WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2088467_2088482del | CA16614837 | TSC2 | c.*3630_*3645del (n.*3630_*3645del) c.5128_5143del (p.Ser1710LeufsTer?) c.5278_5293del (p.Ser1760LeufsTer?) c.*5794_*5809del (n.*5794_*5809del) c.*8030_*8045del (n.*8030_*8045del) c.5281_5296del (p.Ser1761LeufsTer?) c.5212_5227del (p.Ser1738LeufsTer?) c.5080_5095del (p.Ser1694LeufsTer?) c.5113_5128del (p.Ser1705LeufsTer?) c.1504_1519del n.3163_3178del c.3935_3950del c.5140_5155del (p.Ser1714LeufsTer?) n.878_893del c.5083_5098del (p.Ser1695LeufsTer?) c.5149_5164del (p.Ser1717LeufsTer?) c.5074_5089del (p.Ser1692LeufsTer?) n.2929_2944del c.5206_5221del (p.Ser1736LeufsTer?) c.5152_5167del (p.Ser1718LeufsTer?) c.5167_5182del (p.Ser1723LeufsTer?) c.5077_5092del (p.Ser1693LeufsTer?) c.5202_5217del n.3365_3380del c.5275_5290del (p.Ser1759LeufsTer?) n.4096_4111del n.2533_2548del n.2504_2519del n.2394_2409del c.4936_4951del (p.Ser1646LeufsTer?) c.*4448_*4463del (n.*4448_*4463del) c.4972_4987del (p.Ser1658LeufsTer?) n.3004_3019del c.1463_1478del n.2396_2411del c.5335_5350del (p.Ser1779LeufsTer?) c.5332_5347del (p.Ser1778LeufsTer?) c.5224_5239del (p.Ser1742LeufsTer?) c.5203_5218del (p.Ser1735LeufsTer?) c.4549_4564del (p.Ser1517LeufsTer?) c.5497_5512del (p.Ser1833LeufsTer?) c.5245_5260del (p.Ser1749LeufsTer?) c.3991_4006del (p.Ser1331LeufsTer?) | ClinVar dbSNP |
| 16 | g.2088479C>A | CA394315286 | TSC2 | c.*3642C>A (n.*3642C>A) c.5140C>A (p.Leu1714Ile) c.5290C>A (p.Leu1764Ile) c.*5806C>A (n.*5806C>A) c.*8042C>A (n.*8042C>A) c.5293C>A (p.Leu1765Ile) c.5224C>A (p.Leu1742Ile) c.5092C>A (p.Leu1698Ile) c.5125C>A (p.Leu1709Ile) c.1516C>A n.3175C>A c.3947C>A c.5152C>A (p.Leu1718Ile) n.890C>A c.5095C>A (p.Leu1699Ile) c.5161C>A (p.Leu1721Ile) c.5086C>A (p.Leu1696Ile) n.2941C>A c.5218C>A (p.Leu1740Ile) c.5164C>A (p.Leu1722Ile) c.5179C>A (p.Leu1727Ile) c.5089C>A (p.Leu1697Ile) c.5214C>A n.3377C>A c.5287C>A (p.Leu1763Ile) n.4108C>A n.2545C>A n.2516C>A n.2406C>A c.4948C>A (p.Leu1650Ile) c.*4460C>A (n.*4460C>A) c.4984C>A (p.Leu1662Ile) n.3016C>A c.1475C>A n.2408C>A c.5347C>A (p.Leu1783Ile) c.5344C>A (p.Leu1782Ile) c.5236C>A (p.Leu1746Ile) c.5215C>A (p.Leu1739Ile) c.4561C>A (p.Leu1521Ile) c.5509C>A (p.Leu1837Ile) c.5257C>A (p.Leu1753Ile) c.4003C>A (p.Leu1335Ile) | ClinVar dbSNP |
| 16 | g.2088479C= | CA2202033544 | TSC2 | c.*3642C= (n.*3642C=) c.5140C= (p.Leu1714=) c.5290C= (p.Leu1764=) c.*5806C= (n.*5806C=) c.*8042C= (n.*8042C=) c.5293C= (p.Leu1765=) c.5224C= (p.Leu1742=) c.5092C= (p.Leu1698=) c.5125C= (p.Leu1709=) c.1516C= n.3175C= c.3947C= c.5152C= (p.Leu1718=) n.890C= c.5095C= (p.Leu1699=) c.5161C= (p.Leu1721=) c.5086C= (p.Leu1696=) n.2941C= c.5218C= (p.Leu1740=) c.5164C= (p.Leu1722=) c.5179C= (p.Leu1727=) c.5089C= (p.Leu1697=) c.5214C= n.3377C= c.5287C= (p.Leu1763=) n.4108C= n.2545C= n.2516C= n.2406C= c.4948C= (p.Leu1650=) c.*4460C= (n.*4460C=) c.4984C= (p.Leu1662=) n.3016C= c.1475C= n.2408C= c.5347C= (p.Leu1783=) c.5344C= (p.Leu1782=) c.5236C= (p.Leu1746=) c.5215C= (p.Leu1739=) c.4561C= (p.Leu1521=) c.5509C= (p.Leu1837=) c.5257C= (p.Leu1753=) c.4003C= (p.Leu1335=) | |
| 16 | g.2088479C>G | CA16615207 | TSC2 | c.*3642C>G (n.*3642C>G) c.5140C>G (p.Leu1714Val) c.5290C>G (p.Leu1764Val) c.*5806C>G (n.*5806C>G) c.*8042C>G (n.*8042C>G) c.5293C>G (p.Leu1765Val) c.5224C>G (p.Leu1742Val) c.5092C>G (p.Leu1698Val) c.5125C>G (p.Leu1709Val) c.1516C>G n.3175C>G c.3947C>G c.5152C>G (p.Leu1718Val) n.890C>G c.5095C>G (p.Leu1699Val) c.5161C>G (p.Leu1721Val) c.5086C>G (p.Leu1696Val) n.2941C>G c.5218C>G (p.Leu1740Val) c.5164C>G (p.Leu1722Val) c.5179C>G (p.Leu1727Val) c.5089C>G (p.Leu1697Val) c.5214C>G n.3377C>G c.5287C>G (p.Leu1763Val) n.4108C>G n.2545C>G n.2516C>G n.2406C>G c.4948C>G (p.Leu1650Val) c.*4460C>G (n.*4460C>G) c.4984C>G (p.Leu1662Val) n.3016C>G c.1475C>G n.2408C>G c.5347C>G (p.Leu1783Val) c.5344C>G (p.Leu1782Val) c.5236C>G (p.Leu1746Val) c.5215C>G (p.Leu1739Val) c.4561C>G (p.Leu1521Val) c.5509C>G (p.Leu1837Val) c.5257C>G (p.Leu1753Val) c.4003C>G (p.Leu1335Val) | ClinVar dbSNP |
