342G>C (p.Arg1781Pro) c.4088G>C (p.Arg1363Pro) | ClinVar dbSNP |
16 | g.2088564G= | CA2202034297 | TSC2 | c.*3727G= (n.*3727G=) c.5225G= (p.Arg1742=) c.5375G= (p.Arg1792=) c.*5891G= (n.*5891G=) c.*8127G= (n.*8127G=) c.5378G= (p.Arg1793=) c.5309G= (p.Arg1770=) c.5177G= (p.Arg1726=) c.5210G= (p.Arg1737=) c.1601G= n.3260G= c.4032G= c.5237G= (p.Arg1746=) n.975G= c.5180G= (p.Arg1727=) c.5246G= (p.Arg1749=) c.5171G= (p.Arg1724=) n.3026G= c.5303G= (p.Arg1768=) c.5249G= (p.Arg1750=) c.5264G= (p.Arg1755=) c.5174G= (p.Arg1725=) c.5299G= n.3462G= c.5372G= (p.Arg1791=) n.4193G= n.2630G= n.2601G= n.2491G= c.5033G= (p.Arg1678=) c.*4545G= (n.*4545G=) c.5069G= (p.Arg1690=) n.3101G= c.1560G= n.2493G= c.5432G= (p.Arg1811=) c.5429G= (p.Arg1810=) c.5321G= (p.Arg1774=) c.5300G= (p.Arg1767=) c.4646G= (p.Arg1549=) c.5594G= (p.Arg1865=) c.5342G= (p.Arg1781=) c.4088G= (p.Arg1363=) | |
16 | g.2088564G>T | CA394315974 | TSC2 | c.*3727G>T (n.*3727G>T) c.5225G>T (p.Arg1742Leu) c.5375G>T (p.Arg1792Leu) c.*5891G>T (n.*5891G>T) c.*8127G>T (n.*8127G>T) c.5378G>T (p.Arg1793Leu) c.5309G>T (p.Arg1770Leu) c.5177G>T (p.Arg1726Leu) c.5210G>T (p.Arg1737Leu) c.1601G>T n.3260G>T c.4032G>T c.5237G>T (p.Arg1746Leu) n.975G>T c.5180G>T (p.Arg1727Leu) c.5246G>T (p.Arg1749Leu) c.5171G>T (p.Arg1724Leu) n.3026G>T c.5303G>T (p.Arg1768Leu) c.5249G>T (p.Arg1750Leu) c.5264G>T (p.Arg1755Leu) c.5174G>T (p.Arg1725Leu) c.5299G>T n.3462G>T c.5372G>T (p.Arg1791Leu) n.4193G>T n.2630G>T n.2601G>T n.2491G>T c.5033G>T (p.Arg1678Leu) c.*4545G>T (n.*4545G>T) c.5069G>T (p.Arg1690Leu) n.3101G>T c.1560G>T n.2493G>T c.5432G>T (p.Arg1811Leu) c.5429G>T (p.Arg1810Leu) c.5321G>T (p.Arg1774Leu) c.5300G>T (p.Arg1767Leu) c.4646G>T (p.Arg1549Leu) c.5594G>T (p.Arg1865Leu) c.5342G>T (p.Arg1781Leu) c.4088G>T (p.Arg1363Leu) | |
16 | g.2088565G>A | CA055256 | TSC2 | c.*3728G>A (n.*3728G>A) c.5226G>A (p.Arg1742=) c.5376G>A (p.Arg1792=) c.*5892G>A (n.*5892G>A) c.*8128G>A (n.*8128G>A) c.5379G>A (p.Arg1793=) c.5310G>A (p.Arg1770=) c.5178G>A (p.Arg1726=) c.5211G>A (p.Arg1737=) c.1602G>A n.3261G>A c.4033G>A c.5238G>A (p.Arg1746=) n.976G>A c.5181G>A (p.Arg1727=) c.5247G>A (p.Arg1749=) c.5172G>A (p.Arg1724=) n.3027G>A c.5304G>A (p.Arg1768=) c.5250G>A (p.Arg1750=) c.5265G>A (p.Arg1755=) c.5175G>A (p.Arg1725=) c.5300G>A n.3463G>A c.5373G>A (p.Arg1791=) n.4194G>A n.2631G>A n.2602G>A n.2492G>A c.5034G>A (p.Arg1678=) c.*4546G>A (n.*4546G>A) c.5070G>A (p.Arg1690=) n.3102G>A c.1561G>A n.2494G>A c.5433G>A (p.Arg1811=) c.5430G>A (p.Arg1810=) c.5322G>A (p.Arg1774=) c.5301G>A (p.Arg1767=) c.4647G>A (p.Arg1549=) c.5595G>A (p.Arg1865=) c.5343G>A (p.Arg1781=) c.4089G>A (p.Arg1363=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088565G>C | CA493043777 | TSC2 | c.*3728G>C (n.*3728G>C) c.5226G>C (p.Arg1742=) c.5376G>C (p.Arg1792=) c.*5892G>C (n.*5892G>C) c.*8128G>C (n.*8128G>C) c.5379G>C (p.Arg1793=) c.5310G>C (p.Arg1770=) c.5178G>C (p.Arg1726=) c.5211G>C (p.Arg1737=) c.1602G>C n.3261G>C c.4033G>C c.5238G>C (p.Arg1746=) n.976G>C c.5181G>C (p.Arg1727=) c.5247G>C (p.Arg1749=) c.5172G>C (p.Arg1724=) n.3027G>C c.5304G>C (p.Arg1768=) c.5250G>C (p.Arg1750=) c.5265G>C (p.Arg1755=) c.5175G>C (p.Arg1725=) c.5300G>C n.3463G>C c.5373G>C (p.Arg1791=) n.4194G>C n.2631G>C n.2602G>C n.2492G>C c.5034G>C (p.Arg1678=) c.*4546G>C (n.*4546G>C) c.5070G>C (p.Arg1690=) n.3102G>C c.1561G>C n.2494G>C c.5433G>C (p.Arg1811=) c.5430G>C (p.Arg1810=) c.5322G>C (p.Arg1774=) c.5301G>C (p.Arg1767=) c.4647G>C (p.Arg1549=) c.5595G>C (p.Arg1865=) c.5343G>C (p.Arg1781=) c.4089G>C (p.Arg1363=) | gnomAD v4 |
16 | g.2088565G= | CA2202034308 | TSC2 | c.*3728G= (n.*3728G=) c.5226G= (p.Arg1742=) c.5376G= (p.Arg1792=) c.*5892G= (n.*5892G=) c.*8128G= (n.*8128G=) c.5379G= (p.Arg1793=) c.5310G= (p.Arg1770=) c.5178G= (p.Arg1726=) c.5211G= (p.Arg1737=) c.1602G= n.3261G= c.4033G= c.5238G= (p.Arg1746=) n.976G= c.5181G= (p.Arg1727=) c.5247G= (p.Arg1749=) c.5172G= (p.Arg1724=) n.3027G= c.5304G= (p.Arg1768=) c.5250G= (p.Arg1750=) c.5265G= (p.Arg1755=) c.5175G= (p.Arg1725=) c.5300G= n.3463G= c.5373G= (p.Arg1791=) n.4194G= n.2631G= n.2602G= n.2492G= c.5034G= (p.Arg1678=) c.*4546G= (n.*4546G=) c.5070G= (p.Arg1690=) n.3102G= c.1561G= n.2494G= c.5433G= (p.Arg1811=) c.5430G= (p.Arg1810=) c.5322G= (p.Arg1774=) c.5301G= (p.Arg1767=) c.4647G= (p.Arg1549=) c.5595G= (p.Arg1865=) c.5343G= (p.Arg1781=) c.4089G= (p.Arg1363=) | |
16 | g.2088565G>T | CA493043776 | TSC2 | c.*3728G>T (n.*3728G>T) c.5226G>T (p.Arg1742=) c.5376G>T (p.Arg1792=) c.*5892G>T (n.*5892G>T) c.*8128G>T (n.*8128G>T) c.5379G>T (p.Arg1793=) c.5310G>T (p.Arg1770=) c.5178G>T (p.Arg1726=) c.5211G>T (p.Arg1737=) c.1602G>T n.3261G>T c.4033G>T c.5238G>T (p.Arg1746=) n.976G>T c.5181G>T (p.Arg1727=) c.5247G>T (p.Arg1749=) c.5172G>T (p.Arg1724=) n.3027G>T c.5304G>T (p.Arg1768=) c.5250G>T (p.Arg1750=) c.5265G>T (p.Arg1755=) c.5175G>T (p.Arg1725=) c.5300G>T n.3463G>T c.5373G>T (p.Arg1791=) n.4194G>T n.2631G>T n.2602G>T n.2492G>T c.5034G>T (p.Arg1678=) c.*4546G>T (n.*4546G>T) c.5070G>T (p.Arg1690=) n.3102G>T c.1561G>T n.2494G>T c.5433G>T (p.Arg1811=) c.5430G>T (p.Arg1810=) c.5322G>T (p.Arg1774=) c.5301G>T (p.Arg1767=) c.4647G>T (p.Arg1549=) c.5595G>T (p.Arg1865=) c.5343G>T (p.Arg1781=) c.4089G>T (p.Arg1363=) | gnomAD v4 |
16 | g.2088566_2088568dup | CA022443 | TSC2 | c.*3729_*3731dup (n.*3729_*3731dup) c.5227_5229dup (p.Lys1743_Arg1744insLys) c.5377_5379dup (p.Lys1793_Arg1794insLys) c.*5893_*5895dup (n.*5893_*5895dup) c.*8129_*8131dup (n.*8129_*8131dup) c.5380_5382dup (p.Lys1794_Arg1795insLys) c.5311_5313dup (p.Lys1771_Arg1772insLys) c.5179_5181dup (p.Lys1727_Arg1728insLys) c.5212_5214dup (p.Lys1738_Arg1739insLys) c.1603_1605dup n.3262_3264dup c.4034_4036dup c.5239_5241dup (p.Lys1747_Arg1748insLys) n.977_979dup c.5182_5184dup (p.Lys1728_Arg1729insLys) c.5248_5250dup (p.Lys1750_Arg1751insLys) c.5173_5175dup (p.Lys1725_Arg1726insLys) n.3028_3030dup c.5305_5307dup (p.Lys1769_Arg1770insLys) c.5251_5253dup (p.Lys1751_Arg1752insLys) c.5266_5268dup (p.Lys1756_Arg1757insLys) c.5176_5178dup (p.Lys1726_Arg1727insLys) c.5301_5303dup n.3464_3466dup c.5374_5376dup (p.Lys1792_Arg1793insLys) n.4195_4197dup n.2632_2634dup n.2603_2605dup n.2493_2495dup c.5035_5037dup (p.Lys1679_Arg1680insLys) c.*4547_*4549dup (n.*4547_*4549dup) c.5071_5073dup (p.Lys1691_Arg1692insLys) n.3103_3105dup c.1562_1564dup n.2495_2497dup c.5434_5436dup (p.Lys1812_Arg1813insLys) c.5431_5433dup (p.Lys1811_Arg1812insLys) c.5323_5325dup (p.Lys1775_Arg1776insLys) c.5302_5304dup (p.Lys1768_Arg1769insLys) c.4648_4650dup (p.Lys1550_Arg1551insLys) c.5596_5598dup (p.Lys1866_Arg1867insLys) c.5344_5346dup (p.Lys1782_Arg1783insLys) c.4090_4092dup (p.Lys1364_Arg1365insLys) | ClinVar dbSNP gnomAD v4 |
16 | g.2088566A>C | CA394315983 | TSC2 | c.*3729A>C (n.*3729A>C) c.5227A>C (p.Lys1743Gln) c.5377A>C (p.Lys1793Gln) c.*5893A>C (n.*5893A>C) c.*8129A>C (n.*8129A>C) c.5380A>C (p.Lys1794Gln) c.5311A>C (p.Lys1771Gln) c.5179A>C (p.Lys1727Gln) c.5212A>C (p.Lys1738Gln) c.1603A>C n.3262A>C c.4034A>C c.5239A>C (p.Lys1747Gln) n.977A>C c.5182A>C (p.Lys1728Gln) c.5248A>C (p.Lys1750Gln) c.5173A>C (p.Lys1725Gln) n.3028A>C c.5305A>C (p.Lys1769Gln) c.5251A>C (p.Lys1751Gln) c.5266A>C (p.Lys1756Gln) c.5176A>C (p.Lys1726Gln) c.5301A>C n.3464A>C c.5374A>C (p.Lys1792Gln) n.4195A>C n.2632A>C n.2603A>C n.2493A>C c.5035A>C (p.Lys1679Gln) c.*4547A>C (n.*4547A>C) c.5071A>C (p.Lys1691Gln) n.3103A>C c.1562A>C n.2495A>C c.5434A>C (p.Lys1812Gln) c.5431A>C (p.Lys1811Gln) c.5323A>C (p.Lys1775Gln) c.5302A>C (p.Lys1768Gln) c.4648A>C (p.Lys1550Gln) c.5596A>C (p.Lys1866Gln) c.5344A>C (p.Lys1782Gln) c.4090A>C (p.Lys1364Gln) | ClinVar |
16 | g.2088566A>G | CA394315985 | TSC2 | c.*3729A>G (n.*3729A>G) c.5227A>G (p.Lys1743Glu) c.5377A>G (p.Lys1793Glu) c.*5893A>G (n.*5893A>G) c.*8129A>G (n.*8129A>G) c.5380A>G (p.Lys1794Glu) c.5311A>G (p.Lys1771Glu) c.5179A>G (p.Lys1727Glu) c.5212A>G (p.Lys1738Glu) c.1603A>G n.3262A>G c.4034A>G c.5239A>G (p.Lys1747Glu) n.977A>G c.5182A>G (p.Lys1728Glu) c.5248A>G (p.Lys1750Glu) c.5173A>G (p.Lys1725Glu) n.3028A>G c.5305A>G (p.Lys1769Glu) c.5251A>G (p.Lys1751Glu) c.5266A>G (p.Lys1756Glu) c.5176A>G (p.Lys1726Glu) c.5301A>G n.3464A>G c.5374A>G (p.Lys1792Glu) n.4195A>G n.2632A>G n.2603A>G n.2493A>G c.5035A>G (p.Lys1679Glu) c.*4547A>G (n.*4547A>G) c.5071A>G (p.Lys1691Glu) n.3103A>G c.1562A>G n.2495A>G c.5434A>G (p.Lys1812Glu) c.5431A>G (p.Lys1811Glu) c.5323A>G (p.Lys1775Glu) c.5302A>G (p.Lys1768Glu) c.4648A>G (p.Lys1550Glu) c.5596A>G (p.Lys1866Glu) c.5344A>G (p.Lys1782Glu) c.4090A>G (p.Lys1364Glu) | |
16 | g.2088566A>T | CA394315989 | TSC2 | c.*3729A>T (n.*3729A>T) c.5227A>T (p.Lys1743Ter) c.5377A>T (p.Lys1793Ter) c.*5893A>T (n.*5893A>T) c.*8129A>T (n.*8129A>T) c.5380A>T (p.Lys1794Ter) c.5311A>T (p.Lys1771Ter) c.5179A>T (p.Lys1727Ter) c.5212A>T (p.Lys1738Ter) c.1603A>T n.3262A>T c.4034A>T c.5239A>T (p.Lys1747Ter) n.977A>T c.5182A>T (p.Lys1728Ter) c.5248A>T (p.Lys1750Ter) c.5173A>T (p.Lys1725Ter) n.3028A>T c.5305A>T (p.Lys1769Ter) c.5251A>T (p.Lys1751Ter) c.5266A>T (p.Lys1756Ter) c.5176A>T (p.Lys1726Ter) c.5301A>T n.3464A>T c.5374A>T (p.Lys1792Ter) n.4195A>T n.2632A>T n.2603A>T n.2493A>T c.5035A>T (p.Lys1679Ter) c.*4547A>T (n.*4547A>T) c.5071A>T (p.Lys1691Ter) n.3103A>T c.1562A>T n.2495A>T c.5434A>T (p.Lys1812Ter) c.5431A>T (p.Lys1811Ter) c.5323A>T (p.Lys1775Ter) c.5302A>T (p.Lys1768Ter) c.4648A>T (p.Lys1550Ter) c.5596A>T (p.Lys1866Ter) c.5344A>T (p.Lys1782Ter) c.4090A>T (p.Lys1364Ter) | |
16 | g.2088567A= | CA2202034316 | TSC2 | c.*3730A= (n.*3730A=) c.5228A= (p.Lys1743=) c.5378A= (p.Lys1793=) c.*5894A= (n.*5894A=) c.*8130A= (n.*8130A=) c.5381A= (p.Lys1794=) c.5312A= (p.Lys1771=) c.5180A= (p.Lys1727=) c.5213A= (p.Lys1738=) c.1604A= n.3263A= c.4035A= c.5240A= (p.Lys1747=) n.978A= c.5183A= (p.Lys1728=) c.5249A= (p.Lys1750=) c.5174A= (p.Lys1725=) n.3029A= c.5306A= (p.Lys1769=) c.5252A= (p.Lys1751=) c.5267A= (p.Lys1756=) c.5177A= (p.Lys1726=) c.5302A= n.3465A= c.5375A= (p.Lys1792=) n.4196A= n.2633A= n.2604A= n.2494A= c.5036A= (p.Lys1679=) c.*4548A= (n.*4548A=) c.5072A= (p.Lys1691=) n.3104A= c.1563A= n.2496A= c.5435A= (p.Lys1812=) c.5432A= (p.Lys1811=) c.5324A= (p.Lys1775=) c.5303A= (p.Lys1768=) c.4649A= (p.Lys1550=) c.5597A= (p.Lys1866=) c.5345A= (p.Lys1782=) c.4091A= (p.Lys1364=) | |
16 | g.2088567A>C | CA394315998 | TSC2 | c.*3730A>C (n.*3730A>C) c.5228A>C (p.Lys1743Thr) c.5378A>C (p.Lys1793Thr) c.*5894A>C (n.*5894A>C) c.*8130A>C (n.*8130A>C) c.5381A>C (p.Lys1794Thr) c.5312A>C (p.Lys1771Thr) c.5180A>C (p.Lys1727Thr) c.5213A>C (p.Lys1738Thr) c.1604A>C n.3263A>C c.4035A>C c.5240A>C (p.Lys1747Thr) n.978A>C c.5183A>C (p.Lys1728Thr) c.5249A>C (p.Lys1750Thr) c.5174A>C (p.Lys1725Thr) n.3029A>C c.5306A>C (p.Lys1769Thr) c.5252A>C (p.Lys1751Thr) c.5267A>C (p.Lys1756Thr) c.5177A>C (p.Lys1726Thr) c.5302A>C n.3465A>C c.5375A>C (p.Lys1792Thr) n.4196A>C n.2633A>C n.2604A>C n.2494A>C c.5036A>C (p.Lys1679Thr) c.*4548A>C (n.*4548A>C) c.5072A>C (p.Lys1691Thr) n.3104A>C c.1563A>C n.2496A>C c.5435A>C (p.Lys1812Thr) c.5432A>C (p.Lys1811Thr) c.5324A>C (p.Lys1775Thr) c.5303A>C (p.Lys1768Thr) c.4649A>C (p.Lys1550Thr) c.5597A>C (p.Lys1866Thr) c.5345A>C (p.Lys1782Thr) c.4091A>C (p.Lys1364Thr) | ClinVar |
16 | g.2088567A>G | CA055265 | TSC2 | c.*3730A>G (n.*3730A>G) c.5228A>G (p.Lys1743Arg) c.5378A>G (p.Lys1793Arg) c.*5894A>G (n.*5894A>G) c.*8130A>G (n.*8130A>G) c.5381A>G (p.Lys1794Arg) c.5312A>G (p.Lys1771Arg) c.5180A>G (p.Lys1727Arg) c.5213A>G (p.Lys1738Arg) c.1604A>G n.3263A>G c.4035A>G c.5240A>G (p.Lys1747Arg) n.978A>G c.5183A>G (p.Lys1728Arg) c.5249A>G (p.Lys1750Arg) c.5174A>G (p.Lys1725Arg) n.3029A>G c.5306A>G (p.Lys1769Arg) c.5252A>G (p.Lys1751Arg) c.5267A>G (p.Lys1756Arg) c.5177A>G (p.Lys1726Arg) c.5302A>G n.3465A>G c.5375A>G (p.Lys1792Arg) n.4196A>G n.2633A>G n.2604A>G n.2494A>G c.5036A>G (p.Lys1679Arg) c.*4548A>G (n.*4548A>G) c.5072A>G (p.Lys1691Arg) n.3104A>G c.1563A>G n.2496A>G c.5435A>G (p.Lys1812Arg) c.5432A>G (p.Lys1811Arg) c.5324A>G (p.Lys1775Arg) c.5303A>G (p.Lys1768Arg) c.4649A>G (p.Lys1550Arg) c.5597A>G (p.Lys1866Arg) c.5345A>G (p.Lys1782Arg) c.4091A>G (p.Lys1364Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2088567A>T | CA394315996 | TSC2 | c.*3730A>T (n.*3730A>T) c.5228A>T (p.Lys1743Met) c.5378A>T (p.Lys1793Met) c.*5894A>T (n.*5894A>T) c.*8130A>T (n.*8130A>T) c.5381A>T (p.Lys1794Met) c.5312A>T (p.Lys1771Met) c.5180A>T (p.Lys1727Met) c.5213A>T (p.Lys1738Met) c.1604A>T n.3263A>T c.4035A>T c.5240A>T (p.Lys1747Met) n.978A>T c.5183A>T (p.Lys1728Met) c.5249A>T (p.Lys1750Met) c.5174A>T (p.Lys1725Met) n.3029A>T c.5306A>T (p.Lys1769Met) c.5252A>T (p.Lys1751Met) c.5267A>T (p.Lys1756Met) c.5177A>T (p.Lys1726Met) c.5302A>T n.3465A>T c.5375A>T (p.Lys1792Met) n.4196A>T n.2633A>T n.2604A>T n.2494A>T c.5036A>T (p.Lys1679Met) c.*4548A>T (n.*4548A>T) c.5072A>T (p.Lys1691Met) n.3104A>T c.1563A>T n.2496A>T c.5435A>T (p.Lys1812Met) c.5432A>T (p.Lys1811Met) c.5324A>T (p.Lys1775Met) c.5303A>T (p.Lys1768Met) c.4649A>T (p.Lys1550Met) c.5597A>T (p.Lys1866Met) c.5345A>T (p.Lys1782Met) c.4091A>T (p.Lys1364Met) | dbSNP |
16 | g.2088568G>A | CA493043782 | TSC2 | c.*3731G>A (n.*3731G>A) c.5229G>A (p.Lys1743=) c.5379G>A (p.Lys1793=) c.*5895G>A (n.*5895G>A) c.*8131G>A (n.*8131G>A) c.5382G>A (p.Lys1794=) c.5313G>A (p.Lys1771=) c.5181G>A (p.Lys1727=) c.5214G>A (p.Lys1738=) c.1605G>A n.3264G>A c.4036G>A c.5241G>A (p.Lys1747=) n.979G>A c.5184G>A (p.Lys1728=) c.5250G>A (p.Lys1750=) c.5175G>A (p.Lys1725=) n.3030G>A c.5307G>A (p.Lys1769=) c.5253G>A (p.Lys1751=) c.5268G>A (p.Lys1756=) c.5178G>A (p.Lys1726=) c.5303G>A n.3466G>A c.5376G>A (p.Lys1792=) n.4197G>A n.2634G>A n.2605G>A n.2495G>A c.5037G>A (p.Lys1679=) c.*4549G>A (n.*4549G>A) c.5073G>A (p.Lys1691=) n.3105G>A c.1564G>A n.2497G>A c.5436G>A (p.Lys1812=) c.5433G>A (p.Lys1811=) c.5325G>A (p.Lys1775=) c.5304G>A (p.Lys1768=) c.4650G>A (p.Lys1550=) c.5598G>A (p.Lys1866=) c.5346G>A (p.Lys1782=) c.4092G>A (p.Lys1364=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088568G>C | CA394316001 | TSC2 | c.*3731G>C (n.*3731G>C) c.5229G>C (p.Lys1743Asn) c.5379G>C (p.Lys1793Asn) c.*5895G>C (n.*5895G>C) c.*8131G>C (n.*8131G>C) c.5382G>C (p.Lys1794Asn) c.5313G>C (p.Lys1771Asn) c.5181G>C (p.Lys1727Asn) c.5214G>C (p.Lys1738Asn) c.1605G>C n.3264G>C c.4036G>C c.5241G>C (p.Lys1747Asn) n.979G>C c.5184G>C (p.Lys1728Asn) c.5250G>C (p.Lys1750Asn) c.5175G>C (p.Lys1725Asn) n.3030G>C c.5307G>C (p.Lys1769Asn) c.5253G>C (p.Lys1751Asn) c.5268G>C (p.Lys1756Asn) c.5178G>C (p.Lys1726Asn) c.5303G>C n.3466G>C c.5376G>C (p.Lys1792Asn) n.4197G>C n.2634G>C n.2605G>C n.2495G>C c.5037G>C (p.Lys1679Asn) c.*4549G>C (n.*4549G>C) c.5073G>C (p.Lys1691Asn) n.3105G>C c.1564G>C n.2497G>C c.5436G>C (p.Lys1812Asn) c.5433G>C (p.Lys1811Asn) c.5325G>C (p.Lys1775Asn) c.5304G>C (p.Lys1768Asn) c.4650G>C (p.Lys1550Asn) c.5598G>C (p.Lys1866Asn) c.5346G>C (p.Lys1782Asn) c.4092G>C (p.Lys1364Asn) | |
