| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2088516_2088525del | CA2573151990 | TSC2 | c.*3679_*3688del (n.*3679_*3688del) c.5177_5186del (p.Pro1726LeufsTer?) c.5327_5336del (p.Pro1776LeufsTer?) c.*5843_*5852del (n.*5843_*5852del) c.*8079_*8088del (n.*8079_*8088del) c.5330_5339del (p.Pro1777LeufsTer?) c.5261_5270del (p.Pro1754LeufsTer?) c.5129_5138del (p.Pro1710LeufsTer?) c.5162_5171del (p.Pro1721LeufsTer?) c.1553_1562del n.3212_3221del c.3984_3993del c.5189_5198del (p.Pro1730LeufsTer?) n.927_936del c.5132_5141del (p.Pro1711LeufsTer?) c.5198_5207del (p.Pro1733LeufsTer?) c.5123_5132del (p.Pro1708LeufsTer?) n.2978_2987del c.5255_5264del (p.Pro1752LeufsTer?) c.5201_5210del (p.Pro1734LeufsTer?) c.5216_5225del (p.Pro1739LeufsTer?) c.5126_5135del (p.Pro1709LeufsTer?) c.5251_5260del n.3414_3423del c.5324_5333del (p.Pro1775LeufsTer?) n.4145_4154del n.2582_2591del n.2553_2562del n.2443_2452del c.4985_4994del (p.Pro1662LeufsTer?) c.*4497_*4506del (n.*4497_*4506del) c.5021_5030del (p.Pro1674LeufsTer?) n.3053_3062del c.1512_1521del n.2445_2454del c.5384_5393del (p.Pro1795LeufsTer?) c.5381_5390del (p.Pro1794LeufsTer?) c.5273_5282del (p.Pro1758LeufsTer?) c.5252_5261del (p.Pro1751LeufsTer?) c.4598_4607del (p.Pro1533LeufsTer?) c.5546_5555del (p.Pro1849LeufsTer?) c.5294_5303del (p.Pro1765LeufsTer?) c.4040_4049del (p.Pro1347LeufsTer?) | ClinVar dbSNP |
| 16 | g.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.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.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 |