| 16 | g.2088479C>T | CA493043675 | TSC2 | c.*3642C>T (n.*3642C>T) c.5140C>T (p.Leu1714=) c.5290C>T (p.Leu1764=) c.*5806C>T (n.*5806C>T) c.*8042C>T (n.*8042C>T) c.5293C>T (p.Leu1765=) c.5224C>T (p.Leu1742=) c.5092C>T (p.Leu1698=) c.5125C>T (p.Leu1709=) c.1516C>T n.3175C>T c.3947C>T c.5152C>T (p.Leu1718=) n.890C>T c.5095C>T (p.Leu1699=) c.5161C>T (p.Leu1721=) c.5086C>T (p.Leu1696=) n.2941C>T c.5218C>T (p.Leu1740=) c.5164C>T (p.Leu1722=) c.5179C>T (p.Leu1727=) c.5089C>T (p.Leu1697=) c.5214C>T n.3377C>T c.5287C>T (p.Leu1763=) n.4108C>T n.2545C>T n.2516C>T n.2406C>T c.4948C>T (p.Leu1650=) c.*4460C>T (n.*4460C>T) c.4984C>T (p.Leu1662=) n.3016C>T c.1475C>T n.2408C>T c.5347C>T (p.Leu1783=) c.5344C>T (p.Leu1782=) c.5236C>T (p.Leu1746=) c.5215C>T (p.Leu1739=) c.4561C>T (p.Leu1521=) c.5509C>T (p.Leu1837=) c.5257C>T (p.Leu1753=) c.4003C>T (p.Leu1335=) | ClinVar dbSNP gnomAD v4 |
| 16 | g.2088480_2088482dup | CA2573151989 | TSC2 | c.*3643_*3645dup (n.*3643_*3645dup) c.5141_5143dup (p.Leu1714_Pro1715insLeu) c.5291_5293dup (p.Leu1764_Pro1765insLeu) c.*5807_*5809dup (n.*5807_*5809dup) c.*8043_*8045dup (n.*8043_*8045dup) c.5294_5296dup (p.Leu1765_Pro1766insLeu) c.5225_5227dup (p.Leu1742_Pro1743insLeu) c.5093_5095dup (p.Leu1698_Pro1699insLeu) c.5126_5128dup (p.Leu1709_Pro1710insLeu) c.1517_1519dup n.3176_3178dup c.3948_3950dup c.5153_5155dup (p.Leu1718_Pro1719insLeu) n.891_893dup c.5096_5098dup (p.Leu1699_Pro1700insLeu) c.5162_5164dup (p.Leu1721_Pro1722insLeu) c.5087_5089dup (p.Leu1696_Pro1697insLeu) n.2942_2944dup c.5219_5221dup (p.Leu1740_Pro1741insLeu) c.5165_5167dup (p.Leu1722_Pro1723insLeu) c.5180_5182dup (p.Leu1727_Pro1728insLeu) c.5090_5092dup (p.Leu1697_Pro1698insLeu) c.5215_5217dup n.3378_3380dup c.5288_5290dup (p.Leu1763_Pro1764insLeu) n.4109_4111dup n.2546_2548dup n.2517_2519dup n.2407_2409dup c.4949_4951dup (p.Leu1650_Pro1651insLeu) c.*4461_*4463dup (n.*4461_*4463dup) c.4985_4987dup (p.Leu1662_Pro1663insLeu) n.3017_3019dup c.1476_1478dup n.2409_2411dup c.5348_5350dup (p.Leu1783_Pro1784insLeu) c.5345_5347dup (p.Leu1782_Pro1783insLeu) c.5237_5239dup (p.Leu1746_Pro1747insLeu) c.5216_5218dup (p.Leu1739_Pro1740insLeu) c.4562_4564dup (p.Leu1521_Pro1522insLeu) c.5510_5512dup (p.Leu1837_Pro1838insLeu) c.5258_5260dup (p.Leu1753_Pro1754insLeu) c.4004_4006dup (p.Leu1335_Pro1336insLeu) | ClinVar dbSNP |
| 16 | g.2088480T>A | CA394315290 | TSC2 | c.*3643T>A (n.*3643T>A) c.5141T>A (p.Leu1714Gln) c.5291T>A (p.Leu1764Gln) c.*5807T>A (n.*5807T>A) c.*8043T>A (n.*8043T>A) c.5294T>A (p.Leu1765Gln) c.5225T>A (p.Leu1742Gln) c.5093T>A (p.Leu1698Gln) c.5126T>A (p.Leu1709Gln) c.1517T>A n.3176T>A c.3948T>A c.5153T>A (p.Leu1718Gln) n.891T>A c.5096T>A (p.Leu1699Gln) c.5162T>A (p.Leu1721Gln) c.5087T>A (p.Leu1696Gln) n.2942T>A c.5219T>A (p.Leu1740Gln) c.5165T>A (p.Leu1722Gln) c.5180T>A (p.Leu1727Gln) c.5090T>A (p.Leu1697Gln) c.5215T>A n.3378T>A c.5288T>A (p.Leu1763Gln) n.4109T>A n.2546T>A n.2517T>A n.2407T>A c.4949T>A (p.Leu1650Gln) c.*4461T>A (n.*4461T>A) c.4985T>A (p.Leu1662Gln) n.3017T>A c.1476T>A n.2409T>A c.5348T>A (p.Leu1783Gln) c.5345T>A (p.Leu1782Gln) c.5237T>A (p.Leu1746Gln) c.5216T>A (p.Leu1739Gln) c.4562T>A (p.Leu1521Gln) c.5510T>A (p.Leu1837Gln) c.5258T>A (p.Leu1753Gln) c.4004T>A (p.Leu1335Gln) | |
| 16 | g.2088480T>C | CA394315295 | TSC2 | c.*3643T>C (n.*3643T>C) c.5141T>C (p.Leu1714Pro) c.5291T>C (p.Leu1764Pro) c.*5807T>C (n.*5807T>C) c.*8043T>C (n.*8043T>C) c.5294T>C (p.Leu1765Pro) c.5225T>C (p.Leu1742Pro) c.5093T>C (p.Leu1698Pro) c.5126T>C (p.Leu1709Pro) c.1517T>C n.3176T>C c.3948T>C c.5153T>C (p.Leu1718Pro) n.891T>C c.5096T>C (p.Leu1699Pro) c.5162T>C (p.Leu1721Pro) c.5087T>C (p.Leu1696Pro) n.2942T>C c.5219T>C (p.Leu1740Pro) c.5165T>C (p.Leu1722Pro) c.5180T>C (p.Leu1727Pro) c.5090T>C (p.Leu1697Pro) c.5215T>C n.3378T>C c.5288T>C (p.Leu1763Pro) n.4109T>C n.2546T>C n.2517T>C n.2407T>C c.4949T>C (p.Leu1650Pro) c.*4461T>C (n.*4461T>C) c.4985T>C (p.Leu1662Pro) n.3017T>C c.1476T>C n.2409T>C c.5348T>C (p.Leu1783Pro) c.5345T>C (p.Leu1782Pro) c.5237T>C (p.Leu1746Pro) c.5216T>C (p.Leu1739Pro) c.4562T>C (p.Leu1521Pro) c.5510T>C (p.Leu1837Pro) c.5258T>C (p.Leu1753Pro) c.4004T>C (p.Leu1335Pro) | ClinVar dbSNP |
| 16 | g.2088480T>G | CA394315297 | TSC2 | c.*3643T>G (n.*3643T>G) c.5141T>G (p.Leu1714Arg) c.5291T>G (p.Leu1764Arg) c.*5807T>G (n.*5807T>G) c.*8043T>G (n.*8043T>G) c.5294T>G (p.Leu1765Arg) c.5225T>G (p.Leu1742Arg) c.5093T>G (p.Leu1698Arg) c.5126T>G (p.Leu1709Arg) c.1517T>G n.3176T>G c.3948T>G c.5153T>G (p.Leu1718Arg) n.891T>G c.5096T>G (p.Leu1699Arg) c.5162T>G (p.Leu1721Arg) c.5087T>G (p.Leu1696Arg) n.2942T>G c.5219T>G (p.Leu1740Arg) c.5165T>G (p.Leu1722Arg) c.5180T>G (p.Leu1727Arg) c.5090T>G (p.Leu1697Arg) c.5215T>G n.3378T>G c.5288T>G (p.Leu1763Arg) n.4109T>G n.2546T>G n.2517T>G n.2407T>G c.4949T>G (p.Leu1650Arg) c.*4461T>G (n.*4461T>G) c.4985T>G (p.Leu1662Arg) n.3017T>G c.1476T>G n.2409T>G c.5348T>G (p.Leu1783Arg) c.5345T>G (p.Leu1782Arg) c.5237T>G (p.Leu1746Arg) c.5216T>G (p.Leu1739Arg) c.4562T>G (p.Leu1521Arg) c.5510T>G (p.Leu1837Arg) c.5258T>G (p.Leu1753Arg) c.4004T>G (p.Leu1335Arg) | |