16 | g.2088568G= | CA2202034323 | TSC2 | c.*3731G= (n.*3731G=) c.5229G= (p.Lys1743=) c.5379G= (p.Lys1793=) c.*5895G= (n.*5895G=) c.*8131G= (n.*8131G=) c.5382G= (p.Lys1794=) c.5313G= (p.Lys1771=) c.5181G= (p.Lys1727=) c.5214G= (p.Lys1738=) c.1605G= n.3264G= c.4036G= c.5241G= (p.Lys1747=) n.979G= c.5184G= (p.Lys1728=) c.5250G= (p.Lys1750=) c.5175G= (p.Lys1725=) n.3030G= c.5307G= (p.Lys1769=) c.5253G= (p.Lys1751=) c.5268G= (p.Lys1756=) c.5178G= (p.Lys1726=) c.5303G= n.3466G= c.5376G= (p.Lys1792=) n.4197G= n.2634G= n.2605G= n.2495G= c.5037G= (p.Lys1679=) c.*4549G= (n.*4549G=) c.5073G= (p.Lys1691=) n.3105G= c.1564G= n.2497G= c.5436G= (p.Lys1812=) c.5433G= (p.Lys1811=) c.5325G= (p.Lys1775=) c.5304G= (p.Lys1768=) c.4650G= (p.Lys1550=) c.5598G= (p.Lys1866=) c.5346G= (p.Lys1782=) c.4092G= (p.Lys1364=) | |
16 | g.2088568G>T | CA394316003 | TSC2 | c.*3731G>T (n.*3731G>T) c.5229G>T (p.Lys1743Asn) c.5379G>T (p.Lys1793Asn) c.*5895G>T (n.*5895G>T) c.*8131G>T (n.*8131G>T) c.5382G>T (p.Lys1794Asn) c.5313G>T (p.Lys1771Asn) c.5181G>T (p.Lys1727Asn) c.5214G>T (p.Lys1738Asn) c.1605G>T n.3264G>T c.4036G>T c.5241G>T (p.Lys1747Asn) n.979G>T c.5184G>T (p.Lys1728Asn) c.5250G>T (p.Lys1750Asn) c.5175G>T (p.Lys1725Asn) n.3030G>T c.5307G>T (p.Lys1769Asn) c.5253G>T (p.Lys1751Asn) c.5268G>T (p.Lys1756Asn) c.5178G>T (p.Lys1726Asn) c.5303G>T n.3466G>T c.5376G>T (p.Lys1792Asn) n.4197G>T n.2634G>T n.2605G>T n.2495G>T c.5037G>T (p.Lys1679Asn) c.*4549G>T (n.*4549G>T) c.5073G>T (p.Lys1691Asn) n.3105G>T c.1564G>T n.2497G>T c.5436G>T (p.Lys1812Asn) c.5433G>T (p.Lys1811Asn) c.5325G>T (p.Lys1775Asn) c.5304G>T (p.Lys1768Asn) c.4650G>T (p.Lys1550Asn) c.5598G>T (p.Lys1866Asn) c.5346G>T (p.Lys1782Asn) c.4092G>T (p.Lys1364Asn) | |
16 | g.2088569C>A | CA394316006 | TSC2 | c.*3732C>A (n.*3732C>A) c.5230C>A (p.Arg1744Ser) c.5380C>A (p.Arg1794Ser) c.*5896C>A (n.*5896C>A) c.*8132C>A (n.*8132C>A) c.5383C>A (p.Arg1795Ser) c.5314C>A (p.Arg1772Ser) c.5182C>A (p.Arg1728Ser) c.5215C>A (p.Arg1739Ser) c.1606C>A n.3265C>A c.4037C>A c.5242C>A (p.Arg1748Ser) n.980C>A c.5185C>A (p.Arg1729Ser) c.5251C>A (p.Arg1751Ser) c.5176C>A (p.Arg1726Ser) n.3031C>A c.5308C>A (p.Arg1770Ser) c.5254C>A (p.Arg1752Ser) c.5269C>A (p.Arg1757Ser) c.5179C>A (p.Arg1727Ser) c.5304C>A n.3467C>A c.5377C>A (p.Arg1793Ser) n.4198C>A n.2635C>A n.2606C>A n.2496C>A c.5038C>A (p.Arg1680Ser) c.*4550C>A (n.*4550C>A) c.5074C>A (p.Arg1692Ser) n.3106C>A c.1565C>A n.2498C>A c.5437C>A (p.Arg1813Ser) c.5434C>A (p.Arg1812Ser) c.5326C>A (p.Arg1776Ser) c.5305C>A (p.Arg1769Ser) c.4651C>A (p.Arg1551Ser) c.5599C>A (p.Arg1867Ser) c.5347C>A (p.Arg1783Ser) c.4093C>A (p.Arg1365Ser) | |
16 | g.2088569C= | CA2202034339 | TSC2 | c.*3732C= (n.*3732C=) c.5230C= (p.Arg1744=) c.5380C= (p.Arg1794=) c.*5896C= (n.*5896C=) c.*8132C= (n.*8132C=) c.5383C= (p.Arg1795=) c.5314C= (p.Arg1772=) c.5182C= (p.Arg1728=) c.5215C= (p.Arg1739=) c.1606C= n.3265C= c.4037C= c.5242C= (p.Arg1748=) n.980C= c.5185C= (p.Arg1729=) c.5251C= (p.Arg1751=) c.5176C= (p.Arg1726=) n.3031C= c.5308C= (p.Arg1770=) c.5254C= (p.Arg1752=) c.5269C= (p.Arg1757=) c.5179C= (p.Arg1727=) c.5304C= n.3467C= c.5377C= (p.Arg1793=) n.4198C= n.2635C= n.2606C= n.2496C= c.5038C= (p.Arg1680=) c.*4550C= (n.*4550C=) c.5074C= (p.Arg1692=) n.3106C= c.1565C= n.2498C= c.5437C= (p.Arg1813=) c.5434C= (p.Arg1812=) c.5326C= (p.Arg1776=) c.5305C= (p.Arg1769=) c.4651C= (p.Arg1551=) c.5599C= (p.Arg1867=) c.5347C= (p.Arg1783=) c.4093C= (p.Arg1365=) | |
16 | g.2088569C>G | CA394316016 | TSC2 | c.*3732C>G (n.*3732C>G) c.5230C>G (p.Arg1744Gly) c.5380C>G (p.Arg1794Gly) c.*5896C>G (n.*5896C>G) c.*8132C>G (n.*8132C>G) c.5383C>G (p.Arg1795Gly) c.5314C>G (p.Arg1772Gly) c.5182C>G (p.Arg1728Gly) c.5215C>G (p.Arg1739Gly) c.1606C>G n.3265C>G c.4037C>G c.5242C>G (p.Arg1748Gly) n.980C>G c.5185C>G (p.Arg1729Gly) c.5251C>G (p.Arg1751Gly) c.5176C>G (p.Arg1726Gly) n.3031C>G c.5308C>G (p.Arg1770Gly) c.5254C>G (p.Arg1752Gly) c.5269C>G (p.Arg1757Gly) c.5179C>G (p.Arg1727Gly) c.5304C>G n.3467C>G c.5377C>G (p.Arg1793Gly) n.4198C>G n.2635C>G n.2606C>G n.2496C>G c.5038C>G (p.Arg1680Gly) c.*4550C>G (n.*4550C>G) c.5074C>G (p.Arg1692Gly) n.3106C>G c.1565C>G n.2498C>G c.5437C>G (p.Arg1813Gly) c.5434C>G (p.Arg1812Gly) c.5326C>G (p.Arg1776Gly) c.5305C>G (p.Arg1769Gly) c.4651C>G (p.Arg1551Gly) c.5599C>G (p.Arg1867Gly) c.5347C>G (p.Arg1783Gly) c.4093C>G (p.Arg1365Gly) | ClinVar dbSNP gnomAD v4 |
16 | g.2088569C>T | CA022447 | TSC2 | c.*3732C>T (n.*3732C>T) c.5230C>T (p.Arg1744Cys) c.5380C>T (p.Arg1794Cys) c.*5896C>T (n.*5896C>T) c.*8132C>T (n.*8132C>T) c.5383C>T (p.Arg1795Cys) c.5314C>T (p.Arg1772Cys) c.5182C>T (p.Arg1728Cys) c.5215C>T (p.Arg1739Cys) c.1606C>T n.3265C>T c.4037C>T c.5242C>T (p.Arg1748Cys) n.980C>T c.5185C>T (p.Arg1729Cys) c.5251C>T (p.Arg1751Cys) c.5176C>T (p.Arg1726Cys) n.3031C>T c.5308C>T (p.Arg1770Cys) c.5254C>T (p.Arg1752Cys) c.5269C>T (p.Arg1757Cys) c.5179C>T (p.Arg1727Cys) c.5304C>T n.3467C>T c.5377C>T (p.Arg1793Cys) n.4198C>T n.2635C>T n.2606C>T n.2496C>T c.5038C>T (p.Arg1680Cys) c.*4550C>T (n.*4550C>T) c.5074C>T (p.Arg1692Cys) n.3106C>T c.1565C>T n.2498C>T c.5437C>T (p.Arg1813Cys) c.5434C>T (p.Arg1812Cys) c.5326C>T (p.Arg1776Cys) c.5305C>T (p.Arg1769Cys) c.4651C>T (p.Arg1551Cys) c.5599C>T (p.Arg1867Cys) c.5347C>T (p.Arg1783Cys) c.4093C>T (p.Arg1365Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088570G>A | CA055272 | TSC2 | c.*3733G>A (n.*3733G>A) c.5231G>A (p.Arg1744His) c.5381G>A (p.Arg1794His) c.*5897G>A (n.*5897G>A) c.*8133G>A (n.*8133G>A) c.5384G>A (p.Arg1795His) c.5315G>A (p.Arg1772His) c.5183G>A (p.Arg1728His) c.5216G>A (p.Arg1739His) c.1607G>A n.3266G>A c.4038G>A c.5243G>A (p.Arg1748His) n.981G>A c.5186G>A (p.Arg1729His) c.5252G>A (p.Arg1751His) c.5177G>A (p.Arg1726His) n.3032G>A c.5309G>A (p.Arg1770His) c.5255G>A (p.Arg1752His) c.5270G>A (p.Arg1757His) c.5180G>A (p.Arg1727His) c.5305G>A n.3468G>A c.5378G>A (p.Arg1793His) n.4199G>A n.2636G>A n.2607G>A n.2497G>A c.5039G>A (p.Arg1680His) c.*4551G>A (n.*4551G>A) c.5075G>A (p.Arg1692His) n.3107G>A c.1566G>A n.2499G>A c.5438G>A (p.Arg1813His) c.5435G>A (p.Arg1812His) c.5327G>A (p.Arg1776His) c.5306G>A (p.Arg1769His) c.4652G>A (p.Arg1551His) c.5600G>A (p.Arg1867His) c.5348G>A (p.Arg1783His) c.4094G>A (p.Arg1365His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088570G>C | CA394316027 | TSC2 | c.*3733G>C (n.*3733G>C) c.5231G>C (p.Arg1744Pro) c.5381G>C (p.Arg1794Pro) c.*5897G>C (n.*5897G>C) c.*8133G>C (n.*8133G>C) c.5384G>C (p.Arg1795Pro) c.5315G>C (p.Arg1772Pro) c.5183G>C (p.Arg1728Pro) c.5216G>C (p.Arg1739Pro) c.1607G>C n.3266G>C c.4038G>C c.5243G>C (p.Arg1748Pro) n.981G>C c.5186G>C (p.Arg1729Pro) c.5252G>C (p.Arg1751Pro) c.5177G>C (p.Arg1726Pro) n.3032G>C c.5309G>C (p.Arg1770Pro) c.5255G>C (p.Arg1752Pro) c.5270G>C (p.Arg1757Pro) c.5180G>C (p.Arg1727Pro) c.5305G>C n.3468G>C c.5378G>C (p.Arg1793Pro) n.4199G>C n.2636G>C n.2607G>C n.2497G>C c.5039G>C (p.Arg1680Pro) c.*4551G>C (n.*4551G>C) c.5075G>C (p.Arg1692Pro) n.3107G>C c.1566G>C n.2499G>C c.5438G>C (p.Arg1813Pro) c.5435G>C (p.Arg1812Pro) c.5327G>C (p.Arg1776Pro) c.5306G>C (p.Arg1769Pro) c.4652G>C (p.Arg1551Pro) c.5600G>C (p.Arg1867Pro) c.5348G>C (p.Arg1783Pro) c.4094G>C (p.Arg1365Pro) | dbSNP gnomAD v4 |
16 | g.2088570G= | CA2202034346 | TSC2 | c.*3733G= (n.*3733G=) c.5231G= (p.Arg1744=) c.5381G= (p.Arg1794=) c.*5897G= (n.*5897G=) c.*8133G= (n.*8133G=) c.5384G= (p.Arg1795=) c.5315G= (p.Arg1772=) c.5183G= (p.Arg1728=) c.5216G= (p.Arg1739=) c.1607G= n.3266G= c.4038G= c.5243G= (p.Arg1748=) n.981G= c.5186G= (p.Arg1729=) c.5252G= (p.Arg1751=) c.5177G= (p.Arg1726=) n.3032G= c.5309G= (p.Arg1770=) c.5255G= (p.Arg1752=) c.5270G= (p.Arg1757=) c.5180G= (p.Arg1727=) c.5305G= n.3468G= c.5378G= (p.Arg1793=) n.4199G= n.2636G= n.2607G= n.2497G= c.5039G= (p.Arg1680=) c.*4551G= (n.*4551G=) c.5075G= (p.Arg1692=) n.3107G= c.1566G= n.2499G= c.5438G= (p.Arg1813=) c.5435G= (p.Arg1812=) c.5327G= (p.Arg1776=) c.5306G= (p.Arg1769=) c.4652G= (p.Arg1551=) c.5600G= (p.Arg1867=) c.5348G= (p.Arg1783=) c.4094G= (p.Arg1365=) | |
16 | g.2088570G>T | CA022452 | TSC2 | c.*3733G>T (n.*3733G>T) c.5231G>T (p.Arg1744Leu) c.5381G>T (p.Arg1794Leu) c.*5897G>T (n.*5897G>T) c.*8133G>T (n.*8133G>T) c.5384G>T (p.Arg1795Leu) c.5315G>T (p.Arg1772Leu) c.5183G>T (p.Arg1728Leu) c.5216G>T (p.Arg1739Leu) c.1607G>T n.3266G>T c.4038G>T c.5243G>T (p.Arg1748Leu) n.981G>T c.5186G>T (p.Arg1729Leu) c.5252G>T (p.Arg1751Leu) c.5177G>T (p.Arg1726Leu) n.3032G>T c.5309G>T (p.Arg1770Leu) c.5255G>T (p.Arg1752Leu) c.5270G>T (p.Arg1757Leu) c.5180G>T (p.Arg1727Leu) c.5305G>T n.3468G>T c.5378G>T (p.Arg1793Leu) n.4199G>T n.2636G>T n.2607G>T n.2497G>T c.5039G>T (p.Arg1680Leu) c.*4551G>T (n.*4551G>T) c.5075G>T (p.Arg1692Leu) n.3107G>T c.1566G>T n.2499G>T c.5438G>T (p.Arg1813Leu) c.5435G>T (p.Arg1812Leu) c.5327G>T (p.Arg1776Leu) c.5306G>T (p.Arg1769Leu) c.4652G>T (p.Arg1551Leu) c.5600G>T (p.Arg1867Leu) c.5348G>T (p.Arg1783Leu) c.4094G>T (p.Arg1365Leu) | ClinVar dbSNP gnomAD v4 |
16 | g.2088571C>A | CA493043784 | TSC2 | c.*3734C>A (n.*3734C>A) c.5232C>A (p.Arg1744=) c.5382C>A (p.Arg1794=) c.*5898C>A (n.*5898C>A) c.*8134C>A (n.*8134C>A) c.5385C>A (p.Arg1795=) c.5316C>A (p.Arg1772=) c.5184C>A (p.Arg1728=) c.5217C>A (p.Arg1739=) c.1608C>A n.3267C>A c.4039C>A c.5244C>A (p.Arg1748=) n.982C>A c.5187C>A (p.Arg1729=) c.5253C>A (p.Arg1751=) c.5178C>A (p.Arg1726=) n.3033C>A c.5310C>A (p.Arg1770=) c.5256C>A (p.Arg1752=) c.5271C>A (p.Arg1757=) c.5181C>A (p.Arg1727=) c.5306C>A n.3469C>A c.5379C>A (p.Arg1793=) n.4200C>A n.2637C>A n.2608C>A n.2498C>A c.5040C>A (p.Arg1680=) c.*4552C>A (n.*4552C>A) c.5076C>A (p.Arg1692=) n.3108C>A c.1567C>A n.2500C>A c.5439C>A (p.Arg1813=) c.5436C>A (p.Arg1812=) c.5328C>A (p.Arg1776=) c.5307C>A (p.Arg1769=) c.4653C>A (p.Arg1551=) c.5601C>A (p.Arg1867=) c.5349C>A (p.Arg1783=) c.4095C>A (p.Arg1365=) | ClinVar |
16 | g.2088571C>G | CA493043788 | TSC2 | c.*3734C>G (n.*3734C>G) c.5232C>G (p.Arg1744=) c.5382C>G (p.Arg1794=) c.*5898C>G (n.*5898C>G) c.*8134C>G (n.*8134C>G) c.5385C>G (p.Arg1795=) c.5316C>G (p.Arg1772=) c.5184C>G (p.Arg1728=) c.5217C>G (p.Arg1739=) c.1608C>G n.3267C>G c.4039C>G c.5244C>G (p.Arg1748=) n.982C>G c.5187C>G (p.Arg1729=) c.5253C>G (p.Arg1751=) c.5178C>G (p.Arg1726=) n.3033C>G c.5310C>G (p.Arg1770=) c.5256C>G (p.Arg1752=) c.5271C>G (p.Arg1757=) c.5181C>G (p.Arg1727=) c.5306C>G n.3469C>G c.5379C>G (p.Arg1793=) n.4200C>G n.2637C>G n.2608C>G n.2498C>G c.5040C>G (p.Arg1680=) c.*4552C>G (n.*4552C>G) c.5076C>G (p.Arg1692=) n.3108C>G c.1567C>G n.2500C>G c.5439C>G (p.Arg1813=) c.5436C>G (p.Arg1812=) c.5328C>G (p.Arg1776=) c.5307C>G (p.Arg1769=) c.4653C>G (p.Arg1551=) c.5601C>G (p.Arg1867=) c.5349C>G (p.Arg1783=) c.4095C>G (p.Arg1365=) | |
16 | g.2088571C>T | CA493043785 | TSC2 | c.*3734C>T (n.*3734C>T) c.5232C>T (p.Arg1744=) c.5382C>T (p.Arg1794=) c.*5898C>T (n.*5898C>T) c.*8134C>T (n.*8134C>T) c.5385C>T (p.Arg1795=) c.5316C>T (p.Arg1772=) c.5184C>T (p.Arg1728=) c.5217C>T (p.Arg1739=) c.1608C>T n.3267C>T c.4039C>T c.5244C>T (p.Arg1748=) n.982C>T c.5187C>T (p.Arg1729=) c.5253C>T (p.Arg1751=) c.5178C>T (p.Arg1726=) n.3033C>T c.5310C>T (p.Arg1770=) c.5256C>T (p.Arg1752=) c.5271C>T (p.Arg1757=) c.5181C>T (p.Arg1727=) c.5306C>T n.3469C>T c.5379C>T (p.Arg1793=) n.4200C>T n.2637C>T n.2608C>T n.2498C>T c.5040C>T (p.Arg1680=) c.*4552C>T (n.*4552C>T) c.5076C>T (p.Arg1692=) n.3108C>T c.1567C>T n.2500C>T c.5439C>T (p.Arg1813=) c.5436C>T (p.Arg1812=) c.5328C>T (p.Arg1776=) c.5307C>T (p.Arg1769=) c.4653C>T (p.Arg1551=) c.5601C>T (p.Arg1867=) c.5349C>T (p.Arg1783=) c.4095C>T (p.Arg1365=) | gnomAD v4 |
16 | g.2088572_2088574del | CA2631119858 | TSC2 | c.*3735_*3737del (n.*3735_*3737del) c.5233_5235del (p.Leu1745del) c.5383_5385del (p.Leu1795del) c.*5899_*5901del (n.*5899_*5901del) c.*8135_*8137del (n.*8135_*8137del) c.5386_5388del (p.Leu1796del) c.5317_5319del (p.Leu1773del) c.5185_5187del (p.Leu1729del) c.5218_5220del (p.Leu1740del) c.1609_1611del n.3268_3270del c.4040_4042del c.5245_5247del (p.Leu1749del) n.983_985del c.5188_5190del (p.Leu1730del) c.5254_5256del (p.Leu1752del) c.5179_5181del (p.Leu1727del) n.3034_3036del c.5311_5313del (p.Leu1771del) c.5257_5259del (p.Leu1753del) c.5272_5274del (p.Leu1758del) c.5182_5184del (p.Leu1728del) c.5307_5309del n.3470_3472del c.5380_5382del (p.Leu1794del) n.4201_4203del n.2638_2640del n.2609_2611del n.2499_2501del c.5041_5043del (p.Leu1681del) c.*4553_*4555del (n.*4553_*4555del) c.5077_5079del (p.Leu1693del) n.3109_3111del c.1568_1570del n.2501_2503del c.5440_5442del (p.Leu1814del) c.5437_5439del (p.Leu1813del) c.5329_5331del (p.Leu1777del) c.5308_5310del (p.Leu1770del) c.4654_4656del (p.Leu1552del) c.5602_5604del (p.Leu1868del) c.5350_5352del (p.Leu1784del) c.4096_4098del (p.Leu1366del) | gnomAD v4 |
16 | g.2088572C>A | CA022457 | TSC2 | c.*3735C>A (n.*3735C>A) c.5233C>A (p.Leu1745Ile) c.5383C>A (p.Leu1795Ile) c.*5899C>A (n.*5899C>A) c.*8135C>A (n.*8135C>A) c.5386C>A (p.Leu1796Ile) c.5317C>A (p.Leu1773Ile) c.5185C>A (p.Leu1729Ile) c.5218C>A (p.Leu1740Ile) c.1609C>A n.3268C>A c.4040C>A c.5245C>A (p.Leu1749Ile) n.983C>A c.5188C>A (p.Leu1730Ile) c.5254C>A (p.Leu1752Ile) c.5179C>A (p.Leu1727Ile) n.3034C>A c.5311C>A (p.Leu1771Ile) c.5257C>A (p.Leu1753Ile) c.5272C>A (p.Leu1758Ile) c.5182C>A (p.Leu1728Ile) c.5307C>A n.3470C>A c.5380C>A (p.Leu1794Ile) n.4201C>A n.2638C>A n.2609C>A n.2499C>A c.5041C>A (p.Leu1681Ile) c.*4553C>A (n.*4553C>A) c.5077C>A (p.Leu1693Ile) n.3109C>A c.1568C>A n.2501C>A c.5440C>A (p.Leu1814Ile) c.5437C>A (p.Leu1813Ile) c.5329C>A (p.Leu1777Ile) c.5308C>A (p.Leu1770Ile) c.4654C>A (p.Leu1552Ile) c.5602C>A (p.Leu1868Ile) c.5350C>A (p.Leu1784Ile) c.4096C>A (p.Leu1366Ile) | ClinVar dbSNP gnomAD v4 |
16 | g.2088572C= | CA2202034354 | TSC2 | c.*3735C= (n.*3735C=) c.5233C= (p.Leu1745=) c.5383C= (p.Leu1795=) c.*5899C= (n.*5899C=) c.*8135C= (n.*8135C=) c.5386C= (p.Leu1796=) c.5317C= (p.Leu1773=) c.5185C= (p.Leu1729=) c.5218C= (p.Leu1740=) c.1609C= n.3268C= c.4040C= c.5245C= (p.Leu1749=) n.983C= c.5188C= (p.Leu1730=) c.5254C= (p.Leu1752=) c.5179C= (p.Leu1727=) n.3034C= c.5311C= (p.Leu1771=) c.5257C= (p.Leu1753=) c.5272C= (p.Leu1758=) c.5182C= (p.Leu1728=) c.5307C= n.3470C= c.5380C= (p.Leu1794=) n.4201C= n.2638C= n.2609C= n.2499C= c.5041C= (p.Leu1681=) c.*4553C= (n.*4553C=) c.5077C= (p.Leu1693=) n.3109C= c.1568C= n.2501C= c.5440C= (p.Leu1814=) c.5437C= (p.Leu1813=) c.5329C= (p.Leu1777=) c.5308C= (p.Leu1770=) c.4654C= (p.Leu1552=) c.5602C= (p.Leu1868=) c.5350C= (p.Leu1784=) c.4096C= (p.Leu1366=) | |
16 | g.2088572C>G | CA394316034 | TSC2 | c.*3735C>G (n.*3735C>G) c.5233C>G (p.Leu1745Val) c.5383C>G (p.Leu1795Val) c.*5899C>G (n.*5899C>G) c.*8135C>G (n.*8135C>G) c.5386C>G (p.Leu1796Val) c.5317C>G (p.Leu1773Val) c.5185C>G (p.Leu1729Val) c.5218C>G (p.Leu1740Val) c.1609C>G n.3268C>G c.4040C>G c.5245C>G (p.Leu1749Val) n.983C>G c.5188C>G (p.Leu1730Val) c.5254C>G (p.Leu1752Val) c.5179C>G (p.Leu1727Val) n.3034C>G c.5311C>G (p.Leu1771Val) c.5257C>G (p.Leu1753Val) c.5272C>G (p.Leu1758Val) c.5182C>G (p.Leu1728Val) c.5307C>G n.3470C>G c.5380C>G (p.Leu1794Val) n.4201C>G n.2638C>G n.2609C>G n.2499C>G c.5041C>G (p.Leu1681Val) c.*4553C>G (n.*4553C>G) c.5077C>G (p.Leu1693Val) n.3109C>G c.1568C>G n.2501C>G c.5440C>G (p.Leu1814Val) c.5437C>G (p.Leu1813Val) c.5329C>G (p.Leu1777Val) c.5308C>G (p.Leu1770Val) c.4654C>G (p.Leu1552Val) c.5602C>G (p.Leu1868Val) c.5350C>G (p.Leu1784Val) c.4096C>G (p.Leu1366Val) | ClinVar dbSNP |
16 | g.2088572C>T | CA394316035 | TSC2 | c.*3735C>T (n.*3735C>T) c.5233C>T (p.Leu1745Phe) c.5383C>T (p.Leu1795Phe) c.*5899C>T (n.*5899C>T) c.*8135C>T (n.*8135C>T) c.5386C>T (p.Leu1796Phe) c.5317C>T (p.Leu1773Phe) c.5185C>T (p.Leu1729Phe) c.5218C>T (p.Leu1740Phe) c.1609C>T n.3268C>T c.4040C>T c.5245C>T (p.Leu1749Phe) n.983C>T c.5188C>T (p.Leu1730Phe) c.5254C>T (p.Leu1752Phe) c.5179C>T (p.Leu1727Phe) n.3034C>T c.5311C>T (p.Leu1771Phe) c.5257C>T (p.Leu1753Phe) c.5272C>T (p.Leu1758Phe) c.5182C>T (p.Leu1728Phe) c.5307C>T n.3470C>T c.5380C>T (p.Leu1794Phe) n.4201C>T n.2638C>T n.2609C>T n.2499C>T c.5041C>T (p.Leu1681Phe) c.*4553C>T (n.*4553C>T) c.5077C>T (p.Leu1693Phe) n.3109C>T c.1568C>T n.2501C>T c.5440C>T (p.Leu1814Phe) c.5437C>T (p.Leu1813Phe) c.5329C>T (p.Leu1777Phe) c.5308C>T (p.Leu1770Phe) c.4654C>T (p.Leu1552Phe) c.5602C>T (p.Leu1868Phe) c.5350C>T (p.Leu1784Phe) c.4096C>T (p.Leu1366Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088573T>A | CA394316040 | TSC2 | c.*3736T>A (n.*3736T>A) c.5234T>A (p.Leu1745His) c.5384T>A (p.Leu1795His) c.*5900T>A (n.*5900T>A) c.*8136T>A (n.*8136T>A) c.5387T>A (p.Leu1796His) c.5318T>A (p.Leu1773His) c.5186T>A (p.Leu1729His) c.5219T>A (p.Leu1740His) c.1610T>A n.3269T>A c.4041T>A c.5246T>A (p.Leu1749His) n.984T>A c.5189T>A (p.Leu1730His) c.5255T>A (p.Leu1752His) c.5180T>A (p.Leu1727His) n.3035T>A c.5312T>A (p.Leu1771His) c.5258T>A (p.Leu1753His) c.5273T>A (p.Leu1758His) c.5183T>A (p.Leu1728His) c.5308T>A n.3471T>A c.5381T>A (p.Leu1794His) n.4202T>A n.2639T>A n.2610T>A n.2500T>A c.5042T>A (p.Leu1681His) c.*4554T>A (n.*4554T>A) c.5078T>A (p.Leu1693His) n.3110T>A c.1569T>A n.2502T>A c.5441T>A (p.Leu1814His) c.5438T>A (p.Leu1813His) c.5330T>A (p.Leu1777His) c.5309T>A (p.Leu1770His) c.4655T>A (p.Leu1552His) c.5603T>A (p.Leu1868His) c.5351T>A (p.Leu1784His) c.4097T>A (p.Leu1366His) | |
16 | g.2088573T>C | CA394316041 | TSC2 | c.*3736T>C (n.*3736T>C) c.5234T>C (p.Leu1745Pro) c.5384T>C (p.Leu1795Pro) c.*5900T>C (n.*5900T>C) c.*8136T>C (n.*8136T>C) c.5387T>C (p.Leu1796Pro) c.5318T>C (p.Leu1773Pro) c.5186T>C (p.Leu1729Pro) c.5219T>C (p.Leu1740Pro) c.1610T>C n.3269T>C c.4041T>C c.5246T>C (p.Leu1749Pro) n.984T>C c.5189T>C (p.Leu1730Pro) c.5255T>C (p.Leu1752Pro) c.5180T>C (p.Leu1727Pro) n.3035T>C c.5312T>C (p.Leu1771Pro) c.5258T>C (p.Leu1753Pro) c.5273T>C (p.Leu1758Pro) c.5183T>C (p.Leu1728Pro) c.5308T>C n.3471T>C c.5381T>C (p.Leu1794Pro) n.4202T>C n.2639T>C n.2610T>C n.2500T>C c.5042T>C (p.Leu1681Pro) c.*4554T>C (n.*4554T>C) c.5078T>C (p.Leu1693Pro) n.3110T>C c.1569T>C n.2502T>C c.5441T>C (p.Leu1814Pro) c.5438T>C (p.Leu1813Pro) c.5330T>C (p.Leu1777Pro) c.5309T>C (p.Leu1770Pro) c.4655T>C (p.Leu1552Pro) c.5603T>C (p.Leu1868Pro) c.5351T>C (p.Leu1784Pro) c.4097T>C (p.Leu1366Pro) | |
16 | g.2088573T>G | CA394316042 | TSC2 | c.*3736T>G (n.*3736T>G) c.5234T>G (p.Leu1745Arg) c.5384T>G (p.Leu1795Arg) c.*5900T>G (n.*5900T>G) c.*8136T>G (n.*8136T>G) c.5387T>G (p.Leu1796Arg) c.5318T>G (p.Leu1773Arg) c.5186T>G (p.Leu1729Arg) c.5219T>G (p.Leu1740Arg) c.1610T>G n.3269T>G c.4041T>G c.5246T>G (p.Leu1749Arg) n.984T>G c.5189T>G (p.Leu1730Arg) c.5255T>G (p.Leu1752Arg) c.5180T>G (p.Leu1727Arg) n.3035T>G c.5312T>G (p.Leu1771Arg) c.5258T>G (p.Leu1753Arg) c.5273T>G (p.Leu1758Arg) c.5183T>G (p.Leu1728Arg) c.5308T>G n.3471T>G c.5381T>G (p.Leu1794Arg) n.4202T>G n.2639T>G n.2610T>G n.2500T>G c.5042T>G (p.Leu1681Arg) c.*4554T>G (n.*4554T>G) c.5078T>G (p.Leu1693Arg) n.3110T>G c.1569T>G n.2502T>G c.5441T>G (p.Leu1814Arg) c.5438T>G (p.Leu1813Arg) c.5330T>G (p.Leu1777Arg) c.5309T>G (p.Leu1770Arg) c.4655T>G (p.Leu1552Arg) c.5603T>G (p.Leu1868Arg) c.5351T>G (p.Leu1784Arg) c.4097T>G (p.Leu1366Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088573T= | CA2202034359 | TSC2 | c.*3736T= (n.*3736T=) c.5234T= (p.Leu1745=) c.5384T= (p.Leu1795=) c.*5900T= (n.*5900T=) c.*8136T= (n.*8136T=) c.5387T= (p.Leu1796=) c.5318T= (p.Leu1773=) c.5186T= (p.Leu1729=) c.5219T= (p.Leu1740=) c.1610T= n.3269T= c.4041T= c.5246T= (p.Leu1749=) n.984T= c.5189T= (p.Leu1730=) c.5255T= (p.Leu1752=) c.5180T= (p.Leu1727=) n.3035T= c.5312T= (p.Leu1771=) c.5258T= (p.Leu1753=) c.5273T= (p.Leu1758=) c.5183T= (p.Leu1728=) c.5308T= n.3471T= c.5381T= (p.Leu1794=) n.4202T= n.2639T= n.2610T= n.2500T= c.5042T= (p.Leu1681=) c.*4554T= (n.*4554T=) c.5078T= (p.Leu1693=) n.3110T= c.1569T= n.2502T= c.5441T= (p.Leu1814=) c.5438T= (p.Leu1813=) c.5330T= (p.Leu1777=) c.5309T= (p.Leu1770=) c.4655T= (p.Leu1552=) c.5603T= (p.Leu1868=) c.5351T= (p.Leu1784=) c.4097T= (p.Leu1366=) | |
16 | g.2088575_2088577dup | CA2580091208 | TSC2 | c.*3738_*3740dup (n.*3738_*3740dup) c.5236_5238dup (p.Ile1746_Ser1747insIle) c.5386_5388dup (p.Ile1796_Ser1797insIle) c.*5902_*5904dup (n.*5902_*5904dup) c.*8138_*8140dup (n.*8138_*8140dup) c.5389_5391dup (p.Ile1797_Ser1798insIle) c.5320_5322dup (p.Ile1774_Ser1775insIle) c.5188_5190dup (p.Ile1730_Ser1731insIle) c.5221_5223dup (p.Ile1741_Ser1742insIle) c.1612_1614dup n.3271_3273dup c.4043_4045dup c.5248_5250dup (p.Ile1750_Ser1751insIle) n.986_988dup c.5191_5193dup (p.Ile1731_Ser1732insIle) c.5257_5259dup (p.Ile1753_Ser1754insIle) c.5182_5184dup (p.Ile1728_Ser1729insIle) n.3037_3039dup c.5314_5316dup (p.Ile1772_Ser1773insIle) c.5260_5262dup (p.Ile1754_Ser1755insIle) c.5275_5277dup (p.Ile1759_Ser1760insIle) c.5185_5187dup (p.Ile1729_Ser1730insIle) c.5310_5312dup c.5383_5385dup (p.Ile1795_Ser1796insIle) n.4204_4206dup n.2641_2643dup n.2612_2614dup n.2502_2504dup c.5044_5046dup (p.Ile1682_Ser1683insIle) c.*4556_*4558dup (n.*4556_*4558dup) c.5080_5082dup (p.Ile1694_Ser1695insIle) n.3112_3114dup c.1571_1573dup n.2504_2506dup c.5443_5445dup (p.Ile1815_Ser1816insIle) c.5440_5442dup (p.Ile1814_Ser1815insIle) c.5332_5334dup (p.Ile1778_Ser1779insIle) c.5311_5313dup (p.Ile1771_Ser1772insIle) c.4657_4659dup (p.Ile1553_Ser1554insIle) c.5605_5607dup (p.Ile1869_Ser1870insIle) c.5353_5355dup (p.Ile1785_Ser1786insIle) c.4099_4101dup (p.Ile1367_Ser1368insIle) | ClinVar |
16 | g.2088574C>A | CA493043797 | TSC2 | c.*3737C>A (n.*3737C>A) c.5235C>A (p.Leu1745=) c.5385C>A (p.Leu1795=) c.*5901C>A (n.*5901C>A) c.*8137C>A (n.*8137C>A) c.5388C>A (p.Leu1796=) c.5319C>A (p.Leu1773=) c.5187C>A (p.Leu1729=) c.5220C>A (p.Leu1740=) c.1611C>A n.3270C>A c.4042C>A c.5247C>A (p.Leu1749=) n.985C>A c.5190C>A (p.Leu1730=) c.5256C>A (p.Leu1752=) c.5181C>A (p.Leu1727=) n.3036C>A c.5313C>A (p.Leu1771=) c.5259C>A (p.Leu1753=) c.5274C>A (p.Leu1758=) c.5184C>A (p.Leu1728=) c.5309C>A n.3472C>A c.5382C>A (p.Leu1794=) n.4203C>A n.2640C>A n.2611C>A n.2501C>A c.5043C>A (p.Leu1681=) c.*4555C>A (n.*4555C>A) c.5079C>A (p.Leu1693=) n.3111C>A c.1570C>A n.2503C>A c.5442C>A (p.Leu1814=) c.5439C>A (p.Leu1813=) c.5331C>A (p.Leu1777=) c.5310C>A (p.Leu1770=) c.4656C>A (p.Leu1552=) c.5604C>A (p.Leu1868=) c.5352C>A (p.Leu1784=) c.4098C>A (p.Leu1366=) | |
16 | g.2088574C= | CA2202034366 | TSC2 | c.*3737C= (n.*3737C=) c.5235C= (p.Leu1745=) c.5385C= (p.Leu1795=) c.*5901C= (n.*5901C=) c.*8137C= (n.*8137C=) c.5388C= (p.Leu1796=) c.5319C= (p.Leu1773=) c.5187C= (p.Leu1729=) c.5220C= (p.Leu1740=) c.1611C= n.3270C= c.4042C= c.5247C= (p.Leu1749=) n.985C= c.5190C= (p.Leu1730=) c.5256C= (p.Leu1752=) c.5181C= (p.Leu1727=) n.3036C= c.5313C= (p.Leu1771=) c.5259C= (p.Leu1753=) c.5274C= (p.Leu1758=) c.5184C= (p.Leu1728=) c.5309C= n.3472C= c.5382C= (p.Leu1794=) n.4203C= n.2640C= n.2611C= n.2501C= c.5043C= (p.Leu1681=) c.*4555C= (n.*4555C=) c.5079C= (p.Leu1693=) n.3111C= c.1570C= n.2503C= c.5442C= (p.Leu1814=) c.5439C= (p.Leu1813=) c.5331C= (p.Leu1777=) c.5310C= (p.Leu1770=) c.4656C= (p.Leu1552=) c.5604C= (p.Leu1868=) c.5352C= (p.Leu1784=) c.4098C= (p.Leu1366=) | |
16 | g.2088574C>G | CA493043796 | TSC2 | c.*3737C>G (n.*3737C>G) c.5235C>G (p.Leu1745=) c.5385C>G (p.Leu1795=) c.*5901C>G (n.*5901C>G) c.*8137C>G (n.*8137C>G) c.5388C>G (p.Leu1796=) c.5319C>G (p.Leu1773=) c.5187C>G (p.Leu1729=) c.5220C>G (p.Leu1740=) c.1611C>G n.3270C>G c.4042C>G c.5247C>G (p.Leu1749=) n.985C>G c.5190C>G (p.Leu1730=) c.5256C>G (p.Leu1752=) c.5181C>G (p.Leu1727=) n.3036C>G c.5313C>G (p.Leu1771=) c.5259C>G (p.Leu1753=) c.5274C>G (p.Leu1758=) c.5184C>G (p.Leu1728=) c.5309C>G n.3472C>G c.5382C>G (p.Leu1794=) n.4203C>G n.2640C>G n.2611C>G n.2501C>G c.5043C>G (p.Leu1681=) c.*4555C>G (n.*4555C>G) c.5079C>G (p.Leu1693=) n.3111C>G c.1570C>G n.2503C>G c.5442C>G (p.Leu1814=) c.5439C>G (p.Leu1813=) c.5331C>G (p.Leu1777=) c.5310C>G (p.Leu1770=) c.4656C>G (p.Leu1552=) c.5604C>G (p.Leu1868=) c.5352C>G (p.Leu1784=) c.4098C>G (p.Leu1366=) | gnomAD v4 COSMIC COSMIC |
16 | g.2088574C>T | CA493043795 | TSC2 | c.*3737C>T (n.*3737C>T) c.5235C>T (p.Leu1745=) c.5385C>T (p.Leu1795=) c.*5901C>T (n.*5901C>T) c.*8137C>T (n.*8137C>T) c.5388C>T (p.Leu1796=) c.5319C>T (p.Leu1773=) c.5187C>T (p.Leu1729=) c.5220C>T (p.Leu1740=) c.1611C>T n.3270C>T c.4042C>T c.5247C>T (p.Leu1749=) n.985C>T c.5190C>T (p.Leu1730=) c.5256C>T (p.Leu1752=) c.5181C>T (p.Leu1727=) n.3036C>T c.5313C>T (p.Leu1771=) c.5259C>T (p.Leu1753=) c.5274C>T (p.Leu1758=) c.5184C>T (p.Leu1728=) c.5309C>T n.3472C>T c.5382C>T (p.Leu1794=) n.4203C>T n.2640C>T n.2611C>T n.2501C>T c.5043C>T (p.Leu1681=) c.*4555C>T (n.*4555C>T) c.5079C>T (p.Leu1693=) n.3111C>T c.1570C>T n.2503C>T c.5442C>T (p.Leu1814=) c.5439C>T (p.Leu1813=) c.5331C>T (p.Leu1777=) c.5310C>T (p.Leu1770=) c.4656C>T (p.Leu1552=) c.5604C>T (p.Leu1868=) c.5352C>T (p.Leu1784=) c.4098C>T (p.Leu1366=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088574dup | CA022461 | TSC2 | c.*3737dup (n.*3737dup) c.5235dup (p.Ile1746HisfsTer?) c.5385dup (p.Ile1796HisfsTer?) c.*5901dup (n.*5901dup) c.*8137dup (n.*8137dup) c.5388dup (p.Ile1797HisfsTer?) c.5319dup (p.Ile1774HisfsTer?) c.5187dup (p.Ile1730HisfsTer?) c.5220dup (p.Ile1741HisfsTer?) c.1611dup n.3270dup c.4042dup c.5247dup (p.Ile1750HisfsTer?) n.985dup c.5190dup (p.Ile1731HisfsTer?) c.5256dup (p.Ile1753HisfsTer?) c.5181dup (p.Ile1728HisfsTer?) n.3036dup c.5313dup (p.Ile1772HisfsTer?) c.5259dup (p.Ile1754HisfsTer?) c.5274dup (p.Ile1759HisfsTer?) c.5184dup (p.Ile1729HisfsTer?) c.5309dup n.3472dup c.5382dup (p.Ile1795HisfsTer?) n.4203dup n.2640dup n.2611dup n.2501dup c.5043dup (p.Ile1682HisfsTer?) c.*4555dup (n.*4555dup) c.5079dup (p.Ile1694HisfsTer?) n.3111dup c.1570dup n.2503dup c.5442dup (p.Ile1815HisfsTer?) c.5439dup (p.Ile1814HisfsTer?) c.5331dup (p.Ile1778HisfsTer?) c.5310dup (p.Ile1771HisfsTer?) c.4656dup (p.Ile1553HisfsTer?) c.5604dup (p.Ile1869HisfsTer?) c.5352dup (p.Ile1785HisfsTer?) c.4098dup (p.Ile1367HisfsTer?) | ClinVar dbSNP |
16 | g.2088575A= | CA2202034375 | TSC2 | c.*3738A= (n.*3738A=) c.5236A= (p.Ile1746=) c.5386A= (p.Ile1796=) c.*5902A= (n.*5902A=) c.*8138A= (n.*8138A=) c.5389A= (p.Ile1797=) c.5320A= (p.Ile1774=) c.5188A= (p.Ile1730=) c.5221A= (p.Ile1741=) c.1612A= n.3271A= c.4043A= c.5248A= (p.Ile1750=) n.986A= c.5191A= (p.Ile1731=) c.5257A= (p.Ile1753=) c.5182A= (p.Ile1728=) n.3037A= c.5314A= (p.Ile1772=) c.5260A= (p.Ile1754=) c.5275A= (p.Ile1759=) c.5185A= (p.Ile1729=) c.5310A= n.3473A= c.5383A= (p.Ile1795=) n.4204A= n.2641A= n.2612A= n.2502A= c.5044A= (p.Ile1682=) c.*4556A= (n.*4556A=) c.5080A= (p.Ile1694=) n.3112A= c.1571A= n.2504A= c.5443A= (p.Ile1815=) c.5440A= (p.Ile1814=) c.5332A= (p.Ile1778=) c.5311A= (p.Ile1771=) c.4657A= (p.Ile1553=) c.5605A= (p.Ile1869=) c.5353A= (p.Ile1785=) c.4099A= (p.Ile1367=) | |
16 | g.2088575A>C | CA319402 | TSC2 | c.*3738A>C (n.*3738A>C) c.5236A>C (p.Ile1746Leu) c.5386A>C (p.Ile1796Leu) c.*5902A>C (n.*5902A>C) c.*8138A>C (n.*8138A>C) c.5389A>C (p.Ile1797Leu) c.5320A>C (p.Ile1774Leu) c.5188A>C (p.Ile1730Leu) c.5221A>C (p.Ile1741Leu) c.1612A>C n.3271A>C c.4043A>C c.5248A>C (p.Ile1750Leu) n.986A>C c.5191A>C (p.Ile1731Leu) c.5257A>C (p.Ile1753Leu) c.5182A>C (p.Ile1728Leu) n.3037A>C c.5314A>C (p.Ile1772Leu) c.5260A>C (p.Ile1754Leu) c.5275A>C (p.Ile1759Leu) c.5185A>C (p.Ile1729Leu) c.5310A>C n.3473A>C c.5383A>C (p.Ile1795Leu) n.4204A>C n.2641A>C n.2612A>C n.2502A>C c.5044A>C (p.Ile1682Leu) c.*4556A>C (n.*4556A>C) c.5080A>C (p.Ile1694Leu) n.3112A>C c.1571A>C n.2504A>C c.5443A>C (p.Ile1815Leu) c.5440A>C (p.Ile1814Leu) c.5332A>C (p.Ile1778Leu) c.5311A>C (p.Ile1771Leu) c.4657A>C (p.Ile1553Leu) c.5605A>C (p.Ile1869Leu) c.5353A>C (p.Ile1785Leu) c.4099A>C (p.Ile1367Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.2088575A>G | CA394316067 | TSC2 | c.*3738A>G (n.*3738A>G) c.5236A>G (p.Ile1746Val) c.5386A>G (p.Ile1796Val) c.*5902A>G (n.*5902A>G) c.*8138A>G (n.*8138A>G) c.5389A>G (p.Ile1797Val) c.5320A>G (p.Ile1774Val) c.5188A>G (p.Ile1730Val) c.5221A>G (p.Ile1741Val) c.1612A>G n.3271A>G c.4043A>G c.5248A>G (p.Ile1750Val) n.986A>G c.5191A>G (p.Ile1731Val) c.5257A>G (p.Ile1753Val) c.5182A>G (p.Ile1728Val) n.3037A>G c.5314A>G (p.Ile1772Val) c.5260A>G (p.Ile1754Val) c.5275A>G (p.Ile1759Val) c.5185A>G (p.Ile1729Val) c.5310A>G n.3473A>G c.5383A>G (p.Ile1795Val) n.4204A>G n.2641A>G n.2612A>G n.2502A>G c.5044A>G (p.Ile1682Val) c.*4556A>G (n.*4556A>G) c.5080A>G (p.Ile1694Val) n.3112A>G c.1571A>G n.2504A>G c.5443A>G (p.Ile1815Val) c.5440A>G (p.Ile1814Val) c.5332A>G (p.Ile1778Val) c.5311A>G (p.Ile1771Val) c.4657A>G (p.Ile1553Val) c.5605A>G (p.Ile1869Val) c.5353A>G (p.Ile1785Val) c.4099A>G (p.Ile1367Val) | gnomAD v4 |