| 16 | g.2088481A>C | CA493043676 | TSC2 | c.*3644A>C (n.*3644A>C) c.5142A>C (p.Leu1714=) c.5292A>C (p.Leu1764=) c.*5808A>C (n.*5808A>C) c.*8044A>C (n.*8044A>C) c.5295A>C (p.Leu1765=) c.5226A>C (p.Leu1742=) c.5094A>C (p.Leu1698=) c.5127A>C (p.Leu1709=) c.1518A>C n.3177A>C c.3949A>C c.5154A>C (p.Leu1718=) n.892A>C c.5097A>C (p.Leu1699=) c.5163A>C (p.Leu1721=) c.5088A>C (p.Leu1696=) n.2943A>C c.5220A>C (p.Leu1740=) c.5166A>C (p.Leu1722=) c.5181A>C (p.Leu1727=) c.5091A>C (p.Leu1697=) c.5216A>C n.3379A>C c.5289A>C (p.Leu1763=) n.4110A>C n.2547A>C n.2518A>C n.2408A>C c.4950A>C (p.Leu1650=) c.*4462A>C (n.*4462A>C) c.4986A>C (p.Leu1662=) n.3018A>C c.1477A>C n.2410A>C c.5349A>C (p.Leu1783=) c.5346A>C (p.Leu1782=) c.5238A>C (p.Leu1746=) c.5217A>C (p.Leu1739=) c.4563A>C (p.Leu1521=) c.5511A>C (p.Leu1837=) c.5259A>C (p.Leu1753=) c.4005A>C (p.Leu1335=) | ClinVar |
| 16 | g.2088481A>G | CA493043678 | TSC2 | c.*3644A>G (n.*3644A>G) c.5142A>G (p.Leu1714=) c.5292A>G (p.Leu1764=) c.*5808A>G (n.*5808A>G) c.*8044A>G (n.*8044A>G) c.5295A>G (p.Leu1765=) c.5226A>G (p.Leu1742=) c.5094A>G (p.Leu1698=) c.5127A>G (p.Leu1709=) c.1518A>G n.3177A>G c.3949A>G c.5154A>G (p.Leu1718=) n.892A>G c.5097A>G (p.Leu1699=) c.5163A>G (p.Leu1721=) c.5088A>G (p.Leu1696=) n.2943A>G c.5220A>G (p.Leu1740=) c.5166A>G (p.Leu1722=) c.5181A>G (p.Leu1727=) c.5091A>G (p.Leu1697=) c.5216A>G n.3379A>G c.5289A>G (p.Leu1763=) n.4110A>G n.2547A>G n.2518A>G n.2408A>G c.4950A>G (p.Leu1650=) c.*4462A>G (n.*4462A>G) c.4986A>G (p.Leu1662=) n.3018A>G c.1477A>G n.2410A>G c.5349A>G (p.Leu1783=) c.5346A>G (p.Leu1782=) c.5238A>G (p.Leu1746=) c.5217A>G (p.Leu1739=) c.4563A>G (p.Leu1521=) c.5511A>G (p.Leu1837=) c.5259A>G (p.Leu1753=) c.4005A>G (p.Leu1335=) | ClinVar dbSNP |
| 16 | g.2088481A>T | CA493043680 | TSC2 | c.*3644A>T (n.*3644A>T) c.5142A>T (p.Leu1714=) c.5292A>T (p.Leu1764=) c.*5808A>T (n.*5808A>T) c.*8044A>T (n.*8044A>T) c.5295A>T (p.Leu1765=) c.5226A>T (p.Leu1742=) c.5094A>T (p.Leu1698=) c.5127A>T (p.Leu1709=) c.1518A>T n.3177A>T c.3949A>T c.5154A>T (p.Leu1718=) n.892A>T c.5097A>T (p.Leu1699=) c.5163A>T (p.Leu1721=) c.5088A>T (p.Leu1696=) n.2943A>T c.5220A>T (p.Leu1740=) c.5166A>T (p.Leu1722=) c.5181A>T (p.Leu1727=) c.5091A>T (p.Leu1697=) c.5216A>T n.3379A>T c.5289A>T (p.Leu1763=) n.4110A>T n.2547A>T n.2518A>T n.2408A>T c.4950A>T (p.Leu1650=) c.*4462A>T (n.*4462A>T) c.4986A>T (p.Leu1662=) n.3018A>T c.1477A>T n.2410A>T c.5349A>T (p.Leu1783=) c.5346A>T (p.Leu1782=) c.5238A>T (p.Leu1746=) c.5217A>T (p.Leu1739=) c.4563A>T (p.Leu1521=) c.5511A>T (p.Leu1837=) c.5259A>T (p.Leu1753=) c.4005A>T (p.Leu1335=) | |
| 16 | g.2088481_2088483dup | CA2631119456 | TSC2 | c.*3644_*3646dup (n.*3644_*3646dup) c.5142_5144dup (p.Pro1715_Leu1716insPro) c.5292_5294dup (p.Pro1765_Leu1766insPro) c.*5808_*5810dup (n.*5808_*5810dup) c.*8044_*8046dup (n.*8044_*8046dup) c.5295_5297dup (p.Pro1766_Leu1767insPro) c.5226_5228dup (p.Pro1743_Leu1744insPro) c.5094_5096dup (p.Pro1699_Leu1700insPro) c.5127_5129dup (p.Pro1710_Leu1711insPro) c.1518_1520dup n.3177_3179dup c.3949_3951dup c.5154_5156dup (p.Pro1719_Leu1720insPro) n.892_894dup c.5097_5099dup (p.Pro1700_Leu1701insPro) c.5163_5165dup (p.Pro1722_Leu1723insPro) c.5088_5090dup (p.Pro1697_Leu1698insPro) n.2943_2945dup c.5220_5222dup (p.Pro1741_Leu1742insPro) c.5166_5168dup (p.Pro1723_Leu1724insPro) c.5181_5183dup (p.Pro1728_Leu1729insPro) c.5091_5093dup (p.Pro1698_Leu1699insPro) c.5216_5218dup n.3379_3381dup c.5289_5291dup (p.Pro1764_Leu1765insPro) n.4110_4112dup n.2547_2549dup n.2518_2520dup n.2408_2410dup c.4950_4952dup (p.Pro1651_Leu1652insPro) c.*4462_*4464dup (n.*4462_*4464dup) c.4986_4988dup (p.Pro1663_Leu1664insPro) n.3018_3020dup c.1477_1479dup n.2410_2412dup c.5349_5351dup (p.Pro1784_Leu1785insPro) c.5346_5348dup (p.Pro1783_Leu1784insPro) c.5238_5240dup (p.Pro1747_Leu1748insPro) c.5217_5219dup (p.Pro1740_Leu1741insPro) c.4563_4565dup (p.Pro1522_Leu1523insPro) c.5511_5513dup (p.Pro1838_Leu1839insPro) c.5259_5261dup (p.Pro1754_Leu1755insPro) c.4005_4007dup (p.Pro1336_Leu1337insPro) | gnomAD v4 |