16 | g.2088575A>T | CA394316052 | TSC2 | c.*3738A>T (n.*3738A>T) c.5236A>T (p.Ile1746Phe) c.5386A>T (p.Ile1796Phe) c.*5902A>T (n.*5902A>T) c.*8138A>T (n.*8138A>T) c.5389A>T (p.Ile1797Phe) c.5320A>T (p.Ile1774Phe) c.5188A>T (p.Ile1730Phe) c.5221A>T (p.Ile1741Phe) c.1612A>T n.3271A>T c.4043A>T c.5248A>T (p.Ile1750Phe) n.986A>T c.5191A>T (p.Ile1731Phe) c.5257A>T (p.Ile1753Phe) c.5182A>T (p.Ile1728Phe) n.3037A>T c.5314A>T (p.Ile1772Phe) c.5260A>T (p.Ile1754Phe) c.5275A>T (p.Ile1759Phe) c.5185A>T (p.Ile1729Phe) c.5310A>T n.3473A>T c.5383A>T (p.Ile1795Phe) n.4204A>T n.2641A>T n.2612A>T n.2502A>T c.5044A>T (p.Ile1682Phe) c.*4556A>T (n.*4556A>T) c.5080A>T (p.Ile1694Phe) n.3112A>T c.1571A>T n.2504A>T c.5443A>T (p.Ile1815Phe) c.5440A>T (p.Ile1814Phe) c.5332A>T (p.Ile1778Phe) c.5311A>T (p.Ile1771Phe) c.4657A>T (p.Ile1553Phe) c.5605A>T (p.Ile1869Phe) c.5353A>T (p.Ile1785Phe) c.4099A>T (p.Ile1367Phe) | |
16 | g.2088575_2088578dup | CA645294082 | TSC2 | c.*3738_*3741dup (n.*3738_*3741dup) c.5236_5239dup (p.Ser1747TyrfsTer?) c.5386_5389dup (p.Ser1797TyrfsTer?) c.*5902_*5905dup (n.*5902_*5905dup) c.*8138_*8141dup (n.*8138_*8141dup) c.5389_5392dup (p.Ser1798TyrfsTer?) c.5320_5323dup (p.Ser1775TyrfsTer?) c.5188_5191dup (p.Ser1731TyrfsTer?) c.5221_5224dup (p.Ser1742TyrfsTer?) c.1612_1615dup n.3271_3274dup c.4043_4046dup c.5248_5251dup (p.Ser1751TyrfsTer?) n.986_989dup c.5191_5194dup (p.Ser1732TyrfsTer?) c.5257_5260dup (p.Ser1754TyrfsTer?) c.5182_5185dup (p.Ser1729TyrfsTer?) n.3037_3040dup c.5314_5317dup (p.Ser1773TyrfsTer?) c.5260_5263dup (p.Ser1755TyrfsTer?) c.5275_5278dup (p.Ser1760TyrfsTer?) c.5185_5188dup (p.Ser1730TyrfsTer?) c.5310_5313dup c.5383_5386dup (p.Ser1796TyrfsTer?) n.4204_4207dup n.2641_2644dup n.2612_2615dup n.2502_2505dup c.5044_5047dup (p.Ser1683TyrfsTer?) c.*4556_*4559dup (n.*4556_*4559dup) c.5080_5083dup (p.Ser1695TyrfsTer?) n.3112_3115dup c.1571_1574dup n.2504_2507dup c.5443_5446dup (p.Ser1816TyrfsTer?) c.5440_5443dup (p.Ser1815TyrfsTer?) c.5332_5335dup (p.Ser1779TyrfsTer?) c.5311_5314dup (p.Ser1772TyrfsTer?) c.4657_4660dup (p.Ser1554TyrfsTer?) c.5605_5608dup (p.Ser1870TyrfsTer?) c.5353_5356dup (p.Ser1786TyrfsTer?) c.4099_4102dup (p.Ser1368TyrfsTer?) | ClinVar dbSNP |
16 | g.2088576T>A | CA394316071 | TSC2 | c.*3739T>A (n.*3739T>A) c.5237T>A (p.Ile1746Asn) c.5387T>A (p.Ile1796Asn) c.*5903T>A (n.*5903T>A) c.*8139T>A (n.*8139T>A) c.5390T>A (p.Ile1797Asn) c.5321T>A (p.Ile1774Asn) c.5189T>A (p.Ile1730Asn) c.5222T>A (p.Ile1741Asn) c.1613T>A n.3272T>A c.4044T>A c.5249T>A (p.Ile1750Asn) n.987T>A c.5192T>A (p.Ile1731Asn) c.5258T>A (p.Ile1753Asn) c.5183T>A (p.Ile1728Asn) n.3038T>A c.5315T>A (p.Ile1772Asn) c.5261T>A (p.Ile1754Asn) c.5276T>A (p.Ile1759Asn) c.5186T>A (p.Ile1729Asn) c.5311T>A n.3474T>A c.5384T>A (p.Ile1795Asn) n.4205T>A n.2642T>A n.2613T>A n.2503T>A c.5045T>A (p.Ile1682Asn) c.*4557T>A (n.*4557T>A) c.5081T>A (p.Ile1694Asn) n.3113T>A c.1572T>A n.2505T>A c.5444T>A (p.Ile1815Asn) c.5441T>A (p.Ile1814Asn) c.5333T>A (p.Ile1778Asn) c.5312T>A (p.Ile1771Asn) c.4658T>A (p.Ile1553Asn) c.5606T>A (p.Ile1869Asn) c.5354T>A (p.Ile1785Asn) c.4100T>A (p.Ile1367Asn) | |
16 | g.2088576T>C | CA394316073 | TSC2 | c.*3739T>C (n.*3739T>C) c.5237T>C (p.Ile1746Thr) c.5387T>C (p.Ile1796Thr) c.*5903T>C (n.*5903T>C) c.*8139T>C (n.*8139T>C) c.5390T>C (p.Ile1797Thr) c.5321T>C (p.Ile1774Thr) c.5189T>C (p.Ile1730Thr) c.5222T>C (p.Ile1741Thr) c.1613T>C n.3272T>C c.4044T>C c.5249T>C (p.Ile1750Thr) n.987T>C c.5192T>C (p.Ile1731Thr) c.5258T>C (p.Ile1753Thr) c.5183T>C (p.Ile1728Thr) n.3038T>C c.5315T>C (p.Ile1772Thr) c.5261T>C (p.Ile1754Thr) c.5276T>C (p.Ile1759Thr) c.5186T>C (p.Ile1729Thr) c.5311T>C n.3474T>C c.5384T>C (p.Ile1795Thr) n.4205T>C n.2642T>C n.2613T>C n.2503T>C c.5045T>C (p.Ile1682Thr) c.*4557T>C (n.*4557T>C) c.5081T>C (p.Ile1694Thr) n.3113T>C c.1572T>C n.2505T>C c.5444T>C (p.Ile1815Thr) c.5441T>C (p.Ile1814Thr) c.5333T>C (p.Ile1778Thr) c.5312T>C (p.Ile1771Thr) c.4658T>C (p.Ile1553Thr) c.5606T>C (p.Ile1869Thr) c.5354T>C (p.Ile1785Thr) c.4100T>C (p.Ile1367Thr) | ClinVar dbSNP |
16 | g.2088576T>G | CA394316074 | TSC2 | c.*3739T>G (n.*3739T>G) c.5237T>G (p.Ile1746Ser) c.5387T>G (p.Ile1796Ser) c.*5903T>G (n.*5903T>G) c.*8139T>G (n.*8139T>G) c.5390T>G (p.Ile1797Ser) c.5321T>G (p.Ile1774Ser) c.5189T>G (p.Ile1730Ser) c.5222T>G (p.Ile1741Ser) c.1613T>G n.3272T>G c.4044T>G c.5249T>G (p.Ile1750Ser) n.987T>G c.5192T>G (p.Ile1731Ser) c.5258T>G (p.Ile1753Ser) c.5183T>G (p.Ile1728Ser) n.3038T>G c.5315T>G (p.Ile1772Ser) c.5261T>G (p.Ile1754Ser) c.5276T>G (p.Ile1759Ser) c.5186T>G (p.Ile1729Ser) c.5311T>G n.3474T>G c.5384T>G (p.Ile1795Ser) n.4205T>G n.2642T>G n.2613T>G n.2503T>G c.5045T>G (p.Ile1682Ser) c.*4557T>G (n.*4557T>G) c.5081T>G (p.Ile1694Ser) n.3113T>G c.1572T>G n.2505T>G c.5444T>G (p.Ile1815Ser) c.5441T>G (p.Ile1814Ser) c.5333T>G (p.Ile1778Ser) c.5312T>G (p.Ile1771Ser) c.4658T>G (p.Ile1553Ser) c.5606T>G (p.Ile1869Ser) c.5354T>G (p.Ile1785Ser) c.4100T>G (p.Ile1367Ser) | ClinVar |
16 | g.2088576_2088579delinsTCTC | CA2202034387 | TSC2 | c.*3739_*3742delinsTCTC (n.*3739_*3742delinsTCTC) c.5237_5240delinsTCTC (p.Ile1746=) c.5387_5390delinsTCTC (p.Ile1796=) c.*5903_*5906delinsTCTC (n.*5903_*5906delinsTCTC) c.*8139_*8142delinsTCTC (n.*8139_*8142delinsTCTC) c.5390_5393delinsTCTC (p.Ile1797=) c.5321_5324delinsTCTC (p.Ile1774=) c.5189_5192delinsTCTC (p.Ile1730=) c.5222_5225delinsTCTC (p.Ile1741=) c.1613_1616delinsTCTC n.3272_3275delinsTCTC c.4044_4047delinsTCTC c.5249_5252delinsTCTC (p.Ile1750=) n.987_990delinsTCTC c.5192_5195delinsTCTC (p.Ile1731=) c.5258_5261delinsTCTC (p.Ile1753=) c.5183_5186delinsTCTC (p.Ile1728=) n.3038_3041delinsTCTC c.5315_5318delinsTCTC (p.Ile1772=) c.5261_5264delinsTCTC (p.Ile1754=) c.5276_5279delinsTCTC (p.Ile1759=) c.5186_5189delinsTCTC (p.Ile1729=) c.5311_5314delinsTCTC c.5384_5387delinsTCTC (p.Ile1795=) n.4205_4208delinsTCTC n.2642_2645delinsTCTC n.2613_2616delinsTCTC n.2503_2506delinsTCTC c.5045_5048delinsTCTC (p.Ile1682=) c.*4557_*4560delinsTCTC (n.*4557_*4560delinsTCTC) c.5081_5084delinsTCTC (p.Ile1694=) n.3113_3116delinsTCTC c.1572_1575delinsTCTC n.2505_2508delinsTCTC c.5444_5447delinsTCTC (p.Ile1815=) c.5441_5444delinsTCTC (p.Ile1814=) c.5333_5336delinsTCTC (p.Ile1778=) c.5312_5315delinsTCTC (p.Ile1771=) c.4658_4661delinsTCTC (p.Ile1553=) c.5606_5609delinsTCTC (p.Ile1869=) c.5354_5357delinsTCTC (p.Ile1785=) c.4100_4103delinsTCTC (p.Ile1367=) | |
16 | g.2088577C>A | CA493043804 | TSC2 | c.*3740C>A (n.*3740C>A) c.5238C>A (p.Ile1746=) c.5388C>A (p.Ile1796=) c.*5904C>A (n.*5904C>A) c.*8140C>A (n.*8140C>A) c.5391C>A (p.Ile1797=) c.5322C>A (p.Ile1774=) c.5190C>A (p.Ile1730=) c.5223C>A (p.Ile1741=) c.1614C>A n.3273C>A c.4045C>A c.5250C>A (p.Ile1750=) n.988C>A c.5193C>A (p.Ile1731=) c.5259C>A (p.Ile1753=) c.5184C>A (p.Ile1728=) n.3039C>A c.5316C>A (p.Ile1772=) c.5262C>A (p.Ile1754=) c.5277C>A (p.Ile1759=) c.5187C>A (p.Ile1729=) c.5312C>A n.3475C>A c.5385C>A (p.Ile1795=) n.4206C>A n.2643C>A n.2614C>A n.2504C>A c.5046C>A (p.Ile1682=) c.*4558C>A (n.*4558C>A) c.5082C>A (p.Ile1694=) n.3114C>A c.1573C>A n.2506C>A c.5445C>A (p.Ile1815=) c.5442C>A (p.Ile1814=) c.5334C>A (p.Ile1778=) c.5313C>A (p.Ile1771=) c.4659C>A (p.Ile1553=) c.5607C>A (p.Ile1869=) c.5355C>A (p.Ile1785=) c.4101C>A (p.Ile1367=) | dbSNP gnomAD v4 |
16 | g.2088577C= | CA2202034402 | TSC2 | c.*3740C= (n.*3740C=) c.5238C= (p.Ile1746=) c.5388C= (p.Ile1796=) c.*5904C= (n.*5904C=) c.*8140C= (n.*8140C=) c.5391C= (p.Ile1797=) c.5322C= (p.Ile1774=) c.5190C= (p.Ile1730=) c.5223C= (p.Ile1741=) c.1614C= n.3273C= c.4045C= c.5250C= (p.Ile1750=) n.988C= c.5193C= (p.Ile1731=) c.5259C= (p.Ile1753=) c.5184C= (p.Ile1728=) n.3039C= c.5316C= (p.Ile1772=) c.5262C= (p.Ile1754=) c.5277C= (p.Ile1759=) c.5187C= (p.Ile1729=) c.5312C= n.3475C= c.5385C= (p.Ile1795=) n.4206C= n.2643C= n.2614C= n.2504C= c.5046C= (p.Ile1682=) c.*4558C= (n.*4558C=) c.5082C= (p.Ile1694=) n.3114C= c.1573C= n.2506C= c.5445C= (p.Ile1815=) c.5442C= (p.Ile1814=) c.5334C= (p.Ile1778=) c.5313C= (p.Ile1771=) c.4659C= (p.Ile1553=) c.5607C= (p.Ile1869=) c.5355C= (p.Ile1785=) c.4101C= (p.Ile1367=) | |
16 | g.2088577C>G | CA055292 | TSC2 | c.*3740C>G (n.*3740C>G) c.5238C>G (p.Ile1746Met) c.5388C>G (p.Ile1796Met) c.*5904C>G (n.*5904C>G) c.*8140C>G (n.*8140C>G) c.5391C>G (p.Ile1797Met) c.5322C>G (p.Ile1774Met) c.5190C>G (p.Ile1730Met) c.5223C>G (p.Ile1741Met) c.1614C>G n.3273C>G c.4045C>G c.5250C>G (p.Ile1750Met) n.988C>G c.5193C>G (p.Ile1731Met) c.5259C>G (p.Ile1753Met) c.5184C>G (p.Ile1728Met) n.3039C>G c.5316C>G (p.Ile1772Met) c.5262C>G (p.Ile1754Met) c.5277C>G (p.Ile1759Met) c.5187C>G (p.Ile1729Met) c.5312C>G n.3475C>G c.5385C>G (p.Ile1795Met) n.4206C>G n.2643C>G n.2614C>G n.2504C>G c.5046C>G (p.Ile1682Met) c.*4558C>G (n.*4558C>G) c.5082C>G (p.Ile1694Met) n.3114C>G c.1573C>G n.2506C>G c.5445C>G (p.Ile1815Met) c.5442C>G (p.Ile1814Met) c.5334C>G (p.Ile1778Met) c.5313C>G (p.Ile1771Met) c.4659C>G (p.Ile1553Met) c.5607C>G (p.Ile1869Met) c.5355C>G (p.Ile1785Met) c.4101C>G (p.Ile1367Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088577C>T | CA493043808 | TSC2 | c.*3740C>T (n.*3740C>T) c.5238C>T (p.Ile1746=) c.5388C>T (p.Ile1796=) c.*5904C>T (n.*5904C>T) c.*8140C>T (n.*8140C>T) c.5391C>T (p.Ile1797=) c.5322C>T (p.Ile1774=) c.5190C>T (p.Ile1730=) c.5223C>T (p.Ile1741=) c.1614C>T n.3273C>T c.4045C>T c.5250C>T (p.Ile1750=) n.988C>T c.5193C>T (p.Ile1731=) c.5259C>T (p.Ile1753=) c.5184C>T (p.Ile1728=) n.3039C>T c.5316C>T (p.Ile1772=) c.5262C>T (p.Ile1754=) c.5277C>T (p.Ile1759=) c.5187C>T (p.Ile1729=) c.5312C>T n.3475C>T c.5385C>T (p.Ile1795=) n.4206C>T n.2643C>T n.2614C>T n.2504C>T c.5046C>T (p.Ile1682=) c.*4558C>T (n.*4558C>T) c.5082C>T (p.Ile1694=) n.3114C>T c.1573C>T n.2506C>T c.5445C>T (p.Ile1815=) c.5442C>T (p.Ile1814=) c.5334C>T (p.Ile1778=) c.5313C>T (p.Ile1771=) c.4659C>T (p.Ile1553=) c.5607C>T (p.Ile1869=) c.5355C>T (p.Ile1785=) c.4101C>T (p.Ile1367=) | ClinVar dbSNP gnomAD v4 |
16 | g.2088580_2088582del | CA055284 | TSC2 | c.*3743_*3745del (n.*3743_*3745del) c.5241_5243del (p.Ser1748del) c.5391_5393del (p.Ser1798del) c.*5907_*5909del (n.*5907_*5909del) c.*8143_*8145del (n.*8143_*8145del) c.5394_5396del (p.Ser1799del) c.5325_5327del (p.Ser1776del) c.5193_5195del (p.Ser1732del) c.5226_5228del (p.Ser1743del) c.1617_1619del n.3276_3278del c.4048_4050del c.5253_5255del (p.Ser1752del) n.991_993del c.5196_5198del (p.Ser1733del) c.5262_5264del (p.Ser1755del) c.5187_5189del (p.Ser1730del) n.3042_3044del c.5319_5321del (p.Ser1774del) c.5265_5267del (p.Ser1756del) c.5280_5282del (p.Ser1761del) c.5190_5192del (p.Ser1731del) c.5315_5317del c.5388_5390del (p.Ser1797del) n.4209_4211del n.2646_2648del n.2617_2619del n.2507_2509del c.5049_5051del (p.Ser1684del) c.*4561_*4563del (n.*4561_*4563del) c.5085_5087del (p.Ser1696del) n.3117_3119del c.1576_1578del n.2509_2511del c.5448_5450del (p.Ser1817del) c.5445_5447del (p.Ser1816del) c.5337_5339del (p.Ser1780del) c.5316_5318del (p.Ser1773del) c.4662_4664del (p.Ser1555del) c.5610_5612del (p.Ser1871del) c.5358_5360del (p.Ser1787del) c.4104_4106del (p.Ser1369del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088578T>A | CA394316084 | TSC2 | c.*3741T>A (n.*3741T>A) c.5239T>A (p.Ser1747Thr) c.5389T>A (p.Ser1797Thr) c.*5905T>A (n.*5905T>A) c.*8141T>A (n.*8141T>A) c.5392T>A (p.Ser1798Thr) c.5323T>A (p.Ser1775Thr) c.5191T>A (p.Ser1731Thr) c.5224T>A (p.Ser1742Thr) c.1615T>A n.3274T>A c.4046T>A c.5251T>A (p.Ser1751Thr) n.989T>A c.5194T>A (p.Ser1732Thr) c.5260T>A (p.Ser1754Thr) c.5185T>A (p.Ser1729Thr) n.3040T>A c.5317T>A (p.Ser1773Thr) c.5263T>A (p.Ser1755Thr) c.5278T>A (p.Ser1760Thr) c.5188T>A (p.Ser1730Thr) c.5313T>A c.5386T>A (p.Ser1796Thr) n.4207T>A n.2644T>A n.2615T>A n.2505T>A c.5047T>A (p.Ser1683Thr) c.*4559T>A (n.*4559T>A) c.5083T>A (p.Ser1695Thr) n.3115T>A c.1574T>A n.2507T>A c.5446T>A (p.Ser1816Thr) c.5443T>A (p.Ser1815Thr) c.5335T>A (p.Ser1779Thr) c.5314T>A (p.Ser1772Thr) c.4660T>A (p.Ser1554Thr) c.5608T>A (p.Ser1870Thr) c.5356T>A (p.Ser1786Thr) c.4102T>A (p.Ser1368Thr) | ClinVar |
16 | g.2088578T>C | CA394316091 | TSC2 | c.*3741T>C (n.*3741T>C) c.5239T>C (p.Ser1747Pro) c.5389T>C (p.Ser1797Pro) c.*5905T>C (n.*5905T>C) c.*8141T>C (n.*8141T>C) c.5392T>C (p.Ser1798Pro) c.5323T>C (p.Ser1775Pro) c.5191T>C (p.Ser1731Pro) c.5224T>C (p.Ser1742Pro) c.1615T>C n.3274T>C c.4046T>C c.5251T>C (p.Ser1751Pro) n.989T>C c.5194T>C (p.Ser1732Pro) c.5260T>C (p.Ser1754Pro) c.5185T>C (p.Ser1729Pro) n.3040T>C c.5317T>C (p.Ser1773Pro) c.5263T>C (p.Ser1755Pro) c.5278T>C (p.Ser1760Pro) c.5188T>C (p.Ser1730Pro) c.5313T>C c.5386T>C (p.Ser1796Pro) n.4207T>C n.2644T>C n.2615T>C n.2505T>C c.5047T>C (p.Ser1683Pro) c.*4559T>C (n.*4559T>C) c.5083T>C (p.Ser1695Pro) n.3115T>C c.1574T>C n.2507T>C c.5446T>C (p.Ser1816Pro) c.5443T>C (p.Ser1815Pro) c.5335T>C (p.Ser1779Pro) c.5314T>C (p.Ser1772Pro) c.4660T>C (p.Ser1554Pro) c.5608T>C (p.Ser1870Pro) c.5356T>C (p.Ser1786Pro) c.4102T>C (p.Ser1368Pro) | |
16 | g.2088578T>G | CA394316096 | TSC2 | c.*3741T>G (n.*3741T>G) c.5239T>G (p.Ser1747Ala) c.5389T>G (p.Ser1797Ala) c.*5905T>G (n.*5905T>G) c.*8141T>G (n.*8141T>G) c.5392T>G (p.Ser1798Ala) c.5323T>G (p.Ser1775Ala) c.5191T>G (p.Ser1731Ala) c.5224T>G (p.Ser1742Ala) c.1615T>G n.3274T>G c.4046T>G c.5251T>G (p.Ser1751Ala) n.989T>G c.5194T>G (p.Ser1732Ala) c.5260T>G (p.Ser1754Ala) c.5185T>G (p.Ser1729Ala) n.3040T>G c.5317T>G (p.Ser1773Ala) c.5263T>G (p.Ser1755Ala) c.5278T>G (p.Ser1760Ala) c.5188T>G (p.Ser1730Ala) c.5313T>G c.5386T>G (p.Ser1796Ala) n.4207T>G n.2644T>G n.2615T>G n.2505T>G c.5047T>G (p.Ser1683Ala) c.*4559T>G (n.*4559T>G) c.5083T>G (p.Ser1695Ala) n.3115T>G c.1574T>G n.2507T>G c.5446T>G (p.Ser1816Ala) c.5443T>G (p.Ser1815Ala) c.5335T>G (p.Ser1779Ala) c.5314T>G (p.Ser1772Ala) c.4660T>G (p.Ser1554Ala) c.5608T>G (p.Ser1870Ala) c.5356T>G (p.Ser1786Ala) c.4102T>G (p.Ser1368Ala) | ClinVar dbSNP |
16 | g.2088578T= | CA2202034410 | TSC2 | c.*3741T= (n.*3741T=) c.5239T= (p.Ser1747=) c.5389T= (p.Ser1797=) c.*5905T= (n.*5905T=) c.*8141T= (n.*8141T=) c.5392T= (p.Ser1798=) c.5323T= (p.Ser1775=) c.5191T= (p.Ser1731=) c.5224T= (p.Ser1742=) c.1615T= n.3274T= c.4046T= c.5251T= (p.Ser1751=) n.989T= c.5194T= (p.Ser1732=) c.5260T= (p.Ser1754=) c.5185T= (p.Ser1729=) n.3040T= c.5317T= (p.Ser1773=) c.5263T= (p.Ser1755=) c.5278T= (p.Ser1760=) c.5188T= (p.Ser1730=) c.5313T= c.5386T= (p.Ser1796=) n.4207T= n.2644T= n.2615T= n.2505T= c.5047T= (p.Ser1683=) c.*4559T= (n.*4559T=) c.5083T= (p.Ser1695=) n.3115T= c.1574T= n.2507T= c.5446T= (p.Ser1816=) c.5443T= (p.Ser1815=) c.5335T= (p.Ser1779=) c.5314T= (p.Ser1772=) c.4660T= (p.Ser1554=) c.5608T= (p.Ser1870=) c.5356T= (p.Ser1786=) c.4102T= (p.Ser1368=) | |