| 16 | g.2088482C>A | CA394315303 | TSC2 | c.*3645C>A (n.*3645C>A) c.5143C>A (p.Pro1715Thr) c.5293C>A (p.Pro1765Thr) c.*5809C>A (n.*5809C>A) c.*8045C>A (n.*8045C>A) c.5296C>A (p.Pro1766Thr) c.5227C>A (p.Pro1743Thr) c.5095C>A (p.Pro1699Thr) c.5128C>A (p.Pro1710Thr) c.1519C>A n.3178C>A c.3950C>A c.5155C>A (p.Pro1719Thr) n.893C>A c.5098C>A (p.Pro1700Thr) c.5164C>A (p.Pro1722Thr) c.5089C>A (p.Pro1697Thr) n.2944C>A c.5221C>A (p.Pro1741Thr) c.5167C>A (p.Pro1723Thr) c.5182C>A (p.Pro1728Thr) c.5092C>A (p.Pro1698Thr) c.5217C>A n.3380C>A c.5290C>A (p.Pro1764Thr) n.4111C>A n.2548C>A n.2519C>A n.2409C>A c.4951C>A (p.Pro1651Thr) c.*4463C>A (n.*4463C>A) c.4987C>A (p.Pro1663Thr) n.3019C>A c.1478C>A n.2411C>A c.5350C>A (p.Pro1784Thr) c.5347C>A (p.Pro1783Thr) c.5239C>A (p.Pro1747Thr) c.5218C>A (p.Pro1740Thr) c.4564C>A (p.Pro1522Thr) c.5512C>A (p.Pro1838Thr) c.5260C>A (p.Pro1754Thr) c.4006C>A (p.Pro1336Thr) | |
| 16 | g.2088482C= | CA2202033581 | TSC2 | c.*3645C= (n.*3645C=) c.5143C= (p.Pro1715=) c.5293C= (p.Pro1765=) c.*5809C= (n.*5809C=) c.*8045C= (n.*8045C=) c.5296C= (p.Pro1766=) c.5227C= (p.Pro1743=) c.5095C= (p.Pro1699=) c.5128C= (p.Pro1710=) c.1519C= n.3178C= c.3950C= c.5155C= (p.Pro1719=) n.893C= c.5098C= (p.Pro1700=) c.5164C= (p.Pro1722=) c.5089C= (p.Pro1697=) n.2944C= c.5221C= (p.Pro1741=) c.5167C= (p.Pro1723=) c.5182C= (p.Pro1728=) c.5092C= (p.Pro1698=) c.5217C= n.3380C= c.5290C= (p.Pro1764=) n.4111C= n.2548C= n.2519C= n.2409C= c.4951C= (p.Pro1651=) c.*4463C= (n.*4463C=) c.4987C= (p.Pro1663=) n.3019C= c.1478C= n.2411C= c.5350C= (p.Pro1784=) c.5347C= (p.Pro1783=) c.5239C= (p.Pro1747=) c.5218C= (p.Pro1740=) c.4564C= (p.Pro1522=) c.5512C= (p.Pro1838=) c.5260C= (p.Pro1754=) c.4006C= (p.Pro1336=) | |
| 16 | g.2088482C>G | CA394315305 | TSC2 | c.*3645C>G (n.*3645C>G) c.5143C>G (p.Pro1715Ala) c.5293C>G (p.Pro1765Ala) c.*5809C>G (n.*5809C>G) c.*8045C>G (n.*8045C>G) c.5296C>G (p.Pro1766Ala) c.5227C>G (p.Pro1743Ala) c.5095C>G (p.Pro1699Ala) c.5128C>G (p.Pro1710Ala) c.1519C>G n.3178C>G c.3950C>G c.5155C>G (p.Pro1719Ala) n.893C>G c.5098C>G (p.Pro1700Ala) c.5164C>G (p.Pro1722Ala) c.5089C>G (p.Pro1697Ala) n.2944C>G c.5221C>G (p.Pro1741Ala) c.5167C>G (p.Pro1723Ala) c.5182C>G (p.Pro1728Ala) c.5092C>G (p.Pro1698Ala) c.5217C>G n.3380C>G c.5290C>G (p.Pro1764Ala) n.4111C>G n.2548C>G n.2519C>G n.2409C>G c.4951C>G (p.Pro1651Ala) c.*4463C>G (n.*4463C>G) c.4987C>G (p.Pro1663Ala) n.3019C>G c.1478C>G n.2411C>G c.5350C>G (p.Pro1784Ala) c.5347C>G (p.Pro1783Ala) c.5239C>G (p.Pro1747Ala) c.5218C>G (p.Pro1740Ala) c.4564C>G (p.Pro1522Ala) c.5512C>G (p.Pro1838Ala) c.5260C>G (p.Pro1754Ala) c.4006C>G (p.Pro1336Ala) | |
| 16 | g.2088482C>T | CA054989 | TSC2 | c.*3645C>T (n.*3645C>T) c.5143C>T (p.Pro1715Ser) c.5293C>T (p.Pro1765Ser) c.*5809C>T (n.*5809C>T) c.*8045C>T (n.*8045C>T) c.5296C>T (p.Pro1766Ser) c.5227C>T (p.Pro1743Ser) c.5095C>T (p.Pro1699Ser) c.5128C>T (p.Pro1710Ser) c.1519C>T n.3178C>T c.3950C>T c.5155C>T (p.Pro1719Ser) n.893C>T c.5098C>T (p.Pro1700Ser) c.5164C>T (p.Pro1722Ser) c.5089C>T (p.Pro1697Ser) n.2944C>T c.5221C>T (p.Pro1741Ser) c.5167C>T (p.Pro1723Ser) c.5182C>T (p.Pro1728Ser) c.5092C>T (p.Pro1698Ser) c.5217C>T n.3380C>T c.5290C>T (p.Pro1764Ser) n.4111C>T n.2548C>T n.2519C>T n.2409C>T c.4951C>T (p.Pro1651Ser) c.*4463C>T (n.*4463C>T) c.4987C>T (p.Pro1663Ser) n.3019C>T c.1478C>T n.2411C>T c.5350C>T (p.Pro1784Ser) c.5347C>T (p.Pro1783Ser) c.5239C>T (p.Pro1747Ser) c.5218C>T (p.Pro1740Ser) c.4564C>T (p.Pro1522Ser) c.5512C>T (p.Pro1838Ser) c.5260C>T (p.Pro1754Ser) c.4006C>T (p.Pro1336Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2088483C>A | CA394315314 | TSC2 | c.*3646C>A (n.*3646C>A) c.5144C>A (p.Pro1715His) c.5294C>A (p.Pro1765His) c.*5810C>A (n.*5810C>A) c.*8046C>A (n.*8046C>A) c.5297C>A (p.Pro1766His) c.5228C>A (p.Pro1743His) c.5096C>A (p.Pro1699His) c.5129C>A (p.Pro1710His) c.1520C>A n.3179C>A c.3951C>A c.5156C>A (p.Pro1719His) n.894C>A c.5099C>A (p.Pro1700His) c.5165C>A (p.Pro1722His) c.5090C>A (p.Pro1697His) n.2945C>A c.5222C>A (p.Pro1741His) c.5168C>A (p.Pro1723His) c.5183C>A (p.Pro1728His) c.5093C>A (p.Pro1698His) c.5218C>A n.3381C>A c.5291C>A (p.Pro1764His) n.4112C>A n.2549C>A n.2520C>A n.2410C>A c.4952C>A (p.Pro1651His) c.*4464C>A (n.*4464C>A) c.4988C>A (p.Pro1663His) n.3020C>A c.1479C>A n.2412C>A c.5351C>A (p.Pro1784His) c.5348C>A (p.Pro1783His) c.5240C>A (p.Pro1747His) c.5219C>A (p.Pro1740His) c.4565C>A (p.Pro1522His) c.5513C>A (p.Pro1838His) c.5261C>A (p.Pro1754His) c.4007C>A (p.Pro1336His) | |