16 | g.2088578_2088667delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA | CA2202034407 | TSC2 | c.*3741_*3830delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA (n.*3741_*3830delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA) c.5239_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA (n.[c.5239_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA;Ser1747=]) c.5389_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA (n.[c.5389_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA;Ser1797=]) c.*5905_*5994delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA (n.*5905_*5994delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA) c.*8141_*8230delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA (n.*8141_*8230delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA) c.5392_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA (n.[c.5392_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA;Ser1798=]) c.5323_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA (n.[c.5323_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA;Ser1775=]) c.5191_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA (n.[c.5191_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA;Ser1731=]) c.5224_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA (n.[c.5224_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA;Ser1742=]) c.1615_1704delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA n.3274_3363delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA c.5251_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA (n.[c.5251_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA;Ser1751=]) n.989_1078delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA c.5194_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA (n.[c.5194_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA;Ser1732=]) c.5260_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA (n.[c.5260_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA;Ser1754=]) c.5185_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA (n.[c.5185_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA;Ser1729=]) c.5317_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA (n.[c.5317_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA;Ser1773=]) c.5263_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA (n.[c.5263_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA;Ser1755=]) c.5278_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA (n.[c.5278_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA;Ser1760=]) c.5188_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA (n.[c.5188_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA;Ser1730=]) c.5313_5402delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA c.5386_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA (n.[c.5386_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA;Ser1796=]) n.4207_4296delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA n.2615_2704delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA n.2505_2594delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA c.5047_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA (n.[c.5047_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA;Ser1683=]) c.*4559_*4648delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA (n.*4559_*4648delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA) c.5083_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA (n.[c.5083_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA;Ser1695=]) n.3115_3204delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA c.1574_1663delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA n.2507_2596delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA c.5446_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA (n.[c.5446_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA;Ser1816=]) c.5443_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA (n.[c.5443_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA;Ser1815=]) c.5335_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA (n.[c.5335_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA;Ser1779=]) c.5314_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA (n.[c.5314_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA;Ser1772=]) c.4660_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA (n.[c.4660_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA;Ser1554=]) c.5608_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA (n.[c.5608_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA;Ser1870=]) c.5356_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA (n.[c.5356_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA;Ser1786=]) c.4102_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA (n.[c.4102_*57delinsTCCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA;Ser1368=]) | |
16 | g.2088579C>A | CA394316103 | TSC2 | c.*3742C>A (n.*3742C>A) c.5240C>A (p.Ser1747Tyr) c.5390C>A (p.Ser1797Tyr) c.*5906C>A (n.*5906C>A) c.*8142C>A (n.*8142C>A) c.5393C>A (p.Ser1798Tyr) c.5324C>A (p.Ser1775Tyr) c.5192C>A (p.Ser1731Tyr) c.5225C>A (p.Ser1742Tyr) c.1616C>A n.3275C>A c.4047C>A c.5252C>A (p.Ser1751Tyr) n.990C>A c.5195C>A (p.Ser1732Tyr) c.5261C>A (p.Ser1754Tyr) c.5186C>A (p.Ser1729Tyr) n.3041C>A c.5318C>A (p.Ser1773Tyr) c.5264C>A (p.Ser1755Tyr) c.5279C>A (p.Ser1760Tyr) c.5189C>A (p.Ser1730Tyr) c.5314C>A c.5387C>A (p.Ser1796Tyr) n.4208C>A n.2645C>A n.2616C>A n.2506C>A c.5048C>A (p.Ser1683Tyr) c.*4560C>A (n.*4560C>A) c.5084C>A (p.Ser1695Tyr) n.3116C>A c.1575C>A n.2508C>A c.5447C>A (p.Ser1816Tyr) c.5444C>A (p.Ser1815Tyr) c.5336C>A (p.Ser1779Tyr) c.5315C>A (p.Ser1772Tyr) c.4661C>A (p.Ser1554Tyr) c.5609C>A (p.Ser1870Tyr) c.5357C>A (p.Ser1786Tyr) c.4103C>A (p.Ser1368Tyr) | gnomAD v4 |
16 | g.2088579C= | CA2202034425 | TSC2 | c.*3742C= (n.*3742C=) c.5240C= (p.Ser1747=) c.5390C= (p.Ser1797=) c.*5906C= (n.*5906C=) c.*8142C= (n.*8142C=) c.5393C= (p.Ser1798=) c.5324C= (p.Ser1775=) c.5192C= (p.Ser1731=) c.5225C= (p.Ser1742=) c.1616C= n.3275C= c.4047C= c.5252C= (p.Ser1751=) n.990C= c.5195C= (p.Ser1732=) c.5261C= (p.Ser1754=) c.5186C= (p.Ser1729=) n.3041C= c.5318C= (p.Ser1773=) c.5264C= (p.Ser1755=) c.5279C= (p.Ser1760=) c.5189C= (p.Ser1730=) c.5314C= c.5387C= (p.Ser1796=) n.4208C= n.2645C= n.2616C= n.2506C= c.5048C= (p.Ser1683=) c.*4560C= (n.*4560C=) c.5084C= (p.Ser1695=) n.3116C= c.1575C= n.2508C= c.5447C= (p.Ser1816=) c.5444C= (p.Ser1815=) c.5336C= (p.Ser1779=) c.5315C= (p.Ser1772=) c.4661C= (p.Ser1554=) c.5609C= (p.Ser1870=) c.5357C= (p.Ser1786=) c.4103C= (p.Ser1368=) | |
16 | g.2088579C>G | CA394316106 | TSC2 | c.*3742C>G (n.*3742C>G) c.5240C>G (p.Ser1747Cys) c.5390C>G (p.Ser1797Cys) c.*5906C>G (n.*5906C>G) c.*8142C>G (n.*8142C>G) c.5393C>G (p.Ser1798Cys) c.5324C>G (p.Ser1775Cys) c.5192C>G (p.Ser1731Cys) c.5225C>G (p.Ser1742Cys) c.1616C>G n.3275C>G c.4047C>G c.5252C>G (p.Ser1751Cys) n.990C>G c.5195C>G (p.Ser1732Cys) c.5261C>G (p.Ser1754Cys) c.5186C>G (p.Ser1729Cys) n.3041C>G c.5318C>G (p.Ser1773Cys) c.5264C>G (p.Ser1755Cys) c.5279C>G (p.Ser1760Cys) c.5189C>G (p.Ser1730Cys) c.5314C>G c.5387C>G (p.Ser1796Cys) n.4208C>G n.2645C>G n.2616C>G n.2506C>G c.5048C>G (p.Ser1683Cys) c.*4560C>G (n.*4560C>G) c.5084C>G (p.Ser1695Cys) n.3116C>G c.1575C>G n.2508C>G c.5447C>G (p.Ser1816Cys) c.5444C>G (p.Ser1815Cys) c.5336C>G (p.Ser1779Cys) c.5315C>G (p.Ser1772Cys) c.4661C>G (p.Ser1554Cys) c.5609C>G (p.Ser1870Cys) c.5357C>G (p.Ser1786Cys) c.4103C>G (p.Ser1368Cys) | |
16 | g.2088579C>T | CA394316110 | TSC2 | c.*3742C>T (n.*3742C>T) c.5240C>T (p.Ser1747Phe) c.5390C>T (p.Ser1797Phe) c.*5906C>T (n.*5906C>T) c.*8142C>T (n.*8142C>T) c.5393C>T (p.Ser1798Phe) c.5324C>T (p.Ser1775Phe) c.5192C>T (p.Ser1731Phe) c.5225C>T (p.Ser1742Phe) c.1616C>T n.3275C>T c.4047C>T c.5252C>T (p.Ser1751Phe) n.990C>T c.5195C>T (p.Ser1732Phe) c.5261C>T (p.Ser1754Phe) c.5186C>T (p.Ser1729Phe) n.3041C>T c.5318C>T (p.Ser1773Phe) c.5264C>T (p.Ser1755Phe) c.5279C>T (p.Ser1760Phe) c.5189C>T (p.Ser1730Phe) c.5314C>T c.5387C>T (p.Ser1796Phe) n.4208C>T n.2645C>T n.2616C>T n.2506C>T c.5048C>T (p.Ser1683Phe) c.*4560C>T (n.*4560C>T) c.5084C>T (p.Ser1695Phe) n.3116C>T c.1575C>T n.2508C>T c.5447C>T (p.Ser1816Phe) c.5444C>T (p.Ser1815Phe) c.5336C>T (p.Ser1779Phe) c.5315C>T (p.Ser1772Phe) c.4661C>T (p.Ser1554Phe) c.5609C>T (p.Ser1870Phe) c.5357C>T (p.Ser1786Phe) c.4103C>T (p.Ser1368Phe) | ClinVar dbSNP COSMIC COSMIC |
16 | g.2088579_2088667del | CA891844206 | TSC2 | c.*3742_*3830del (n.*3742_*3830del) c.5240_*57del (n.[c.5240_*57del;Ser1747TyrfsTer?]) c.5390_*57del (n.[c.5390_*57del;Ser1797TyrfsTer?]) c.*5906_*5994del (n.*5906_*5994del) c.*8142_*8230del (n.*8142_*8230del) c.5393_*57del (n.[c.5393_*57del;Ser1798TyrfsTer?]) c.5324_*57del (n.[c.5324_*57del;Ser1775TyrfsTer?]) c.5192_*57del (n.[c.5192_*57del;Ser1731TyrfsTer?]) c.5225_*57del (n.[c.5225_*57del;Ser1742TyrfsTer?]) c.1616_1704del n.3275_3363del c.5252_*57del (n.[c.5252_*57del;Ser1751TyrfsTer?]) n.990_1078del c.5195_*57del (n.[c.5195_*57del;Ser1732TyrfsTer?]) c.5261_*57del (n.[c.5261_*57del;Ser1754TyrfsTer?]) c.5186_*57del (n.[c.5186_*57del;Ser1729TyrfsTer?]) c.5318_*57del (n.[c.5318_*57del;Ser1773TyrfsTer?]) c.5264_*57del (n.[c.5264_*57del;Ser1755TyrfsTer?]) c.5279_*57del (n.[c.5279_*57del;Ser1760TyrfsTer?]) c.5189_*57del (n.[c.5189_*57del;Ser1730TyrfsTer?]) c.5314_5402del c.5387_*57del (n.[c.5387_*57del;Ser1796TyrfsTer?]) n.4208_4296del n.2616_2704del n.2506_2594del c.5048_*57del (n.[c.5048_*57del;Ser1683TyrfsTer?]) c.*4560_*4648del (n.*4560_*4648del) c.5084_*57del (n.[c.5084_*57del;Ser1695TyrfsTer?]) n.3116_3204del c.1575_1663del n.2508_2596del c.5447_*57del (n.[c.5447_*57del;Ser1816TyrfsTer?]) c.5444_*57del (n.[c.5444_*57del;Ser1815TyrfsTer?]) c.5336_*57del (n.[c.5336_*57del;Ser1779TyrfsTer?]) c.5315_*57del (n.[c.5315_*57del;Ser1772TyrfsTer?]) c.4661_*57del (n.[c.4661_*57del;Ser1554TyrfsTer?]) c.5609_*57del (n.[c.5609_*57del;Ser1870TyrfsTer?]) c.5357_*57del (n.[c.5357_*57del;Ser1786TyrfsTer?]) c.4103_*57del (n.[c.4103_*57del;Ser1368TyrfsTer?]) | ClinVar dbSNP |
16 | g.2088580C>A | CA493043816 | TSC2 | c.*3743C>A (n.*3743C>A) c.5241C>A (p.Ser1747=) c.5391C>A (p.Ser1797=) c.*5907C>A (n.*5907C>A) c.*8143C>A (n.*8143C>A) c.5394C>A (p.Ser1798=) c.5325C>A (p.Ser1775=) c.5193C>A (p.Ser1731=) c.5226C>A (p.Ser1742=) c.1617C>A n.3276C>A c.4048C>A c.5253C>A (p.Ser1751=) n.991C>A c.5196C>A (p.Ser1732=) c.5262C>A (p.Ser1754=) c.5187C>A (p.Ser1729=) n.3042C>A c.5319C>A (p.Ser1773=) c.5265C>A (p.Ser1755=) c.5280C>A (p.Ser1760=) c.5190C>A (p.Ser1730=) c.5315C>A c.5388C>A (p.Ser1796=) n.4209C>A n.2646C>A n.2617C>A n.2507C>A c.5049C>A (p.Ser1683=) c.*4561C>A (n.*4561C>A) c.5085C>A (p.Ser1695=) n.3117C>A c.1576C>A n.2509C>A c.5448C>A (p.Ser1816=) c.5445C>A (p.Ser1815=) c.5337C>A (p.Ser1779=) c.5316C>A (p.Ser1772=) c.4662C>A (p.Ser1554=) c.5610C>A (p.Ser1870=) c.5358C>A (p.Ser1786=) c.4104C>A (p.Ser1368=) | |
16 | g.2088580C>G | CA493043817 | TSC2 | c.*3743C>G (n.*3743C>G) c.5241C>G (p.Ser1747=) c.5391C>G (p.Ser1797=) c.*5907C>G (n.*5907C>G) c.*8143C>G (n.*8143C>G) c.5394C>G (p.Ser1798=) c.5325C>G (p.Ser1775=) c.5193C>G (p.Ser1731=) c.5226C>G (p.Ser1742=) c.1617C>G n.3276C>G c.4048C>G c.5253C>G (p.Ser1751=) n.991C>G c.5196C>G (p.Ser1732=) c.5262C>G (p.Ser1754=) c.5187C>G (p.Ser1729=) n.3042C>G c.5319C>G (p.Ser1773=) c.5265C>G (p.Ser1755=) c.5280C>G (p.Ser1760=) c.5190C>G (p.Ser1730=) c.5315C>G c.5388C>G (p.Ser1796=) n.4209C>G n.2646C>G n.2617C>G n.2507C>G c.5049C>G (p.Ser1683=) c.*4561C>G (n.*4561C>G) c.5085C>G (p.Ser1695=) n.3117C>G c.1576C>G n.2509C>G c.5448C>G (p.Ser1816=) c.5445C>G (p.Ser1815=) c.5337C>G (p.Ser1779=) c.5316C>G (p.Ser1772=) c.4662C>G (p.Ser1554=) c.5610C>G (p.Ser1870=) c.5358C>G (p.Ser1786=) c.4104C>G (p.Ser1368=) | ClinVar |
16 | g.2088580C>T | CA493043819 | TSC2 | c.*3743C>T (n.*3743C>T) c.5241C>T (p.Ser1747=) c.5391C>T (p.Ser1797=) c.*5907C>T (n.*5907C>T) c.*8143C>T (n.*8143C>T) c.5394C>T (p.Ser1798=) c.5325C>T (p.Ser1775=) c.5193C>T (p.Ser1731=) c.5226C>T (p.Ser1742=) c.1617C>T n.3276C>T c.4048C>T c.5253C>T (p.Ser1751=) n.991C>T c.5196C>T (p.Ser1732=) c.5262C>T (p.Ser1754=) c.5187C>T (p.Ser1729=) n.3042C>T c.5319C>T (p.Ser1773=) c.5265C>T (p.Ser1755=) c.5280C>T (p.Ser1760=) c.5190C>T (p.Ser1730=) c.5315C>T c.5388C>T (p.Ser1796=) n.4209C>T n.2646C>T n.2617C>T n.2507C>T c.5049C>T (p.Ser1683=) c.*4561C>T (n.*4561C>T) c.5085C>T (p.Ser1695=) n.3117C>T c.1576C>T n.2509C>T c.5448C>T (p.Ser1816=) c.5445C>T (p.Ser1815=) c.5337C>T (p.Ser1779=) c.5316C>T (p.Ser1772=) c.4662C>T (p.Ser1554=) c.5610C>T (p.Ser1870=) c.5358C>T (p.Ser1786=) c.4104C>T (p.Ser1368=) | ClinVar dbSNP gnomAD v4 |
16 | g.2088581T>A | CA394316117 | TSC2 | c.*3744T>A (n.*3744T>A) c.5242T>A (p.Ser1748Thr) c.5392T>A (p.Ser1798Thr) c.*5908T>A (n.*5908T>A) c.*8144T>A (n.*8144T>A) c.5395T>A (p.Ser1799Thr) c.5326T>A (p.Ser1776Thr) c.5194T>A (p.Ser1732Thr) c.5227T>A (p.Ser1743Thr) c.1618T>A n.3277T>A c.4049T>A c.5254T>A (p.Ser1752Thr) n.992T>A c.5197T>A (p.Ser1733Thr) c.5263T>A (p.Ser1755Thr) c.5188T>A (p.Ser1730Thr) n.3043T>A c.5320T>A (p.Ser1774Thr) c.5266T>A (p.Ser1756Thr) c.5281T>A (p.Ser1761Thr) c.5191T>A (p.Ser1731Thr) c.5316T>A c.5389T>A (p.Ser1797Thr) n.4210T>A n.2647T>A n.2618T>A n.2508T>A c.5050T>A (p.Ser1684Thr) c.*4562T>A (n.*4562T>A) c.5086T>A (p.Ser1696Thr) n.3118T>A c.1577T>A n.2510T>A c.5449T>A (p.Ser1817Thr) c.5446T>A (p.Ser1816Thr) c.5338T>A (p.Ser1780Thr) c.5317T>A (p.Ser1773Thr) c.4663T>A (p.Ser1555Thr) c.5611T>A (p.Ser1871Thr) c.5359T>A (p.Ser1787Thr) c.4105T>A (p.Ser1369Thr) | |
16 | g.2088581T>C | CA394316115 | TSC2 | c.*3744T>C (n.*3744T>C) c.5242T>C (p.Ser1748Pro) c.5392T>C (p.Ser1798Pro) c.*5908T>C (n.*5908T>C) c.*8144T>C (n.*8144T>C) c.5395T>C (p.Ser1799Pro) c.5326T>C (p.Ser1776Pro) c.5194T>C (p.Ser1732Pro) c.5227T>C (p.Ser1743Pro) c.1618T>C n.3277T>C c.4049T>C c.5254T>C (p.Ser1752Pro) n.992T>C c.5197T>C (p.Ser1733Pro) c.5263T>C (p.Ser1755Pro) c.5188T>C (p.Ser1730Pro) n.3043T>C c.5320T>C (p.Ser1774Pro) c.5266T>C (p.Ser1756Pro) c.5281T>C (p.Ser1761Pro) c.5191T>C (p.Ser1731Pro) c.5316T>C c.5389T>C (p.Ser1797Pro) n.4210T>C n.2647T>C n.2618T>C n.2508T>C c.5050T>C (p.Ser1684Pro) c.*4562T>C (n.*4562T>C) c.5086T>C (p.Ser1696Pro) n.3118T>C c.1577T>C n.2510T>C c.5449T>C (p.Ser1817Pro) c.5446T>C (p.Ser1816Pro) c.5338T>C (p.Ser1780Pro) c.5317T>C (p.Ser1773Pro) c.4663T>C (p.Ser1555Pro) c.5611T>C (p.Ser1871Pro) c.5359T>C (p.Ser1787Pro) c.4105T>C (p.Ser1369Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088581T>G | CA394316116 | TSC2 | c.*3744T>G (n.*3744T>G) c.5242T>G (p.Ser1748Ala) c.5392T>G (p.Ser1798Ala) c.*5908T>G (n.*5908T>G) c.*8144T>G (n.*8144T>G) c.5395T>G (p.Ser1799Ala) c.5326T>G (p.Ser1776Ala) c.5194T>G (p.Ser1732Ala) c.5227T>G (p.Ser1743Ala) c.1618T>G n.3277T>G c.4049T>G c.5254T>G (p.Ser1752Ala) n.992T>G c.5197T>G (p.Ser1733Ala) c.5263T>G (p.Ser1755Ala) c.5188T>G (p.Ser1730Ala) n.3043T>G c.5320T>G (p.Ser1774Ala) c.5266T>G (p.Ser1756Ala) c.5281T>G (p.Ser1761Ala) c.5191T>G (p.Ser1731Ala) c.5316T>G c.5389T>G (p.Ser1797Ala) n.4210T>G n.2647T>G n.2618T>G n.2508T>G c.5050T>G (p.Ser1684Ala) c.*4562T>G (n.*4562T>G) c.5086T>G (p.Ser1696Ala) n.3118T>G c.1577T>G n.2510T>G c.5449T>G (p.Ser1817Ala) c.5446T>G (p.Ser1816Ala) c.5338T>G (p.Ser1780Ala) c.5317T>G (p.Ser1773Ala) c.4663T>G (p.Ser1555Ala) c.5611T>G (p.Ser1871Ala) c.5359T>G (p.Ser1787Ala) c.4105T>G (p.Ser1369Ala) | ClinVar dbSNP |
16 | g.2088581T= | CA2202034430 | TSC2 | c.*3744T= (n.*3744T=) c.5242T= (p.Ser1748=) c.5392T= (p.Ser1798=) c.*5908T= (n.*5908T=) c.*8144T= (n.*8144T=) c.5395T= (p.Ser1799=) c.5326T= (p.Ser1776=) c.5194T= (p.Ser1732=) c.5227T= (p.Ser1743=) c.1618T= n.3277T= c.4049T= c.5254T= (p.Ser1752=) n.992T= c.5197T= (p.Ser1733=) c.5263T= (p.Ser1755=) c.5188T= (p.Ser1730=) n.3043T= c.5320T= (p.Ser1774=) c.5266T= (p.Ser1756=) c.5281T= (p.Ser1761=) c.5191T= (p.Ser1731=) c.5316T= c.5389T= (p.Ser1797=) n.4210T= n.2647T= n.2618T= n.2508T= c.5050T= (p.Ser1684=) c.*4562T= (n.*4562T=) c.5086T= (p.Ser1696=) n.3118T= c.1577T= n.2510T= c.5449T= (p.Ser1817=) c.5446T= (p.Ser1816=) c.5338T= (p.Ser1780=) c.5317T= (p.Ser1773=) c.4663T= (p.Ser1555=) c.5611T= (p.Ser1871=) c.5359T= (p.Ser1787=) c.4105T= (p.Ser1369=) | |
16 | g.2088581_2088583del | CA2499223359 | TSC2 | c.*3744_*3746del (n.*3744_*3746del) c.5242_5244del (p.Ser1748del) c.5392_5394del (p.Ser1798del) c.*5908_*5910del (n.*5908_*5910del) c.*8144_*8146del (n.*8144_*8146del) c.5395_5397del (p.Ser1799del) c.5326_5328del (p.Ser1776del) c.5194_5196del (p.Ser1732del) c.5227_5229del (p.Ser1743del) c.1618_1620del n.3277_3279del c.4049_4051del c.5254_5256del (p.Ser1752del) n.992_994del c.5197_5199del (p.Ser1733del) c.5263_5265del (p.Ser1755del) c.5188_5190del (p.Ser1730del) n.3043_3045del c.5320_5322del (p.Ser1774del) c.5266_5268del (p.Ser1756del) c.5281_5283del (p.Ser1761del) c.5191_5193del (p.Ser1731del) c.5316_5318del c.5389_5391del (p.Ser1797del) n.4210_4212del n.2647_2649del n.2618_2620del n.2508_2510del c.5050_5052del (p.Ser1684del) c.*4562_*4564del (n.*4562_*4564del) c.5086_5088del (p.Ser1696del) n.3118_3120del c.1577_1579del n.2510_2512del c.5449_5451del (p.Ser1817del) c.5446_5448del (p.Ser1816del) c.5338_5340del (p.Ser1780del) c.5317_5319del (p.Ser1773del) c.4663_4665del (p.Ser1555del) c.5611_5613del (p.Ser1871del) c.5359_5361del (p.Ser1787del) c.4105_4107del (p.Ser1369del) | ClinVar dbSNP |
16 | g.2088582C>A | CA394316118 | TSC2 | c.*3745C>A (n.*3745C>A) c.5243C>A (p.Ser1748Ter) c.5393C>A (p.Ser1798Ter) c.*5909C>A (n.*5909C>A) c.*8145C>A (n.*8145C>A) c.5396C>A (p.Ser1799Ter) c.5327C>A (p.Ser1776Ter) c.5195C>A (p.Ser1732Ter) c.5228C>A (p.Ser1743Ter) c.1619C>A n.3278C>A c.4050C>A c.5255C>A (p.Ser1752Ter) n.993C>A c.5198C>A (p.Ser1733Ter) c.5264C>A (p.Ser1755Ter) c.5189C>A (p.Ser1730Ter) n.3044C>A c.5321C>A (p.Ser1774Ter) c.5267C>A (p.Ser1756Ter) c.5282C>A (p.Ser1761Ter) c.5192C>A (p.Ser1731Ter) c.5317C>A c.5390C>A (p.Ser1797Ter) n.4211C>A n.2648C>A n.2619C>A n.2509C>A c.5051C>A (p.Ser1684Ter) c.*4563C>A (n.*4563C>A) c.5087C>A (p.Ser1696Ter) n.3119C>A c.1578C>A n.2511C>A c.5450C>A (p.Ser1817Ter) c.5447C>A (p.Ser1816Ter) c.5339C>A (p.Ser1780Ter) c.5318C>A (p.Ser1773Ter) c.4664C>A (p.Ser1555Ter) c.5612C>A (p.Ser1871Ter) c.5360C>A (p.Ser1787Ter) c.4106C>A (p.Ser1369Ter) | dbSNP gnomAD v2 |
16 | g.2088582C= | CA2202034436 | TSC2 | c.*3745C= (n.*3745C=) c.5243C= (p.Ser1748=) c.5393C= (p.Ser1798=) c.*5909C= (n.*5909C=) c.*8145C= (n.*8145C=) c.5396C= (p.Ser1799=) c.5327C= (p.Ser1776=) c.5195C= (p.Ser1732=) c.5228C= (p.Ser1743=) c.1619C= n.3278C= c.4050C= c.5255C= (p.Ser1752=) n.993C= c.5198C= (p.Ser1733=) c.5264C= (p.Ser1755=) c.5189C= (p.Ser1730=) n.3044C= c.5321C= (p.Ser1774=) c.5267C= (p.Ser1756=) c.5282C= (p.Ser1761=) c.5192C= (p.Ser1731=) c.5317C= c.5390C= (p.Ser1797=) n.4211C= n.2648C= n.2619C= n.2509C= c.5051C= (p.Ser1684=) c.*4563C= (n.*4563C=) c.5087C= (p.Ser1696=) n.3119C= c.1578C= n.2511C= c.5450C= (p.Ser1817=) c.5447C= (p.Ser1816=) c.5339C= (p.Ser1780=) c.5318C= (p.Ser1773=) c.4664C= (p.Ser1555=) c.5612C= (p.Ser1871=) c.5360C= (p.Ser1787=) c.4106C= (p.Ser1369=) | |
16 | g.2088582C>G | CA394316119 | TSC2 | c.*3745C>G (n.*3745C>G) c.5243C>G (p.Ser1748Trp) c.5393C>G (p.Ser1798Trp) c.*5909C>G (n.*5909C>G) c.*8145C>G (n.*8145C>G) c.5396C>G (p.Ser1799Trp) c.5327C>G (p.Ser1776Trp) c.5195C>G (p.Ser1732Trp) c.5228C>G (p.Ser1743Trp) c.1619C>G n.3278C>G c.4050C>G c.5255C>G (p.Ser1752Trp) n.993C>G c.5198C>G (p.Ser1733Trp) c.5264C>G (p.Ser1755Trp) c.5189C>G (p.Ser1730Trp) n.3044C>G c.5321C>G (p.Ser1774Trp) c.5267C>G (p.Ser1756Trp) c.5282C>G (p.Ser1761Trp) c.5192C>G (p.Ser1731Trp) c.5317C>G c.5390C>G (p.Ser1797Trp) n.4211C>G n.2648C>G n.2619C>G n.2509C>G c.5051C>G (p.Ser1684Trp) c.*4563C>G (n.*4563C>G) c.5087C>G (p.Ser1696Trp) n.3119C>G c.1578C>G n.2511C>G c.5450C>G (p.Ser1817Trp) c.5447C>G (p.Ser1816Trp) c.5339C>G (p.Ser1780Trp) c.5318C>G (p.Ser1773Trp) c.4664C>G (p.Ser1555Trp) c.5612C>G (p.Ser1871Trp) c.5360C>G (p.Ser1787Trp) c.4106C>G (p.Ser1369Trp) | ClinVar dbSNP |
16 | g.2088582C>T | CA055299 | TSC2 | c.*3745C>T (n.*3745C>T) c.5243C>T (p.Ser1748Leu) c.5393C>T (p.Ser1798Leu) c.*5909C>T (n.*5909C>T) c.*8145C>T (n.*8145C>T) c.5396C>T (p.Ser1799Leu) c.5327C>T (p.Ser1776Leu) c.5195C>T (p.Ser1732Leu) c.5228C>T (p.Ser1743Leu) c.1619C>T n.3278C>T c.4050C>T c.5255C>T (p.Ser1752Leu) n.993C>T c.5198C>T (p.Ser1733Leu) c.5264C>T (p.Ser1755Leu) c.5189C>T (p.Ser1730Leu) n.3044C>T c.5321C>T (p.Ser1774Leu) c.5267C>T (p.Ser1756Leu) c.5282C>T (p.Ser1761Leu) c.5192C>T (p.Ser1731Leu) c.5317C>T c.5390C>T (p.Ser1797Leu) n.4211C>T n.2648C>T n.2619C>T n.2509C>T c.5051C>T (p.Ser1684Leu) c.*4563C>T (n.*4563C>T) c.5087C>T (p.Ser1696Leu) n.3119C>T c.1578C>T n.2511C>T c.5450C>T (p.Ser1817Leu) c.5447C>T (p.Ser1816Leu) c.5339C>T (p.Ser1780Leu) c.5318C>T (p.Ser1773Leu) c.4664C>T (p.Ser1555Leu) c.5612C>T (p.Ser1871Leu) c.5360C>T (p.Ser1787Leu) c.4106C>T (p.Ser1369Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2088583G>A | CA022471 | TSC2 | c.*3746G>A (n.*3746G>A) c.5244G>A (p.Ser1748=) c.5394G>A (p.Ser1798=) c.*5910G>A (n.*5910G>A) c.*8146G>A (n.*8146G>A) c.5397G>A (p.Ser1799=) c.5328G>A (p.Ser1776=) c.5196G>A (p.Ser1732=) c.5229G>A (p.Ser1743=) c.1620G>A n.3279G>A c.4051G>A c.5256G>A (p.Ser1752=) n.994G>A c.5199G>A (p.Ser1733=) c.5265G>A (p.Ser1755=) c.5190G>A (p.Ser1730=) n.3045G>A c.5322G>A (p.Ser1774=) c.5268G>A (p.Ser1756=) c.5283G>A (p.Ser1761=) c.5193G>A (p.Ser1731=) c.5318G>A c.5391G>A (p.Ser1797=) n.4212G>A n.2649G>A n.2620G>A n.2510G>A c.5052G>A (p.Ser1684=) c.*4564G>A (n.*4564G>A) c.5088G>A (p.Ser1696=) n.3120G>A c.1579G>A n.2512G>A c.5451G>A (p.Ser1817=) c.5448G>A (p.Ser1816=) c.5340G>A (p.Ser1780=) c.5319G>A (p.Ser1773=) c.4665G>A (p.Ser1555=) c.5613G>A (p.Ser1871=) c.5361G>A (p.Ser1787=) c.4107G>A (p.Ser1369=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088583G>C | CA022476 | TSC2 | c.*3746G>C (n.*3746G>C) c.5244G>C (p.Ser1748=) c.5394G>C (p.Ser1798=) c.*5910G>C (n.*5910G>C) c.*8146G>C (n.*8146G>C) c.5397G>C (p.Ser1799=) c.5328G>C (p.Ser1776=) c.5196G>C (p.Ser1732=) c.5229G>C (p.Ser1743=) c.1620G>C n.3279G>C c.4051G>C c.5256G>C (p.Ser1752=) n.994G>C c.5199G>C (p.Ser1733=) c.5265G>C (p.Ser1755=) c.5190G>C (p.Ser1730=) n.3045G>C c.5322G>C (p.Ser1774=) c.5268G>C (p.Ser1756=) c.5283G>C (p.Ser1761=) c.5193G>C (p.Ser1731=) c.5318G>C c.5391G>C (p.Ser1797=) n.4212G>C n.2649G>C n.2620G>C n.2510G>C c.5052G>C (p.Ser1684=) c.*4564G>C (n.*4564G>C) c.5088G>C (p.Ser1696=) n.3120G>C c.1579G>C n.2512G>C c.5451G>C (p.Ser1817=) c.5448G>C (p.Ser1816=) c.5340G>C (p.Ser1780=) c.5319G>C (p.Ser1773=) c.4665G>C (p.Ser1555=) c.5613G>C (p.Ser1871=) c.5361G>C (p.Ser1787=) c.4107G>C (p.Ser1369=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088583G= | CA2202034449 | TSC2 | c.*3746G= (n.*3746G=) c.5244G= (p.Ser1748=) c.5394G= (p.Ser1798=) c.*5910G= (n.*5910G=) c.*8146G= (n.*8146G=) c.5397G= (p.Ser1799=) c.5328G= (p.Ser1776=) c.5196G= (p.Ser1732=) c.5229G= (p.Ser1743=) c.1620G= n.3279G= c.4051G= c.5256G= (p.Ser1752=) n.994G= c.5199G= (p.Ser1733=) c.5265G= (p.Ser1755=) c.5190G= (p.Ser1730=) n.3045G= c.5322G= (p.Ser1774=) c.5268G= (p.Ser1756=) c.5283G= (p.Ser1761=) c.5193G= (p.Ser1731=) c.5318G= c.5391G= (p.Ser1797=) n.4212G= n.2649G= n.2620G= n.2510G= c.5052G= (p.Ser1684=) c.*4564G= (n.*4564G=) c.5088G= (p.Ser1696=) n.3120G= c.1579G= n.2512G= c.5451G= (p.Ser1817=) c.5448G= (p.Ser1816=) c.5340G= (p.Ser1780=) c.5319G= (p.Ser1773=) c.4665G= (p.Ser1555=) c.5613G= (p.Ser1871=) c.5361G= (p.Ser1787=) c.4107G= (p.Ser1369=) | |
16 | g.2088583G>T | CA493043829 | TSC2 | c.*3746G>T (n.*3746G>T) c.5244G>T (p.Ser1748=) c.5394G>T (p.Ser1798=) c.*5910G>T (n.*5910G>T) c.*8146G>T (n.*8146G>T) c.5397G>T (p.Ser1799=) c.5328G>T (p.Ser1776=) c.5196G>T (p.Ser1732=) c.5229G>T (p.Ser1743=) c.1620G>T n.3279G>T c.4051G>T c.5256G>T (p.Ser1752=) n.994G>T c.5199G>T (p.Ser1733=) c.5265G>T (p.Ser1755=) c.5190G>T (p.Ser1730=) n.3045G>T c.5322G>T (p.Ser1774=) c.5268G>T (p.Ser1756=) c.5283G>T (p.Ser1761=) c.5193G>T (p.Ser1731=) c.5318G>T c.5391G>T (p.Ser1797=) n.4212G>T n.2649G>T n.2620G>T n.2510G>T c.5052G>T (p.Ser1684=) c.*4564G>T (n.*4564G>T) c.5088G>T (p.Ser1696=) n.3120G>T c.1579G>T n.2512G>T c.5451G>T (p.Ser1817=) c.5448G>T (p.Ser1816=) c.5340G>T (p.Ser1780=) c.5319G>T (p.Ser1773=) c.4665G>T (p.Ser1555=) c.5613G>T (p.Ser1871=) c.5361G>T (p.Ser1787=) c.4107G>T (p.Ser1369=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088583_2088584delinsCA | CA916081768 | TSC2 | c.*3746_*3747delinsCA (n.*3746_*3747delinsCA) c.5244_5245delinsCA (p.Val1749Met) c.5394_5395delinsCA (p.Val1799Met) c.*5910_*5911delinsCA (n.*5910_*5911delinsCA) c.*8146_*8147delinsCA (n.*8146_*8147delinsCA) c.5397_5398delinsCA (p.Val1800Met) c.5328_5329delinsCA (p.Val1777Met) c.5196_5197delinsCA (p.Val1733Met) c.5229_5230delinsCA (p.Val1744Met) c.1620_1621delinsCA n.3279_3280delinsCA c.4051_4052delinsCA c.5256_5257delinsCA (p.Val1753Met) n.994_995delinsCA c.5199_5200delinsCA (p.Val1734Met) c.5265_5266delinsCA (p.Val1756Met) c.5190_5191delinsCA (p.Val1731Met) n.3045_3046delinsCA c.5322_5323delinsCA (p.Val1775Met) c.5268_5269delinsCA (p.Val1757Met) c.5283_5284delinsCA (p.Val1762Met) c.5193_5194delinsCA (p.Val1732Met) c.5318_5319delinsCA c.5391_5392delinsCA (p.Val1798Met) n.4212_4213delinsCA n.2649_2650delinsCA n.2620_2621delinsCA n.2510_2511delinsCA c.5052_5053delinsCA (p.Val1685Met) c.*4564_*4565delinsCA (n.*4564_*4565delinsCA) c.5088_5089delinsCA (p.Val1697Met) n.3120_3121delinsCA c.1579_1580delinsCA n.2512_2513delinsCA c.5451_5452delinsCA (p.Val1818Met) c.5448_5449delinsCA (p.Val1817Met) c.5340_5341delinsCA (p.Val1781Met) c.5319_5320delinsCA (p.Val1774Met) c.4665_4666delinsCA (p.Val1556Met) c.5613_5614delinsCA (p.Val1872Met) c.5361_5362delinsCA (p.Val1788Met) c.4107_4108delinsCA (p.Val1370Met) | ClinVar dbSNP |
16 | g.2088583_2088584delinsGG | CA2202034454 | TSC2 | c.*3746_*3747delinsGG (n.*3746_*3747delinsGG) c.5244_5245delinsGG (p.Ser1748=) c.5394_5395delinsGG (p.Ser1798=) c.*5910_*5911delinsGG (n.*5910_*5911delinsGG) c.*8146_*8147delinsGG (n.*8146_*8147delinsGG) c.5397_5398delinsGG (p.Ser1799=) c.5328_5329delinsGG (p.Ser1776=) c.5196_5197delinsGG (p.Ser1732=) c.5229_5230delinsGG (p.Ser1743=) c.1620_1621delinsGG n.3279_3280delinsGG c.4051_4052delinsGG c.5256_5257delinsGG (p.Ser1752=) n.994_995delinsGG c.5199_5200delinsGG (p.Ser1733=) c.5265_5266delinsGG (p.Ser1755=) c.5190_5191delinsGG (p.Ser1730=) n.3045_3046delinsGG c.5322_5323delinsGG (p.Ser1774=) c.5268_5269delinsGG (p.Ser1756=) c.5283_5284delinsGG (p.Ser1761=) c.5193_5194delinsGG (p.Ser1731=) c.5318_5319delinsGG c.5391_5392delinsGG (p.Ser1797=) n.4212_4213delinsGG n.2649_2650delinsGG n.2620_2621delinsGG n.2510_2511delinsGG c.5052_5053delinsGG (p.Ser1684=) c.*4564_*4565delinsGG (n.*4564_*4565delinsGG) c.5088_5089delinsGG (p.Ser1696=) n.3120_3121delinsGG c.1579_1580delinsGG n.2512_2513delinsGG c.5451_5452delinsGG (p.Ser1817=) c.5448_5449delinsGG (p.Ser1816=) c.5340_5341delinsGG (p.Ser1780=) c.5319_5320delinsGG (p.Ser1773=) c.4665_4666delinsGG (p.Ser1555=) c.5613_5614delinsGG (p.Ser1871=) c.5361_5362delinsGG (p.Ser1787=) c.4107_4108delinsGG (p.Ser1369=) | |
16 | g.2088585_2088587del | CA2697549446 | TSC2 | c.*3748_*3750del (n.*3748_*3750del) c.5246_5248del (p.Val1749del) c.5396_5398del (p.Val1799del) c.*5912_*5914del (n.*5912_*5914del) c.*8148_*8150del (n.*8148_*8150del) c.5399_5401del (p.Val1800del) c.5330_5332del (p.Val1777del) c.5198_5200del (p.Val1733del) c.5231_5233del (p.Val1744del) c.1622_1624del n.3281_3283del c.4053_4055del c.5258_5260del (p.Val1753del) n.996_998del c.5201_5203del (p.Val1734del) c.5267_5269del (p.Val1756del) c.5192_5194del (p.Val1731del) n.3047_3049del c.5324_5326del (p.Val1775del) c.5270_5272del (p.Val1757del) c.5285_5287del (p.Val1762del) c.5195_5197del (p.Val1732del) c.5320_5322del c.5393_5395del (p.Val1798del) n.4214_4216del n.2651_2653del n.2622_2624del n.2512_2514del c.5054_5056del (p.Val1685del) c.*4566_*4568del (n.*4566_*4568del) c.5090_5092del (p.Val1697del) n.3122_3124del c.1581_1583del n.2514_2516del c.5453_5455del (p.Val1818del) c.5450_5452del (p.Val1817del) c.5342_5344del (p.Val1781del) c.5321_5323del (p.Val1774del) c.4667_4669del (p.Val1556del) c.5615_5617del (p.Val1872del) c.5363_5365del (p.Val1788del) c.4109_4111del (p.Val1370del) | ClinVar |