| 16 | g.2088483C= | CA2202033587 | TSC2 | c.*3646C= (n.*3646C=) c.5144C= (p.Pro1715=) c.5294C= (p.Pro1765=) c.*5810C= (n.*5810C=) c.*8046C= (n.*8046C=) c.5297C= (p.Pro1766=) c.5228C= (p.Pro1743=) c.5096C= (p.Pro1699=) c.5129C= (p.Pro1710=) c.1520C= n.3179C= c.3951C= c.5156C= (p.Pro1719=) n.894C= c.5099C= (p.Pro1700=) c.5165C= (p.Pro1722=) c.5090C= (p.Pro1697=) n.2945C= c.5222C= (p.Pro1741=) c.5168C= (p.Pro1723=) c.5183C= (p.Pro1728=) c.5093C= (p.Pro1698=) c.5218C= n.3381C= c.5291C= (p.Pro1764=) n.4112C= n.2549C= n.2520C= n.2410C= c.4952C= (p.Pro1651=) c.*4464C= (n.*4464C=) c.4988C= (p.Pro1663=) n.3020C= c.1479C= n.2412C= c.5351C= (p.Pro1784=) c.5348C= (p.Pro1783=) c.5240C= (p.Pro1747=) c.5219C= (p.Pro1740=) c.4565C= (p.Pro1522=) c.5513C= (p.Pro1838=) c.5261C= (p.Pro1754=) c.4007C= (p.Pro1336=) | |
| 16 | g.2088483C>G | CA054992 | TSC2 | c.*3646C>G (n.*3646C>G) c.5144C>G (p.Pro1715Arg) c.5294C>G (p.Pro1765Arg) c.*5810C>G (n.*5810C>G) c.*8046C>G (n.*8046C>G) c.5297C>G (p.Pro1766Arg) c.5228C>G (p.Pro1743Arg) c.5096C>G (p.Pro1699Arg) c.5129C>G (p.Pro1710Arg) c.1520C>G n.3179C>G c.3951C>G c.5156C>G (p.Pro1719Arg) n.894C>G c.5099C>G (p.Pro1700Arg) c.5165C>G (p.Pro1722Arg) c.5090C>G (p.Pro1697Arg) n.2945C>G c.5222C>G (p.Pro1741Arg) c.5168C>G (p.Pro1723Arg) c.5183C>G (p.Pro1728Arg) c.5093C>G (p.Pro1698Arg) c.5218C>G n.3381C>G c.5291C>G (p.Pro1764Arg) n.4112C>G n.2549C>G n.2520C>G n.2410C>G c.4952C>G (p.Pro1651Arg) c.*4464C>G (n.*4464C>G) c.4988C>G (p.Pro1663Arg) n.3020C>G c.1479C>G n.2412C>G c.5351C>G (p.Pro1784Arg) c.5348C>G (p.Pro1783Arg) c.5240C>G (p.Pro1747Arg) c.5219C>G (p.Pro1740Arg) c.4565C>G (p.Pro1522Arg) c.5513C>G (p.Pro1838Arg) c.5261C>G (p.Pro1754Arg) c.4007C>G (p.Pro1336Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.2088483C>T | CA276759930 | TSC2 | c.*3646C>T (n.*3646C>T) c.5144C>T (p.Pro1715Leu) c.5294C>T (p.Pro1765Leu) c.*5810C>T (n.*5810C>T) c.*8046C>T (n.*8046C>T) c.5297C>T (p.Pro1766Leu) c.5228C>T (p.Pro1743Leu) c.5096C>T (p.Pro1699Leu) c.5129C>T (p.Pro1710Leu) c.1520C>T n.3179C>T c.3951C>T c.5156C>T (p.Pro1719Leu) n.894C>T c.5099C>T (p.Pro1700Leu) c.5165C>T (p.Pro1722Leu) c.5090C>T (p.Pro1697Leu) n.2945C>T c.5222C>T (p.Pro1741Leu) c.5168C>T (p.Pro1723Leu) c.5183C>T (p.Pro1728Leu) c.5093C>T (p.Pro1698Leu) c.5218C>T n.3381C>T c.5291C>T (p.Pro1764Leu) n.4112C>T n.2549C>T n.2520C>T n.2410C>T c.4952C>T (p.Pro1651Leu) c.*4464C>T (n.*4464C>T) c.4988C>T (p.Pro1663Leu) n.3020C>T c.1479C>T n.2412C>T c.5351C>T (p.Pro1784Leu) c.5348C>T (p.Pro1783Leu) c.5240C>T (p.Pro1747Leu) c.5219C>T (p.Pro1740Leu) c.4565C>T (p.Pro1522Leu) c.5513C>T (p.Pro1838Leu) c.5261C>T (p.Pro1754Leu) c.4007C>T (p.Pro1336Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.2088484T>A | CA493043681 | TSC2 | c.*3647T>A (n.*3647T>A) c.5145T>A (p.Pro1715=) c.5295T>A (p.Pro1765=) c.*5811T>A (n.*5811T>A) c.*8047T>A (n.*8047T>A) c.5298T>A (p.Pro1766=) c.5229T>A (p.Pro1743=) c.5097T>A (p.Pro1699=) c.5130T>A (p.Pro1710=) c.1521T>A n.3180T>A c.3952T>A c.5157T>A (p.Pro1719=) n.895T>A c.5100T>A (p.Pro1700=) c.5166T>A (p.Pro1722=) c.5091T>A (p.Pro1697=) n.2946T>A c.5223T>A (p.Pro1741=) c.5169T>A (p.Pro1723=) c.5184T>A (p.Pro1728=) c.5094T>A (p.Pro1698=) c.5219T>A n.3382T>A c.5292T>A (p.Pro1764=) n.4113T>A n.2550T>A n.2521T>A n.2411T>A c.4953T>A (p.Pro1651=) c.*4465T>A (n.*4465T>A) c.4989T>A (p.Pro1663=) n.3021T>A c.1480T>A n.2413T>A c.5352T>A (p.Pro1784=) c.5349T>A (p.Pro1783=) c.5241T>A (p.Pro1747=) c.5220T>A (p.Pro1740=) c.4566T>A (p.Pro1522=) c.5514T>A (p.Pro1838=) c.5262T>A (p.Pro1754=) c.4008T>A (p.Pro1336=) | ClinVar dbSNP |
| 16 | g.2088484T>C | CA493043682 | TSC2 | c.*3647T>C (n.*3647T>C) c.5145T>C (p.Pro1715=) c.5295T>C (p.Pro1765=) c.*5811T>C (n.*5811T>C) c.*8047T>C (n.*8047T>C) c.5298T>C (p.Pro1766=) c.5229T>C (p.Pro1743=) c.5097T>C (p.Pro1699=) c.5130T>C (p.Pro1710=) c.1521T>C n.3180T>C c.3952T>C c.5157T>C (p.Pro1719=) n.895T>C c.5100T>C (p.Pro1700=) c.5166T>C (p.Pro1722=) c.5091T>C (p.Pro1697=) n.2946T>C c.5223T>C (p.Pro1741=) c.5169T>C (p.Pro1723=) c.5184T>C (p.Pro1728=) c.5094T>C (p.Pro1698=) c.5219T>C n.3382T>C c.5292T>C (p.Pro1764=) n.4113T>C n.2550T>C n.2521T>C n.2411T>C c.4953T>C (p.Pro1651=) c.*4465T>C (n.*4465T>C) c.4989T>C (p.Pro1663=) n.3021T>C c.1480T>C n.2413T>C c.5352T>C (p.Pro1784=) c.5349T>C (p.Pro1783=) c.5241T>C (p.Pro1747=) c.5220T>C (p.Pro1740=) c.4566T>C (p.Pro1522=) c.5514T>C (p.Pro1838=) c.5262T>C (p.Pro1754=) c.4008T>C (p.Pro1336=) | gnomAD v4 |