16 | g.2088584G>A | CA394316137 | TSC2 | c.*3747G>A (n.*3747G>A) c.5245G>A (p.Val1749Met) c.5395G>A (p.Val1799Met) c.*5911G>A (n.*5911G>A) c.*8147G>A (n.*8147G>A) c.5398G>A (p.Val1800Met) c.5329G>A (p.Val1777Met) c.5197G>A (p.Val1733Met) c.5230G>A (p.Val1744Met) c.1621G>A n.3280G>A c.4052G>A c.5257G>A (p.Val1753Met) n.995G>A c.5200G>A (p.Val1734Met) c.5266G>A (p.Val1756Met) c.5191G>A (p.Val1731Met) n.3046G>A c.5323G>A (p.Val1775Met) c.5269G>A (p.Val1757Met) c.5284G>A (p.Val1762Met) c.5194G>A (p.Val1732Met) c.5319G>A c.5392G>A (p.Val1798Met) n.4213G>A n.2650G>A n.2621G>A n.2511G>A c.5053G>A (p.Val1685Met) c.*4565G>A (n.*4565G>A) c.5089G>A (p.Val1697Met) n.3121G>A c.1580G>A n.2513G>A c.5452G>A (p.Val1818Met) c.5449G>A (p.Val1817Met) c.5341G>A (p.Val1781Met) c.5320G>A (p.Val1774Met) c.4666G>A (p.Val1556Met) c.5614G>A (p.Val1872Met) c.5362G>A (p.Val1788Met) c.4108G>A (p.Val1370Met) | ClinVar dbSNP gnomAD v4 |
16 | g.2088584G>C | CA394316140 | TSC2 | c.*3747G>C (n.*3747G>C) c.5245G>C (p.Val1749Leu) c.5395G>C (p.Val1799Leu) c.*5911G>C (n.*5911G>C) c.*8147G>C (n.*8147G>C) c.5398G>C (p.Val1800Leu) c.5329G>C (p.Val1777Leu) c.5197G>C (p.Val1733Leu) c.5230G>C (p.Val1744Leu) c.1621G>C n.3280G>C c.4052G>C c.5257G>C (p.Val1753Leu) n.995G>C c.5200G>C (p.Val1734Leu) c.5266G>C (p.Val1756Leu) c.5191G>C (p.Val1731Leu) n.3046G>C c.5323G>C (p.Val1775Leu) c.5269G>C (p.Val1757Leu) c.5284G>C (p.Val1762Leu) c.5194G>C (p.Val1732Leu) c.5319G>C c.5392G>C (p.Val1798Leu) n.4213G>C n.2650G>C n.2621G>C n.2511G>C c.5053G>C (p.Val1685Leu) c.*4565G>C (n.*4565G>C) c.5089G>C (p.Val1697Leu) n.3121G>C c.1580G>C n.2513G>C c.5452G>C (p.Val1818Leu) c.5449G>C (p.Val1817Leu) c.5341G>C (p.Val1781Leu) c.5320G>C (p.Val1774Leu) c.4666G>C (p.Val1556Leu) c.5614G>C (p.Val1872Leu) c.5362G>C (p.Val1788Leu) c.4108G>C (p.Val1370Leu) | |
16 | g.2088584G>T | CA394316142 | TSC2 | c.*3747G>T (n.*3747G>T) c.5245G>T (p.Val1749Leu) c.5395G>T (p.Val1799Leu) c.*5911G>T (n.*5911G>T) c.*8147G>T (n.*8147G>T) c.5398G>T (p.Val1800Leu) c.5329G>T (p.Val1777Leu) c.5197G>T (p.Val1733Leu) c.5230G>T (p.Val1744Leu) c.1621G>T n.3280G>T c.4052G>T c.5257G>T (p.Val1753Leu) n.995G>T c.5200G>T (p.Val1734Leu) c.5266G>T (p.Val1756Leu) c.5191G>T (p.Val1731Leu) n.3046G>T c.5323G>T (p.Val1775Leu) c.5269G>T (p.Val1757Leu) c.5284G>T (p.Val1762Leu) c.5194G>T (p.Val1732Leu) c.5319G>T c.5392G>T (p.Val1798Leu) n.4213G>T n.2650G>T n.2621G>T n.2511G>T c.5053G>T (p.Val1685Leu) c.*4565G>T (n.*4565G>T) c.5089G>T (p.Val1697Leu) n.3121G>T c.1580G>T n.2513G>T c.5452G>T (p.Val1818Leu) c.5449G>T (p.Val1817Leu) c.5341G>T (p.Val1781Leu) c.5320G>T (p.Val1774Leu) c.4666G>T (p.Val1556Leu) c.5614G>T (p.Val1872Leu) c.5362G>T (p.Val1788Leu) c.4108G>T (p.Val1370Leu) | |
16 | g.2088585T>A | CA394316146 | TSC2 | c.*3748T>A (n.*3748T>A) c.5246T>A (p.Val1749Glu) c.5396T>A (p.Val1799Glu) c.*5912T>A (n.*5912T>A) c.*8148T>A (n.*8148T>A) c.5399T>A (p.Val1800Glu) c.5330T>A (p.Val1777Glu) c.5198T>A (p.Val1733Glu) c.5231T>A (p.Val1744Glu) c.1622T>A n.3281T>A c.4053T>A c.5258T>A (p.Val1753Glu) n.996T>A c.5201T>A (p.Val1734Glu) c.5267T>A (p.Val1756Glu) c.5192T>A (p.Val1731Glu) n.3047T>A c.5324T>A (p.Val1775Glu) c.5270T>A (p.Val1757Glu) c.5285T>A (p.Val1762Glu) c.5195T>A (p.Val1732Glu) c.5320T>A c.5393T>A (p.Val1798Glu) n.4214T>A n.2651T>A n.2622T>A n.2512T>A c.5054T>A (p.Val1685Glu) c.*4566T>A (n.*4566T>A) c.5090T>A (p.Val1697Glu) n.3122T>A c.1581T>A n.2514T>A c.5453T>A (p.Val1818Glu) c.5450T>A (p.Val1817Glu) c.5342T>A (p.Val1781Glu) c.5321T>A (p.Val1774Glu) c.4667T>A (p.Val1556Glu) c.5615T>A (p.Val1872Glu) c.5363T>A (p.Val1788Glu) c.4109T>A (p.Val1370Glu) | |
16 | g.2088585T>C | CA394316150 | TSC2 | c.*3748T>C (n.*3748T>C) c.5246T>C (p.Val1749Ala) c.5396T>C (p.Val1799Ala) c.*5912T>C (n.*5912T>C) c.*8148T>C (n.*8148T>C) c.5399T>C (p.Val1800Ala) c.5330T>C (p.Val1777Ala) c.5198T>C (p.Val1733Ala) c.5231T>C (p.Val1744Ala) c.1622T>C n.3281T>C c.4053T>C c.5258T>C (p.Val1753Ala) n.996T>C c.5201T>C (p.Val1734Ala) c.5267T>C (p.Val1756Ala) c.5192T>C (p.Val1731Ala) n.3047T>C c.5324T>C (p.Val1775Ala) c.5270T>C (p.Val1757Ala) c.5285T>C (p.Val1762Ala) c.5195T>C (p.Val1732Ala) c.5320T>C c.5393T>C (p.Val1798Ala) n.4214T>C n.2651T>C n.2622T>C n.2512T>C c.5054T>C (p.Val1685Ala) c.*4566T>C (n.*4566T>C) c.5090T>C (p.Val1697Ala) n.3122T>C c.1581T>C n.2514T>C c.5453T>C (p.Val1818Ala) c.5450T>C (p.Val1817Ala) c.5342T>C (p.Val1781Ala) c.5321T>C (p.Val1774Ala) c.4667T>C (p.Val1556Ala) c.5615T>C (p.Val1872Ala) c.5363T>C (p.Val1788Ala) c.4109T>C (p.Val1370Ala) | ClinVar dbSNP |
16 | g.2088585T>G | CA394316152 | TSC2 | c.*3748T>G (n.*3748T>G) c.5246T>G (p.Val1749Gly) c.5396T>G (p.Val1799Gly) c.*5912T>G (n.*5912T>G) c.*8148T>G (n.*8148T>G) c.5399T>G (p.Val1800Gly) c.5330T>G (p.Val1777Gly) c.5198T>G (p.Val1733Gly) c.5231T>G (p.Val1744Gly) c.1622T>G n.3281T>G c.4053T>G c.5258T>G (p.Val1753Gly) n.996T>G c.5201T>G (p.Val1734Gly) c.5267T>G (p.Val1756Gly) c.5192T>G (p.Val1731Gly) n.3047T>G c.5324T>G (p.Val1775Gly) c.5270T>G (p.Val1757Gly) c.5285T>G (p.Val1762Gly) c.5195T>G (p.Val1732Gly) c.5320T>G c.5393T>G (p.Val1798Gly) n.4214T>G n.2651T>G n.2622T>G n.2512T>G c.5054T>G (p.Val1685Gly) c.*4566T>G (n.*4566T>G) c.5090T>G (p.Val1697Gly) n.3122T>G c.1581T>G n.2514T>G c.5453T>G (p.Val1818Gly) c.5450T>G (p.Val1817Gly) c.5342T>G (p.Val1781Gly) c.5321T>G (p.Val1774Gly) c.4667T>G (p.Val1556Gly) c.5615T>G (p.Val1872Gly) c.5363T>G (p.Val1788Gly) c.4109T>G (p.Val1370Gly) | |
16 | g.2088585T= | CA2202034464 | TSC2 | c.*3748T= (n.*3748T=) c.5246T= (p.Val1749=) c.5396T= (p.Val1799=) c.*5912T= (n.*5912T=) c.*8148T= (n.*8148T=) c.5399T= (p.Val1800=) c.5330T= (p.Val1777=) c.5198T= (p.Val1733=) c.5231T= (p.Val1744=) c.1622T= n.3281T= c.4053T= c.5258T= (p.Val1753=) n.996T= c.5201T= (p.Val1734=) c.5267T= (p.Val1756=) c.5192T= (p.Val1731=) n.3047T= c.5324T= (p.Val1775=) c.5270T= (p.Val1757=) c.5285T= (p.Val1762=) c.5195T= (p.Val1732=) c.5320T= c.5393T= (p.Val1798=) n.4214T= n.2651T= n.2622T= n.2512T= c.5054T= (p.Val1685=) c.*4566T= (n.*4566T=) c.5090T= (p.Val1697=) n.3122T= c.1581T= n.2514T= c.5453T= (p.Val1818=) c.5450T= (p.Val1817=) c.5342T= (p.Val1781=) c.5321T= (p.Val1774=) c.4667T= (p.Val1556=) c.5615T= (p.Val1872=) c.5363T= (p.Val1788=) c.4109T= (p.Val1370=) | |
16 | g.2088586G>A | CA493043837 | TSC2 | c.*3749G>A (n.*3749G>A) c.5247G>A (p.Val1749=) c.5397G>A (p.Val1799=) c.*5913G>A (n.*5913G>A) c.*8149G>A (n.*8149G>A) c.5400G>A (p.Val1800=) c.5331G>A (p.Val1777=) c.5199G>A (p.Val1733=) c.5232G>A (p.Val1744=) c.1623G>A n.3282G>A c.4054G>A c.5259G>A (p.Val1753=) n.997G>A c.5202G>A (p.Val1734=) c.5268G>A (p.Val1756=) c.5193G>A (p.Val1731=) n.3048G>A c.5325G>A (p.Val1775=) c.5271G>A (p.Val1757=) c.5286G>A (p.Val1762=) c.5196G>A (p.Val1732=) c.5321G>A c.5394G>A (p.Val1798=) n.4215G>A n.2652G>A n.2623G>A n.2513G>A c.5055G>A (p.Val1685=) c.*4567G>A (n.*4567G>A) c.5091G>A (p.Val1697=) n.3123G>A c.1582G>A n.2515G>A c.5454G>A (p.Val1818=) c.5451G>A (p.Val1817=) c.5343G>A (p.Val1781=) c.5322G>A (p.Val1774=) c.4668G>A (p.Val1556=) c.5616G>A (p.Val1872=) c.5364G>A (p.Val1788=) c.4110G>A (p.Val1370=) | ClinVar dbSNP gnomAD v4 |
16 | g.2088586G>C | CA055318 | TSC2 | c.*3749G>C (n.*3749G>C) c.5247G>C (p.Val1749=) c.5397G>C (p.Val1799=) c.*5913G>C (n.*5913G>C) c.*8149G>C (n.*8149G>C) c.5400G>C (p.Val1800=) c.5331G>C (p.Val1777=) c.5199G>C (p.Val1733=) c.5232G>C (p.Val1744=) c.1623G>C n.3282G>C c.4054G>C c.5259G>C (p.Val1753=) n.997G>C c.5202G>C (p.Val1734=) c.5268G>C (p.Val1756=) c.5193G>C (p.Val1731=) n.3048G>C c.5325G>C (p.Val1775=) c.5271G>C (p.Val1757=) c.5286G>C (p.Val1762=) c.5196G>C (p.Val1732=) c.5321G>C c.5394G>C (p.Val1798=) n.4215G>C n.2652G>C n.2623G>C n.2513G>C c.5055G>C (p.Val1685=) c.*4567G>C (n.*4567G>C) c.5091G>C (p.Val1697=) n.3123G>C c.1582G>C n.2515G>C c.5454G>C (p.Val1818=) c.5451G>C (p.Val1817=) c.5343G>C (p.Val1781=) c.5322G>C (p.Val1774=) c.4668G>C (p.Val1556=) c.5616G>C (p.Val1872=) c.5364G>C (p.Val1788=) c.4110G>C (p.Val1370=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088586G= | CA2202034471 | TSC2 | c.*3749G= (n.*3749G=) c.5247G= (p.Val1749=) c.5397G= (p.Val1799=) c.*5913G= (n.*5913G=) c.*8149G= (n.*8149G=) c.5400G= (p.Val1800=) c.5331G= (p.Val1777=) c.5199G= (p.Val1733=) c.5232G= (p.Val1744=) c.1623G= n.3282G= c.4054G= c.5259G= (p.Val1753=) n.997G= c.5202G= (p.Val1734=) c.5268G= (p.Val1756=) c.5193G= (p.Val1731=) n.3048G= c.5325G= (p.Val1775=) c.5271G= (p.Val1757=) c.5286G= (p.Val1762=) c.5196G= (p.Val1732=) c.5321G= c.5394G= (p.Val1798=) n.4215G= n.2652G= n.2623G= n.2513G= c.5055G= (p.Val1685=) c.*4567G= (n.*4567G=) c.5091G= (p.Val1697=) n.3123G= c.1582G= n.2515G= c.5454G= (p.Val1818=) c.5451G= (p.Val1817=) c.5343G= (p.Val1781=) c.5322G= (p.Val1774=) c.4668G= (p.Val1556=) c.5616G= (p.Val1872=) c.5364G= (p.Val1788=) c.4110G= (p.Val1370=) | |
16 | g.2088586G>T | CA493043836 | TSC2 | c.*3749G>T (n.*3749G>T) c.5247G>T (p.Val1749=) c.5397G>T (p.Val1799=) c.*5913G>T (n.*5913G>T) c.*8149G>T (n.*8149G>T) c.5400G>T (p.Val1800=) c.5331G>T (p.Val1777=) c.5199G>T (p.Val1733=) c.5232G>T (p.Val1744=) c.1623G>T n.3282G>T c.4054G>T c.5259G>T (p.Val1753=) n.997G>T c.5202G>T (p.Val1734=) c.5268G>T (p.Val1756=) c.5193G>T (p.Val1731=) n.3048G>T c.5325G>T (p.Val1775=) c.5271G>T (p.Val1757=) c.5286G>T (p.Val1762=) c.5196G>T (p.Val1732=) c.5321G>T c.5394G>T (p.Val1798=) n.4215G>T n.2652G>T n.2623G>T n.2513G>T c.5055G>T (p.Val1685=) c.*4567G>T (n.*4567G>T) c.5091G>T (p.Val1697=) n.3123G>T c.1582G>T n.2515G>T c.5454G>T (p.Val1818=) c.5451G>T (p.Val1817=) c.5343G>T (p.Val1781=) c.5322G>T (p.Val1774=) c.4668G>T (p.Val1556=) c.5616G>T (p.Val1872=) c.5364G>T (p.Val1788=) c.4110G>T (p.Val1370=) | gnomAD v4 |
16 | g.2088587del | CA2805573973 | TSC2 | c.*3750del (n.*3750del) c.5248del (p.Glu1750ArgfsTer25) c.5398del (p.Glu1800ArgfsTer25) c.*5914del (n.*5914del) c.*8150del (n.*8150del) c.5401del (p.Glu1801ArgfsTer25) c.5332del (p.Glu1778ArgfsTer25) c.5200del (p.Glu1734ArgfsTer25) c.5233del (p.Glu1745ArgfsTer25) c.1624del n.3283del c.4055del c.5260del (p.Glu1754ArgfsTer25) n.998del c.5203del (p.Glu1735ArgfsTer25) c.5269del (p.Glu1757ArgfsTer25) c.5194del (p.Glu1732ArgfsTer25) n.3049del c.5326del (p.Glu1776ArgfsTer25) c.5272del (p.Glu1758ArgfsTer25) c.5287del (p.Glu1763ArgfsTer25) c.5197del (p.Glu1733ArgfsTer25) c.5322del c.5395del (p.Glu1799ArgfsTer25) n.4216del n.2653del n.2624del n.2514del c.5056del (p.Glu1686ArgfsTer25) c.*4568del (n.*4568del) c.5092del (p.Glu1698ArgfsTer25) n.3124del c.1583del n.2516del c.5455del (p.Glu1819ArgfsTer25) c.5452del (p.Glu1818ArgfsTer25) c.5344del (p.Glu1782ArgfsTer25) c.5323del (p.Glu1775ArgfsTer25) c.4669del (p.Glu1557ArgfsTer25) c.5617del (p.Glu1873ArgfsTer25) c.5365del (p.Glu1789ArgfsTer25) c.4111del (p.Glu1371ArgfsTer25) | |
16 | g.2088586_2088588delinsGGA | CA2202034469 | TSC2 | c.*3749_*3751delinsGGA (n.*3749_*3751delinsGGA) c.5247_5249delinsGGA (p.Val1749=) c.5397_5399delinsGGA (p.Val1799=) c.*5913_*5915delinsGGA (n.*5913_*5915delinsGGA) c.*8149_*8151delinsGGA (n.*8149_*8151delinsGGA) c.5400_5402delinsGGA (p.Val1800=) c.5331_5333delinsGGA (p.Val1777=) c.5199_5201delinsGGA (p.Val1733=) c.5232_5234delinsGGA (p.Val1744=) c.1623_1625delinsGGA n.3282_3284delinsGGA c.4054_4056delinsGGA c.5259_5261delinsGGA (p.Val1753=) n.997_999delinsGGA c.5202_5204delinsGGA (p.Val1734=) c.5268_5270delinsGGA (p.Val1756=) c.5193_5195delinsGGA (p.Val1731=) n.3048_3050delinsGGA c.5325_5327delinsGGA (p.Val1775=) c.5271_5273delinsGGA (p.Val1757=) c.5286_5288delinsGGA (p.Val1762=) c.5196_5198delinsGGA (p.Val1732=) c.5321_5323delinsGGA c.5394_5396delinsGGA (p.Val1798=) n.4215_4217delinsGGA n.2652_2654delinsGGA n.2623_2625delinsGGA n.2513_2515delinsGGA c.5055_5057delinsGGA (p.Val1685=) c.*4567_*4569delinsGGA (n.*4567_*4569delinsGGA) c.5091_5093delinsGGA (p.Val1697=) n.3123_3125delinsGGA c.1582_1584delinsGGA n.2515_2517delinsGGA c.5454_5456delinsGGA (p.Val1818=) c.5451_5453delinsGGA (p.Val1817=) c.5343_5345delinsGGA (p.Val1781=) c.5322_5324delinsGGA (p.Val1774=) c.4668_4670delinsGGA (p.Val1556=) c.5616_5618delinsGGA (p.Val1872=) c.5364_5366delinsGGA (p.Val1788=) c.4110_4112delinsGGA (p.Val1370=) | |
16 | g.2088589_2088591del | CA2580612730 | TSC2 | c.*3752_*3754del (n.*3752_*3754del) c.5250_5252del (p.Glu1750del) c.5400_5402del (p.Glu1800del) c.*5916_*5918del (n.*5916_*5918del) c.*8152_*8154del (n.*8152_*8154del) c.5403_5405del (p.Glu1801del) c.5334_5336del (p.Glu1778del) c.5202_5204del (p.Glu1734del) c.5235_5237del (p.Glu1745del) c.1626_1628del n.3285_3287del c.4057_4059del c.5262_5264del (p.Glu1754del) n.1000_1002del c.5205_5207del (p.Glu1735del) c.5271_5273del (p.Glu1757del) c.5196_5198del (p.Glu1732del) n.3051_3053del c.5328_5330del (p.Glu1776del) c.5274_5276del (p.Glu1758del) c.5289_5291del (p.Glu1763del) c.5199_5201del (p.Glu1733del) c.5324_5326del c.5397_5399del (p.Glu1799del) n.4218_4220del n.2655_2657del n.2626_2628del n.2516_2518del c.5058_5060del (p.Glu1686del) c.*4570_*4572del (n.*4570_*4572del) c.5094_5096del (p.Glu1698del) n.3126_3128del c.1585_1587del n.2518_2520del c.5457_5459del (p.Glu1819del) c.5454_5456del (p.Glu1818del) c.5346_5348del (p.Glu1782del) c.5325_5327del (p.Glu1775del) c.4671_4673del (p.Glu1557del) c.5619_5621del (p.Glu1873del) c.5367_5369del (p.Glu1789del) c.4113_4115del (p.Glu1371del) | ClinVar dbSNP |
16 | g.2088587G>A | CA394316159 | TSC2 | c.*3750G>A (n.*3750G>A) c.5248G>A (p.Glu1750Lys) c.5398G>A (p.Glu1800Lys) c.*5914G>A (n.*5914G>A) c.*8150G>A (n.*8150G>A) c.5401G>A (p.Glu1801Lys) c.5332G>A (p.Glu1778Lys) c.5200G>A (p.Glu1734Lys) c.5233G>A (p.Glu1745Lys) c.1624G>A n.3283G>A c.4055G>A c.5260G>A (p.Glu1754Lys) n.998G>A c.5203G>A (p.Glu1735Lys) c.5269G>A (p.Glu1757Lys) c.5194G>A (p.Glu1732Lys) n.3049G>A c.5326G>A (p.Glu1776Lys) c.5272G>A (p.Glu1758Lys) c.5287G>A (p.Glu1763Lys) c.5197G>A (p.Glu1733Lys) c.5322G>A c.5395G>A (p.Glu1799Lys) n.4216G>A n.2653G>A n.2624G>A n.2514G>A c.5056G>A (p.Glu1686Lys) c.*4568G>A (n.*4568G>A) c.5092G>A (p.Glu1698Lys) n.3124G>A c.1583G>A n.2516G>A c.5455G>A (p.Glu1819Lys) c.5452G>A (p.Glu1818Lys) c.5344G>A (p.Glu1782Lys) c.5323G>A (p.Glu1775Lys) c.4669G>A (p.Glu1557Lys) c.5617G>A (p.Glu1873Lys) c.5365G>A (p.Glu1789Lys) c.4111G>A (p.Glu1371Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088587G>C | CA394316167 | TSC2 | c.*3750G>C (n.*3750G>C) c.5248G>C (p.Glu1750Gln) c.5398G>C (p.Glu1800Gln) c.*5914G>C (n.*5914G>C) c.*8150G>C (n.*8150G>C) c.5401G>C (p.Glu1801Gln) c.5332G>C (p.Glu1778Gln) c.5200G>C (p.Glu1734Gln) c.5233G>C (p.Glu1745Gln) c.1624G>C n.3283G>C c.4055G>C c.5260G>C (p.Glu1754Gln) n.998G>C c.5203G>C (p.Glu1735Gln) c.5269G>C (p.Glu1757Gln) c.5194G>C (p.Glu1732Gln) n.3049G>C c.5326G>C (p.Glu1776Gln) c.5272G>C (p.Glu1758Gln) c.5287G>C (p.Glu1763Gln) c.5197G>C (p.Glu1733Gln) c.5322G>C c.5395G>C (p.Glu1799Gln) n.4216G>C n.2653G>C n.2624G>C n.2514G>C c.5056G>C (p.Glu1686Gln) c.*4568G>C (n.*4568G>C) c.5092G>C (p.Glu1698Gln) n.3124G>C c.1583G>C n.2516G>C c.5455G>C (p.Glu1819Gln) c.5452G>C (p.Glu1818Gln) c.5344G>C (p.Glu1782Gln) c.5323G>C (p.Glu1775Gln) c.4669G>C (p.Glu1557Gln) c.5617G>C (p.Glu1873Gln) c.5365G>C (p.Glu1789Gln) c.4111G>C (p.Glu1371Gln) | |
16 | g.2088587G= | CA2202034480 | TSC2 | c.*3750G= (n.*3750G=) c.5248G= (p.Glu1750=) c.5398G= (p.Glu1800=) c.*5914G= (n.*5914G=) c.*8150G= (n.*8150G=) c.5401G= (p.Glu1801=) c.5332G= (p.Glu1778=) c.5200G= (p.Glu1734=) c.5233G= (p.Glu1745=) c.1624G= n.3283G= c.4055G= c.5260G= (p.Glu1754=) n.998G= c.5203G= (p.Glu1735=) c.5269G= (p.Glu1757=) c.5194G= (p.Glu1732=) n.3049G= c.5326G= (p.Glu1776=) c.5272G= (p.Glu1758=) c.5287G= (p.Glu1763=) c.5197G= (p.Glu1733=) c.5322G= c.5395G= (p.Glu1799=) n.4216G= n.2653G= n.2624G= n.2514G= c.5056G= (p.Glu1686=) c.*4568G= (n.*4568G=) c.5092G= (p.Glu1698=) n.3124G= c.1583G= n.2516G= c.5455G= (p.Glu1819=) c.5452G= (p.Glu1818=) c.5344G= (p.Glu1782=) c.5323G= (p.Glu1775=) c.4669G= (p.Glu1557=) c.5617G= (p.Glu1873=) c.5365G= (p.Glu1789=) c.4111G= (p.Glu1371=) | |
16 | g.2088587G>T | CA394316164 | TSC2 | c.*3750G>T (n.*3750G>T) c.5248G>T (p.Glu1750Ter) c.5398G>T (p.Glu1800Ter) c.*5914G>T (n.*5914G>T) c.*8150G>T (n.*8150G>T) c.5401G>T (p.Glu1801Ter) c.5332G>T (p.Glu1778Ter) c.5200G>T (p.Glu1734Ter) c.5233G>T (p.Glu1745Ter) c.1624G>T n.3283G>T c.4055G>T c.5260G>T (p.Glu1754Ter) n.998G>T c.5203G>T (p.Glu1735Ter) c.5269G>T (p.Glu1757Ter) c.5194G>T (p.Glu1732Ter) n.3049G>T c.5326G>T (p.Glu1776Ter) c.5272G>T (p.Glu1758Ter) c.5287G>T (p.Glu1763Ter) c.5197G>T (p.Glu1733Ter) c.5322G>T c.5395G>T (p.Glu1799Ter) n.4216G>T n.2653G>T n.2624G>T n.2514G>T c.5056G>T (p.Glu1686Ter) c.*4568G>T (n.*4568G>T) c.5092G>T (p.Glu1698Ter) n.3124G>T c.1583G>T n.2516G>T c.5455G>T (p.Glu1819Ter) c.5452G>T (p.Glu1818Ter) c.5344G>T (p.Glu1782Ter) c.5323G>T (p.Glu1775Ter) c.4669G>T (p.Glu1557Ter) c.5617G>T (p.Glu1873Ter) c.5365G>T (p.Glu1789Ter) c.4111G>T (p.Glu1371Ter) | gnomAD v4 |
16 | g.2088587_2088588delinsTT | CA2580091209 | TSC2 | c.*3750_*3751delinsTT (n.*3750_*3751delinsTT) c.5248_5249delinsTT (p.Glu1750Leu) c.5398_5399delinsTT (p.Glu1800Leu) c.*5914_*5915delinsTT (n.*5914_*5915delinsTT) c.*8150_*8151delinsTT (n.*8150_*8151delinsTT) c.5401_5402delinsTT (p.Glu1801Leu) c.5332_5333delinsTT (p.Glu1778Leu) c.5200_5201delinsTT (p.Glu1734Leu) c.5233_5234delinsTT (p.Glu1745Leu) c.1624_1625delinsTT n.3283_3284delinsTT c.4055_4056delinsTT c.5260_5261delinsTT (p.Glu1754Leu) n.998_999delinsTT c.5203_5204delinsTT (p.Glu1735Leu) c.5269_5270delinsTT (p.Glu1757Leu) c.5194_5195delinsTT (p.Glu1732Leu) n.3049_3050delinsTT c.5326_5327delinsTT (p.Glu1776Leu) c.5272_5273delinsTT (p.Glu1758Leu) c.5287_5288delinsTT (p.Glu1763Leu) c.5197_5198delinsTT (p.Glu1733Leu) c.5322_5323delinsTT c.5395_5396delinsTT (p.Glu1799Leu) n.4216_4217delinsTT n.2653_2654delinsTT n.2624_2625delinsTT n.2514_2515delinsTT c.5056_5057delinsTT (p.Glu1686Leu) c.*4568_*4569delinsTT (n.*4568_*4569delinsTT) c.5092_5093delinsTT (p.Glu1698Leu) n.3124_3125delinsTT c.1583_1584delinsTT n.2516_2517delinsTT c.5455_5456delinsTT (p.Glu1819Leu) c.5452_5453delinsTT (p.Glu1818Leu) c.5344_5345delinsTT (p.Glu1782Leu) c.5323_5324delinsTT (p.Glu1775Leu) c.4669_4670delinsTT (p.Glu1557Leu) c.5617_5618delinsTT (p.Glu1873Leu) c.5365_5366delinsTT (p.Glu1789Leu) c.4111_4112delinsTT (p.Glu1371Leu) | ClinVar |
16 | g.2088588_2088589del | CA022480 | TSC2 | c.*3751_*3752del (n.*3751_*3752del) c.5249_5250del (p.Glu1750GlyfsTer?) c.5399_5400del (p.Glu1800GlyfsTer?) c.*5915_*5916del (n.*5915_*5916del) c.*8151_*8152del (n.*8151_*8152del) c.5402_5403del (p.Glu1801GlyfsTer?) c.5333_5334del (p.Glu1778GlyfsTer?) c.5201_5202del (p.Glu1734GlyfsTer?) c.5234_5235del (p.Glu1745GlyfsTer?) c.1625_1626del n.3284_3285del c.4056_4057del c.5261_5262del (p.Glu1754GlyfsTer?) n.999_1000del c.5204_5205del (p.Glu1735GlyfsTer?) c.5270_5271del (p.Glu1757GlyfsTer?) c.5195_5196del (p.Glu1732GlyfsTer?) n.3050_3051del c.5327_5328del (p.Glu1776GlyfsTer?) c.5273_5274del (p.Glu1758GlyfsTer?) c.5288_5289del (p.Glu1763GlyfsTer?) c.5198_5199del (p.Glu1733GlyfsTer?) c.5323_5324del c.5396_5397del (p.Glu1799GlyfsTer?) n.4217_4218del n.2654_2655del n.2625_2626del n.2515_2516del c.5057_5058del (p.Glu1686GlyfsTer?) c.*4569_*4570del (n.*4569_*4570del) c.5093_5094del (p.Glu1698GlyfsTer?) n.3125_3126del c.1584_1585del n.2517_2518del c.5456_5457del (p.Glu1819GlyfsTer?) c.5453_5454del (p.Glu1818GlyfsTer?) c.5345_5346del (p.Glu1782GlyfsTer?) c.5324_5325del (p.Glu1775GlyfsTer?) c.4670_4671del (p.Glu1557GlyfsTer?) c.5618_5619del (p.Glu1873GlyfsTer?) c.5366_5367del (p.Glu1789GlyfsTer?) c.4112_4113del (p.Glu1371GlyfsTer?) | ClinVar dbSNP |
16 | g.2088588A>C | CA394316170 | TSC2 | c.*3751A>C (n.*3751A>C) c.5249A>C (p.Glu1750Ala) c.5399A>C (p.Glu1800Ala) c.*5915A>C (n.*5915A>C) c.*8151A>C (n.*8151A>C) c.5402A>C (p.Glu1801Ala) c.5333A>C (p.Glu1778Ala) c.5201A>C (p.Glu1734Ala) c.5234A>C (p.Glu1745Ala) c.1625A>C n.3284A>C c.4056A>C c.5261A>C (p.Glu1754Ala) n.999A>C c.5204A>C (p.Glu1735Ala) c.5270A>C (p.Glu1757Ala) c.5195A>C (p.Glu1732Ala) n.3050A>C c.5327A>C (p.Glu1776Ala) c.5273A>C (p.Glu1758Ala) c.5288A>C (p.Glu1763Ala) c.5198A>C (p.Glu1733Ala) c.5323A>C c.5396A>C (p.Glu1799Ala) n.4217A>C n.2654A>C n.2625A>C n.2515A>C c.5057A>C (p.Glu1686Ala) c.*4569A>C (n.*4569A>C) c.5093A>C (p.Glu1698Ala) n.3125A>C c.1584A>C n.2517A>C c.5456A>C (p.Glu1819Ala) c.5453A>C (p.Glu1818Ala) c.5345A>C (p.Glu1782Ala) c.5324A>C (p.Glu1775Ala) c.4670A>C (p.Glu1557Ala) c.5618A>C (p.Glu1873Ala) c.5366A>C (p.Glu1789Ala) c.4112A>C (p.Glu1371Ala) | |
16 | g.2088588A>G | CA394316174 | TSC2 | c.*3751A>G (n.*3751A>G) c.5249A>G (p.Glu1750Gly) c.5399A>G (p.Glu1800Gly) c.*5915A>G (n.*5915A>G) c.*8151A>G (n.*8151A>G) c.5402A>G (p.Glu1801Gly) c.5333A>G (p.Glu1778Gly) c.5201A>G (p.Glu1734Gly) c.5234A>G (p.Glu1745Gly) c.1625A>G n.3284A>G c.4056A>G c.5261A>G (p.Glu1754Gly) n.999A>G c.5204A>G (p.Glu1735Gly) c.5270A>G (p.Glu1757Gly) c.5195A>G (p.Glu1732Gly) n.3050A>G c.5327A>G (p.Glu1776Gly) c.5273A>G (p.Glu1758Gly) c.5288A>G (p.Glu1763Gly) c.5198A>G (p.Glu1733Gly) c.5323A>G c.5396A>G (p.Glu1799Gly) n.4217A>G n.2654A>G n.2625A>G n.2515A>G c.5057A>G (p.Glu1686Gly) c.*4569A>G (n.*4569A>G) c.5093A>G (p.Glu1698Gly) n.3125A>G c.1584A>G n.2517A>G c.5456A>G (p.Glu1819Gly) c.5453A>G (p.Glu1818Gly) c.5345A>G (p.Glu1782Gly) c.5324A>G (p.Glu1775Gly) c.4670A>G (p.Glu1557Gly) c.5618A>G (p.Glu1873Gly) c.5366A>G (p.Glu1789Gly) c.4112A>G (p.Glu1371Gly) | dbSNP |
16 | g.2088588A>T | CA394316176 | TSC2 | c.*3751A>T (n.*3751A>T) c.5249A>T (p.Glu1750Val) c.5399A>T (p.Glu1800Val) c.*5915A>T (n.*5915A>T) c.*8151A>T (n.*8151A>T) c.5402A>T (p.Glu1801Val) c.5333A>T (p.Glu1778Val) c.5201A>T (p.Glu1734Val) c.5234A>T (p.Glu1745Val) c.1625A>T n.3284A>T c.4056A>T c.5261A>T (p.Glu1754Val) n.999A>T c.5204A>T (p.Glu1735Val) c.5270A>T (p.Glu1757Val) c.5195A>T (p.Glu1732Val) n.3050A>T c.5327A>T (p.Glu1776Val) c.5273A>T (p.Glu1758Val) c.5288A>T (p.Glu1763Val) c.5198A>T (p.Glu1733Val) c.5323A>T c.5396A>T (p.Glu1799Val) n.4217A>T n.2654A>T n.2625A>T n.2515A>T c.5057A>T (p.Glu1686Val) c.*4569A>T (n.*4569A>T) c.5093A>T (p.Glu1698Val) n.3125A>T c.1584A>T n.2517A>T c.5456A>T (p.Glu1819Val) c.5453A>T (p.Glu1818Val) c.5345A>T (p.Glu1782Val) c.5324A>T (p.Glu1775Val) c.4670A>T (p.Glu1557Val) c.5618A>T (p.Glu1873Val) c.5366A>T (p.Glu1789Val) c.4112A>T (p.Glu1371Val) | |
16 | g.2088589G>A | CA493043841 | TSC2 | c.*3752G>A (n.*3752G>A) c.5250G>A (p.Glu1750=) c.5400G>A (p.Glu1800=) c.*5916G>A (n.*5916G>A) c.*8152G>A (n.*8152G>A) c.5403G>A (p.Glu1801=) c.5334G>A (p.Glu1778=) c.5202G>A (p.Glu1734=) c.5235G>A (p.Glu1745=) c.1626G>A n.3285G>A c.4057G>A c.5262G>A (p.Glu1754=) n.1000G>A c.5205G>A (p.Glu1735=) c.5271G>A (p.Glu1757=) c.5196G>A (p.Glu1732=) n.3051G>A c.5328G>A (p.Glu1776=) c.5274G>A (p.Glu1758=) c.5289G>A (p.Glu1763=) c.5199G>A (p.Glu1733=) c.5324G>A c.5397G>A (p.Glu1799=) n.4218G>A n.2655G>A n.2626G>A n.2516G>A c.5058G>A (p.Glu1686=) c.*4570G>A (n.*4570G>A) c.5094G>A (p.Glu1698=) n.3126G>A c.1585G>A n.2518G>A c.5457G>A (p.Glu1819=) c.5454G>A (p.Glu1818=) c.5346G>A (p.Glu1782=) c.5325G>A (p.Glu1775=) c.4671G>A (p.Glu1557=) c.5619G>A (p.Glu1873=) c.5367G>A (p.Glu1789=) c.4113G>A (p.Glu1371=) | ClinVar dbSNP gnomAD v4 |
16 | g.2088589G>C | CA394316180 | TSC2 | c.*3752G>C (n.*3752G>C) c.5250G>C (p.Glu1750Asp) c.5400G>C (p.Glu1800Asp) c.*5916G>C (n.*5916G>C) c.*8152G>C (n.*8152G>C) c.5403G>C (p.Glu1801Asp) c.5334G>C (p.Glu1778Asp) c.5202G>C (p.Glu1734Asp) c.5235G>C (p.Glu1745Asp) c.1626G>C n.3285G>C c.4057G>C c.5262G>C (p.Glu1754Asp) n.1000G>C c.5205G>C (p.Glu1735Asp) c.5271G>C (p.Glu1757Asp) c.5196G>C (p.Glu1732Asp) n.3051G>C c.5328G>C (p.Glu1776Asp) c.5274G>C (p.Glu1758Asp) c.5289G>C (p.Glu1763Asp) c.5199G>C (p.Glu1733Asp) c.5324G>C c.5397G>C (p.Glu1799Asp) n.4218G>C n.2655G>C n.2626G>C n.2516G>C c.5058G>C (p.Glu1686Asp) c.*4570G>C (n.*4570G>C) c.5094G>C (p.Glu1698Asp) n.3126G>C c.1585G>C n.2518G>C c.5457G>C (p.Glu1819Asp) c.5454G>C (p.Glu1818Asp) c.5346G>C (p.Glu1782Asp) c.5325G>C (p.Glu1775Asp) c.4671G>C (p.Glu1557Asp) c.5619G>C (p.Glu1873Asp) c.5367G>C (p.Glu1789Asp) c.4113G>C (p.Glu1371Asp) | |
16 | g.2088589G= | CA2202034492 | TSC2 | c.*3752G= (n.*3752G=) c.5250G= (p.Glu1750=) c.5400G= (p.Glu1800=) c.*5916G= (n.*5916G=) c.*8152G= (n.*8152G=) c.5403G= (p.Glu1801=) c.5334G= (p.Glu1778=) c.5202G= (p.Glu1734=) c.5235G= (p.Glu1745=) c.1626G= n.3285G= c.4057G= c.5262G= (p.Glu1754=) n.1000G= c.5205G= (p.Glu1735=) c.5271G= (p.Glu1757=) c.5196G= (p.Glu1732=) n.3051G= c.5328G= (p.Glu1776=) c.5274G= (p.Glu1758=) c.5289G= (p.Glu1763=) c.5199G= (p.Glu1733=) c.5324G= c.5397G= (p.Glu1799=) n.4218G= n.2655G= n.2626G= n.2516G= c.5058G= (p.Glu1686=) c.*4570G= (n.*4570G=) c.5094G= (p.Glu1698=) n.3126G= c.1585G= n.2518G= c.5457G= (p.Glu1819=) c.5454G= (p.Glu1818=) c.5346G= (p.Glu1782=) c.5325G= (p.Glu1775=) c.4671G= (p.Glu1557=) c.5619G= (p.Glu1873=) c.5367G= (p.Glu1789=) c.4113G= (p.Glu1371=) | |
16 | g.2088589G>T | CA16615209 | TSC2 | c.*3752G>T (n.*3752G>T) c.5250G>T (p.Glu1750Asp) c.5400G>T (p.Glu1800Asp) c.*5916G>T (n.*5916G>T) c.*8152G>T (n.*8152G>T) c.5403G>T (p.Glu1801Asp) c.5334G>T (p.Glu1778Asp) c.5202G>T (p.Glu1734Asp) c.5235G>T (p.Glu1745Asp) c.1626G>T n.3285G>T c.4057G>T c.5262G>T (p.Glu1754Asp) n.1000G>T c.5205G>T (p.Glu1735Asp) c.5271G>T (p.Glu1757Asp) c.5196G>T (p.Glu1732Asp) n.3051G>T c.5328G>T (p.Glu1776Asp) c.5274G>T (p.Glu1758Asp) c.5289G>T (p.Glu1763Asp) c.5199G>T (p.Glu1733Asp) c.5324G>T c.5397G>T (p.Glu1799Asp) n.4218G>T n.2655G>T n.2626G>T n.2516G>T c.5058G>T (p.Glu1686Asp) c.*4570G>T (n.*4570G>T) c.5094G>T (p.Glu1698Asp) n.3126G>T c.1585G>T n.2518G>T c.5457G>T (p.Glu1819Asp) c.5454G>T (p.Glu1818Asp) c.5346G>T (p.Glu1782Asp) c.5325G>T (p.Glu1775Asp) c.4671G>T (p.Glu1557Asp) c.5619G>T (p.Glu1873Asp) c.5367G>T (p.Glu1789Asp) c.4113G>T (p.Glu1371Asp) | ClinVar dbSNP |
16 | g.2088590G>A | CA394316182 | TSC2 | c.*3753G>A (n.*3753G>A) c.5251G>A (p.Asp1751Asn) c.5401G>A (p.Asp1801Asn) c.*5917G>A (n.*5917G>A) c.*8153G>A (n.*8153G>A) c.5404G>A (p.Asp1802Asn) c.5335G>A (p.Asp1779Asn) c.5203G>A (p.Asp1735Asn) c.5236G>A (p.Asp1746Asn) c.1627G>A n.3286G>A c.4058G>A c.5263G>A (p.Asp1755Asn) n.1001G>A c.5206G>A (p.Asp1736Asn) c.5272G>A (p.Asp1758Asn) c.5197G>A (p.Asp1733Asn) n.3052G>A c.5329G>A (p.Asp1777Asn) c.5275G>A (p.Asp1759Asn) c.5290G>A (p.Asp1764Asn) c.5200G>A (p.Asp1734Asn) c.5325G>A c.5398G>A (p.Asp1800Asn) n.4219G>A n.2656G>A n.2627G>A n.2517G>A c.5059G>A (p.Asp1687Asn) c.*4571G>A (n.*4571G>A) c.5095G>A (p.Asp1699Asn) n.3127G>A c.1586G>A n.2519G>A c.5458G>A (p.Asp1820Asn) c.5455G>A (p.Asp1819Asn) c.5347G>A (p.Asp1783Asn) c.5326G>A (p.Asp1776Asn) c.4672G>A (p.Asp1558Asn) c.5620G>A (p.Asp1874Asn) c.5368G>A (p.Asp1790Asn) c.4114G>A (p.Asp1372Asn) | ClinVar dbSNP |
16 | g.2088590G>C | CA394316184 | TSC2 | c.*3753G>C (n.*3753G>C) c.5251G>C (p.Asp1751His) c.5401G>C (p.Asp1801His) c.*5917G>C (n.*5917G>C) c.*8153G>C (n.*8153G>C) c.5404G>C (p.Asp1802His) c.5335G>C (p.Asp1779His) c.5203G>C (p.Asp1735His) c.5236G>C (p.Asp1746His) c.1627G>C n.3286G>C c.4058G>C c.5263G>C (p.Asp1755His) n.1001G>C c.5206G>C (p.Asp1736His) c.5272G>C (p.Asp1758His) c.5197G>C (p.Asp1733His) n.3052G>C c.5329G>C (p.Asp1777His) c.5275G>C (p.Asp1759His) c.5290G>C (p.Asp1764His) c.5200G>C (p.Asp1734His) c.5325G>C c.5398G>C (p.Asp1800His) n.4219G>C n.2656G>C n.2627G>C n.2517G>C c.5059G>C (p.Asp1687His) c.*4571G>C (n.*4571G>C) c.5095G>C (p.Asp1699His) n.3127G>C c.1586G>C n.2519G>C c.5458G>C (p.Asp1820His) c.5455G>C (p.Asp1819His) c.5347G>C (p.Asp1783His) c.5326G>C (p.Asp1776His) c.4672G>C (p.Asp1558His) c.5620G>C (p.Asp1874His) c.5368G>C (p.Asp1790His) c.4114G>C (p.Asp1372His) | |
16 | g.2088590G= | CA2202034501 | TSC2 | c.*3753G= (n.*3753G=) c.5251G= (p.Asp1751=) c.5401G= (p.Asp1801=) c.*5917G= (n.*5917G=) c.*8153G= (n.*8153G=) c.5404G= (p.Asp1802=) c.5335G= (p.Asp1779=) c.5203G= (p.Asp1735=) c.5236G= (p.Asp1746=) c.1627G= n.3286G= c.4058G= c.5263G= (p.Asp1755=) n.1001G= c.5206G= (p.Asp1736=) c.5272G= (p.Asp1758=) c.5197G= (p.Asp1733=) n.3052G= c.5329G= (p.Asp1777=) c.5275G= (p.Asp1759=) c.5290G= (p.Asp1764=) c.5200G= (p.Asp1734=) c.5325G= c.5398G= (p.Asp1800=) n.4219G= n.2656G= n.2627G= n.2517G= c.5059G= (p.Asp1687=) c.*4571G= (n.*4571G=) c.5095G= (p.Asp1699=) n.3127G= c.1586G= n.2519G= c.5458G= (p.Asp1820=) c.5455G= (p.Asp1819=) c.5347G= (p.Asp1783=) c.5326G= (p.Asp1776=) c.4672G= (p.Asp1558=) c.5620G= (p.Asp1874=) c.5368G= (p.Asp1790=) c.4114G= (p.Asp1372=) | |
16 | g.2088590G>T | CA394316187 | TSC2 | c.*3753G>T (n.*3753G>T) c.5251G>T (p.Asp1751Tyr) c.5401G>T (p.Asp1801Tyr) c.*5917G>T (n.*5917G>T) c.*8153G>T (n.*8153G>T) c.5404G>T (p.Asp1802Tyr) c.5335G>T (p.Asp1779Tyr) c.5203G>T (p.Asp1735Tyr) c.5236G>T (p.Asp1746Tyr) c.1627G>T n.3286G>T c.4058G>T c.5263G>T (p.Asp1755Tyr) n.1001G>T c.5206G>T (p.Asp1736Tyr) c.5272G>T (p.Asp1758Tyr) c.5197G>T (p.Asp1733Tyr) n.3052G>T c.5329G>T (p.Asp1777Tyr) c.5275G>T (p.Asp1759Tyr) c.5290G>T (p.Asp1764Tyr) c.5200G>T (p.Asp1734Tyr) c.5325G>T c.5398G>T (p.Asp1800Tyr) n.4219G>T n.2656G>T n.2627G>T n.2517G>T c.5059G>T (p.Asp1687Tyr) c.*4571G>T (n.*4571G>T) c.5095G>T (p.Asp1699Tyr) n.3127G>T c.1586G>T n.2519G>T c.5458G>T (p.Asp1820Tyr) c.5455G>T (p.Asp1819Tyr) c.5347G>T (p.Asp1783Tyr) c.5326G>T (p.Asp1776Tyr) c.4672G>T (p.Asp1558Tyr) c.5620G>T (p.Asp1874Tyr) c.5368G>T (p.Asp1790Tyr) c.4114G>T (p.Asp1372Tyr) | ClinVar gnomAD v4 |