| 16 | g.2088484T>G | CA493043683 | TSC2 | c.*3647T>G (n.*3647T>G) c.5145T>G (p.Pro1715=) c.5295T>G (p.Pro1765=) c.*5811T>G (n.*5811T>G) c.*8047T>G (n.*8047T>G) c.5298T>G (p.Pro1766=) c.5229T>G (p.Pro1743=) c.5097T>G (p.Pro1699=) c.5130T>G (p.Pro1710=) c.1521T>G n.3180T>G c.3952T>G c.5157T>G (p.Pro1719=) n.895T>G c.5100T>G (p.Pro1700=) c.5166T>G (p.Pro1722=) c.5091T>G (p.Pro1697=) n.2946T>G c.5223T>G (p.Pro1741=) c.5169T>G (p.Pro1723=) c.5184T>G (p.Pro1728=) c.5094T>G (p.Pro1698=) c.5219T>G n.3382T>G c.5292T>G (p.Pro1764=) n.4113T>G n.2550T>G n.2521T>G n.2411T>G c.4953T>G (p.Pro1651=) c.*4465T>G (n.*4465T>G) c.4989T>G (p.Pro1663=) n.3021T>G c.1480T>G n.2413T>G c.5352T>G (p.Pro1784=) c.5349T>G (p.Pro1783=) c.5241T>G (p.Pro1747=) c.5220T>G (p.Pro1740=) c.4566T>G (p.Pro1522=) c.5514T>G (p.Pro1838=) c.5262T>G (p.Pro1754=) c.4008T>G (p.Pro1336=) | |
| 16 | g.2088485C>A | CA276759934 | TSC2 | c.*3648C>A (n.*3648C>A) c.5146C>A (p.Leu1716Met) c.5296C>A (p.Leu1766Met) c.*5812C>A (n.*5812C>A) c.*8048C>A (n.*8048C>A) c.5299C>A (p.Leu1767Met) c.5230C>A (p.Leu1744Met) c.5098C>A (p.Leu1700Met) c.5131C>A (p.Leu1711Met) c.1522C>A n.3181C>A c.3953C>A c.5158C>A (p.Leu1720Met) n.896C>A c.5101C>A (p.Leu1701Met) c.5167C>A (p.Leu1723Met) c.5092C>A (p.Leu1698Met) n.2947C>A c.5224C>A (p.Leu1742Met) c.5170C>A (p.Leu1724Met) c.5185C>A (p.Leu1729Met) c.5095C>A (p.Leu1699Met) c.5220C>A n.3383C>A c.5293C>A (p.Leu1765Met) n.4114C>A n.2551C>A n.2522C>A n.2412C>A c.4954C>A (p.Leu1652Met) c.*4466C>A (n.*4466C>A) c.4990C>A (p.Leu1664Met) n.3022C>A c.1481C>A n.2414C>A c.5353C>A (p.Leu1785Met) c.5350C>A (p.Leu1784Met) c.5242C>A (p.Leu1748Met) c.5221C>A (p.Leu1741Met) c.4567C>A (p.Leu1523Met) c.5515C>A (p.Leu1839Met) c.5263C>A (p.Leu1755Met) c.4009C>A (p.Leu1337Met) | ClinVar dbSNP |
| 16 | g.2088485C= | CA2202033599 | TSC2 | c.*3648C= (n.*3648C=) c.5146C= (p.Leu1716=) c.5296C= (p.Leu1766=) c.*5812C= (n.*5812C=) c.*8048C= (n.*8048C=) c.5299C= (p.Leu1767=) c.5230C= (p.Leu1744=) c.5098C= (p.Leu1700=) c.5131C= (p.Leu1711=) c.1522C= n.3181C= c.3953C= c.5158C= (p.Leu1720=) n.896C= c.5101C= (p.Leu1701=) c.5167C= (p.Leu1723=) c.5092C= (p.Leu1698=) n.2947C= c.5224C= (p.Leu1742=) c.5170C= (p.Leu1724=) c.5185C= (p.Leu1729=) c.5095C= (p.Leu1699=) c.5220C= n.3383C= c.5293C= (p.Leu1765=) n.4114C= n.2551C= n.2522C= n.2412C= c.4954C= (p.Leu1652=) c.*4466C= (n.*4466C=) c.4990C= (p.Leu1664=) n.3022C= c.1481C= n.2414C= c.5353C= (p.Leu1785=) c.5350C= (p.Leu1784=) c.5242C= (p.Leu1748=) c.5221C= (p.Leu1741=) c.4567C= (p.Leu1523=) c.5515C= (p.Leu1839=) c.5263C= (p.Leu1755=) c.4009C= (p.Leu1337=) | |
| 16 | g.2088485C>G | CA054998 | TSC2 | c.*3648C>G (n.*3648C>G) c.5146C>G (p.Leu1716Val) c.5296C>G (p.Leu1766Val) c.*5812C>G (n.*5812C>G) c.*8048C>G (n.*8048C>G) c.5299C>G (p.Leu1767Val) c.5230C>G (p.Leu1744Val) c.5098C>G (p.Leu1700Val) c.5131C>G (p.Leu1711Val) c.1522C>G n.3181C>G c.3953C>G c.5158C>G (p.Leu1720Val) n.896C>G c.5101C>G (p.Leu1701Val) c.5167C>G (p.Leu1723Val) c.5092C>G (p.Leu1698Val) n.2947C>G c.5224C>G (p.Leu1742Val) c.5170C>G (p.Leu1724Val) c.5185C>G (p.Leu1729Val) c.5095C>G (p.Leu1699Val) c.5220C>G n.3383C>G c.5293C>G (p.Leu1765Val) n.4114C>G n.2551C>G n.2522C>G n.2412C>G c.4954C>G (p.Leu1652Val) c.*4466C>G (n.*4466C>G) c.4990C>G (p.Leu1664Val) n.3022C>G c.1481C>G n.2414C>G c.5353C>G (p.Leu1785Val) c.5350C>G (p.Leu1784Val) c.5242C>G (p.Leu1748Val) c.5221C>G (p.Leu1741Val) c.4567C>G (p.Leu1523Val) c.5515C>G (p.Leu1839Val) c.5263C>G (p.Leu1755Val) c.4009C>G (p.Leu1337Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2088485C>T | CA276759940 | TSC2 | c.*3648C>T (n.*3648C>T) c.5146C>T (p.Leu1716=) c.5296C>T (p.Leu1766=) c.*5812C>T (n.*5812C>T) c.*8048C>T (n.*8048C>T) c.5299C>T (p.Leu1767=) c.5230C>T (p.Leu1744=) c.5098C>T (p.Leu1700=) c.5131C>T (p.Leu1711=) c.1522C>T n.3181C>T c.3953C>T c.5158C>T (p.Leu1720=) n.896C>T c.5101C>T (p.Leu1701=) c.5167C>T (p.Leu1723=) c.5092C>T (p.Leu1698=) n.2947C>T c.5224C>T (p.Leu1742=) c.5170C>T (p.Leu1724=) c.5185C>T (p.Leu1729=) c.5095C>T (p.Leu1699=) c.5220C>T n.3383C>T c.5293C>T (p.Leu1765=) n.4114C>T n.2551C>T n.2522C>T n.2412C>T c.4954C>T (p.Leu1652=) c.*4466C>T (n.*4466C>T) c.4990C>T (p.Leu1664=) n.3022C>T c.1481C>T n.2414C>T c.5353C>T (p.Leu1785=) c.5350C>T (p.Leu1784=) c.5242C>T (p.Leu1748=) c.5221C>T (p.Leu1741=) c.4567C>T (p.Leu1523=) c.5515C>T (p.Leu1839=) c.5263C>T (p.Leu1755=) c.4009C>T (p.Leu1337=) | ClinVar dbSNP |
| 16 | g.2088486T>A | CA394315331 | TSC2 | c.*3649T>A (n.*3649T>A) c.5147T>A (p.Leu1716Gln) c.5297T>A (p.Leu1766Gln) c.*5813T>A (n.*5813T>A) c.*8049T>A (n.*8049T>A) c.5300T>A (p.Leu1767Gln) c.5231T>A (p.Leu1744Gln) c.5099T>A (p.Leu1700Gln) c.5132T>A (p.Leu1711Gln) c.1523T>A n.3182T>A c.3954T>A c.5159T>A (p.Leu1720Gln) n.897T>A c.5102T>A (p.Leu1701Gln) c.5168T>A (p.Leu1723Gln) c.5093T>A (p.Leu1698Gln) n.2948T>A c.5225T>A (p.Leu1742Gln) c.5171T>A (p.Leu1724Gln) c.5186T>A (p.Leu1729Gln) c.5096T>A (p.Leu1699Gln) c.5221T>A n.3384T>A c.5294T>A (p.Leu1765Gln) n.4115T>A n.2552T>A n.2523T>A n.2413T>A c.4955T>A (p.Leu1652Gln) c.*4467T>A (n.*4467T>A) c.4991T>A (p.Leu1664Gln) n.3023T>A c.1482T>A n.2415T>A c.5354T>A (p.Leu1785Gln) c.5351T>A (p.Leu1784Gln) c.5243T>A (p.Leu1748Gln) c.5222T>A (p.Leu1741Gln) c.4568T>A (p.Leu1523Gln) c.5516T>A (p.Leu1839Gln) c.5264T>A (p.Leu1755Gln) c.4010T>A (p.Leu1337Gln) | ClinVar |
| 16 | g.2088486T>C | CA394315348 | TSC2 | c.*3649T>C (n.*3649T>C) c.5147T>C (p.Leu1716Pro) c.5297T>C (p.Leu1766Pro) c.*5813T>C (n.*5813T>C) c.*8049T>C (n.*8049T>C) c.5300T>C (p.Leu1767Pro) c.5231T>C (p.Leu1744Pro) c.5099T>C (p.Leu1700Pro) c.5132T>C (p.Leu1711Pro) c.1523T>C n.3182T>C c.3954T>C c.5159T>C (p.Leu1720Pro) n.897T>C c.5102T>C (p.Leu1701Pro) c.5168T>C (p.Leu1723Pro) c.5093T>C (p.Leu1698Pro) n.2948T>C c.5225T>C (p.Leu1742Pro) c.5171T>C (p.Leu1724Pro) c.5186T>C (p.Leu1729Pro) c.5096T>C (p.Leu1699Pro) c.5221T>C n.3384T>C c.5294T>C (p.Leu1765Pro) n.4115T>C n.2552T>C n.2523T>C n.2413T>C c.4955T>C (p.Leu1652Pro) c.*4467T>C (n.*4467T>C) c.4991T>C (p.Leu1664Pro) n.3023T>C c.1482T>C n.2415T>C c.5354T>C (p.Leu1785Pro) c.5351T>C (p.Leu1784Pro) c.5243T>C (p.Leu1748Pro) c.5222T>C (p.Leu1741Pro) c.4568T>C (p.Leu1523Pro) c.5516T>C (p.Leu1839Pro) c.5264T>C (p.Leu1755Pro) c.4010T>C (p.Leu1337Pro) | |
| 16 | g.2088486T>G | CA394315336 | TSC2 | c.*3649T>G (n.*3649T>G) c.5147T>G (p.Leu1716Arg) c.5297T>G (p.Leu1766Arg) c.*5813T>G (n.*5813T>G) c.*8049T>G (n.*8049T>G) c.5300T>G (p.Leu1767Arg) c.5231T>G (p.Leu1744Arg) c.5099T>G (p.Leu1700Arg) c.5132T>G (p.Leu1711Arg) c.1523T>G n.3182T>G c.3954T>G c.5159T>G (p.Leu1720Arg) n.897T>G c.5102T>G (p.Leu1701Arg) c.5168T>G (p.Leu1723Arg) c.5093T>G (p.Leu1698Arg) n.2948T>G c.5225T>G (p.Leu1742Arg) c.5171T>G (p.Leu1724Arg) c.5186T>G (p.Leu1729Arg) c.5096T>G (p.Leu1699Arg) c.5221T>G n.3384T>G c.5294T>G (p.Leu1765Arg) n.4115T>G n.2552T>G n.2523T>G n.2413T>G c.4955T>G (p.Leu1652Arg) c.*4467T>G (n.*4467T>G) c.4991T>G (p.Leu1664Arg) n.3023T>G c.1482T>G n.2415T>G c.5354T>G (p.Leu1785Arg) c.5351T>G (p.Leu1784Arg) c.5243T>G (p.Leu1748Arg) c.5222T>G (p.Leu1741Arg) c.4568T>G (p.Leu1523Arg) c.5516T>G (p.Leu1839Arg) c.5264T>G (p.Leu1755Arg) c.4010T>G (p.Leu1337Arg) | |
| 16 | g.2088487G>A | CA493043685 | TSC2 | c.*3650G>A (n.*3650G>A) c.5148G>A (p.Leu1716=) c.5298G>A (p.Leu1766=) c.*5814G>A (n.*5814G>A) c.*8050G>A (n.*8050G>A) c.5301G>A (p.Leu1767=) c.5232G>A (p.Leu1744=) c.5100G>A (p.Leu1700=) c.5133G>A (p.Leu1711=) c.1524G>A n.3183G>A c.3955G>A c.5160G>A (p.Leu1720=) n.898G>A c.5103G>A (p.Leu1701=) c.5169G>A (p.Leu1723=) c.5094G>A (p.Leu1698=) n.2949G>A c.5226G>A (p.Leu1742=) c.5172G>A (p.Leu1724=) c.5187G>A (p.Leu1729=) c.5097G>A (p.Leu1699=) c.5222G>A n.3385G>A c.5295G>A (p.Leu1765=) n.4116G>A n.2553G>A n.2524G>A n.2414G>A c.4956G>A (p.Leu1652=) c.*4468G>A (n.*4468G>A) c.4992G>A (p.Leu1664=) n.3024G>A c.1483G>A n.2416G>A c.5355G>A (p.Leu1785=) c.5352G>A (p.Leu1784=) c.5244G>A (p.Leu1748=) c.5223G>A (p.Leu1741=) c.4569G>A (p.Leu1523=) c.5517G>A (p.Leu1839=) c.5265G>A (p.Leu1755=) c.4011G>A (p.Leu1337=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.2088487G>C | CA10637336 | TSC2 | c.*3650G>C (n.*3650G>C) c.5148G>C (p.Leu1716=) c.5298G>C (p.Leu1766=) c.*5814G>C (n.*5814G>C) c.*8050G>C (n.*8050G>C) c.5301G>C (p.Leu1767=) c.5232G>C (p.Leu1744=) c.5100G>C (p.Leu1700=) c.5133G>C (p.Leu1711=) c.1524G>C n.3183G>C c.3955G>C c.5160G>C (p.Leu1720=) n.898G>C c.5103G>C (p.Leu1701=) c.5169G>C (p.Leu1723=) c.5094G>C (p.Leu1698=) n.2949G>C c.5226G>C (p.Leu1742=) c.5172G>C (p.Leu1724=) c.5187G>C (p.Leu1729=) c.5097G>C (p.Leu1699=) c.5222G>C n.3385G>C c.5295G>C (p.Leu1765=) n.4116G>C n.2553G>C n.2524G>C n.2414G>C c.4956G>C (p.Leu1652=) c.*4468G>C (n.*4468G>C) c.4992G>C (p.Leu1664=) n.3024G>C c.1483G>C n.2416G>C c.5355G>C (p.Leu1785=) c.5352G>C (p.Leu1784=) c.5244G>C (p.Leu1748=) c.5223G>C (p.Leu1741=) c.4569G>C (p.Leu1523=) c.5517G>C (p.Leu1839=) c.5265G>C (p.Leu1755=) c.4011G>C (p.Leu1337=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.2088487G= | CA2202033605 | TSC2 | c.*3650G= (n.*3650G=) c.5148G= (p.Leu1716=) c.5298G= (p.Leu1766=) c.*5814G= (n.*5814G=) c.*8050G= (n.*8050G=) c.5301G= (p.Leu1767=) c.5232G= (p.Leu1744=) c.5100G= (p.Leu1700=) c.5133G= (p.Leu1711=) c.1524G= n.3183G= c.3955G= c.5160G= (p.Leu1720=) n.898G= c.5103G= (p.Leu1701=) c.5169G= (p.Leu1723=) c.5094G= (p.Leu1698=) n.2949G= c.5226G= (p.Leu1742=) c.5172G= (p.Leu1724=) c.5187G= (p.Leu1729=) c.5097G= (p.Leu1699=) c.5222G= n.3385G= c.5295G= (p.Leu1765=) n.4116G= n.2553G= n.2524G= n.2414G= c.4956G= (p.Leu1652=) c.*4468G= (n.*4468G=) c.4992G= (p.Leu1664=) n.3024G= c.1483G= n.2416G= c.5355G= (p.Leu1785=) c.5352G= (p.Leu1784=) c.5244G= (p.Leu1748=) c.5223G= (p.Leu1741=) c.4569G= (p.Leu1523=) c.5517G= (p.Leu1839=) c.5265G= (p.Leu1755=) c.4011G= (p.Leu1337=) | |
| 16 | g.2088487G>T | CA493043686 | TSC2 | c.*3650G>T (n.*3650G>T) c.5148G>T (p.Leu1716=) c.5298G>T (p.Leu1766=) c.*5814G>T (n.*5814G>T) c.*8050G>T (n.*8050G>T) c.5301G>T (p.Leu1767=) c.5232G>T (p.Leu1744=) c.5100G>T (p.Leu1700=) c.5133G>T (p.Leu1711=) c.1524G>T n.3183G>T c.3955G>T c.5160G>T (p.Leu1720=) n.898G>T c.5103G>T (p.Leu1701=) c.5169G>T (p.Leu1723=) c.5094G>T (p.Leu1698=) n.2949G>T c.5226G>T (p.Leu1742=) c.5172G>T (p.Leu1724=) c.5187G>T (p.Leu1729=) c.5097G>T (p.Leu1699=) c.5222G>T n.3385G>T c.5295G>T (p.Leu1765=) n.4116G>T n.2553G>T n.2524G>T n.2414G>T c.4956G>T (p.Leu1652=) c.*4468G>T (n.*4468G>T) c.4992G>T (p.Leu1664=) n.3024G>T c.1483G>T n.2416G>T c.5355G>T (p.Leu1785=) c.5352G>T (p.Leu1784=) c.5244G>T (p.Leu1748=) c.5223G>T (p.Leu1741=) c.4569G>T (p.Leu1523=) c.5517G>T (p.Leu1839=) c.5265G>T (p.Leu1755=) c.4011G>T (p.Leu1337=) | |
| 16 | g.2088488G>A | CA394315354 | TSC2 | c.*3651G>A (n.*3651G>A) c.5149G>A (p.Val1717Met) c.5299G>A (p.Val1767Met) c.*5815G>A (n.*5815G>A) c.*8051G>A (n.*8051G>A) c.5302G>A (p.Val1768Met) c.5233G>A (p.Val1745Met) c.5101G>A (p.Val1701Met) c.5134G>A (p.Val1712Met) c.1525G>A n.3184G>A c.3956G>A c.5161G>A (p.Val1721Met) n.899G>A c.5104G>A (p.Val1702Met) c.5170G>A (p.Val1724Met) c.5095G>A (p.Val1699Met) n.2950G>A c.5227G>A (p.Val1743Met) c.5173G>A (p.Val1725Met) c.5188G>A (p.Val1730Met) c.5098G>A (p.Val1700Met) c.5223G>A n.3386G>A c.5296G>A (p.Val1766Met) n.4117G>A n.2554G>A n.2525G>A n.2415G>A c.4957G>A (p.Val1653Met) c.*4469G>A (n.*4469G>A) c.4993G>A (p.Val1665Met) n.3025G>A c.1484G>A n.2417G>A c.5356G>A (p.Val1786Met) c.5353G>A (p.Val1785Met) c.5245G>A (p.Val1749Met) c.5224G>A (p.Val1742Met) c.4570G>A (p.Val1524Met) c.5518G>A (p.Val1840Met) c.5266G>A (p.Val1756Met) c.4012G>A (p.Val1338Met) | ClinVar dbSNP |
| 16 | g.2088488G>C | CA394315356 | TSC2 | c.*3651G>C (n.*3651G>C) c.5149G>C (p.Val1717Leu) c.5299G>C (p.Val1767Leu) c.*5815G>C (n.*5815G>C) c.*8051G>C (n.*8051G>C) c.5302G>C (p.Val1768Leu) c.5233G>C (p.Val1745Leu) c.5101G>C (p.Val1701Leu) c.5134G>C (p.Val1712Leu) c.1525G>C n.3184G>C c.3956G>C c.5161G>C (p.Val1721Leu) n.899G>C c.5104G>C (p.Val1702Leu) c.5170G>C (p.Val1724Leu) c.5095G>C (p.Val1699Leu) n.2950G>C c.5227G>C (p.Val1743Leu) c.5173G>C (p.Val1725Leu) c.5188G>C (p.Val1730Leu) c.5098G>C (p.Val1700Leu) c.5223G>C n.3386G>C c.5296G>C (p.Val1766Leu) n.4117G>C n.2554G>C n.2525G>C n.2415G>C c.4957G>C (p.Val1653Leu) c.*4469G>C (n.*4469G>C) c.4993G>C (p.Val1665Leu) n.3025G>C c.1484G>C n.2417G>C c.5356G>C (p.Val1786Leu) c.5353G>C (p.Val1785Leu) c.5245G>C (p.Val1749Leu) c.5224G>C (p.Val1742Leu) c.4570G>C (p.Val1524Leu) c.5518G>C (p.Val1840Leu) c.5266G>C (p.Val1756Leu) c.4012G>C (p.Val1338Leu) | ClinVar |
| 16 | g.2088488G>T | CA394315357 | TSC2 | c.*3651G>T (n.*3651G>T) c.5149G>T (p.Val1717Leu) c.5299G>T (p.Val1767Leu) c.*5815G>T (n.*5815G>T) c.*8051G>T (n.*8051G>T) c.5302G>T (p.Val1768Leu) c.5233G>T (p.Val1745Leu) c.5101G>T (p.Val1701Leu) c.5134G>T (p.Val1712Leu) c.1525G>T n.3184G>T c.3956G>T c.5161G>T (p.Val1721Leu) n.899G>T c.5104G>T (p.Val1702Leu) c.5170G>T (p.Val1724Leu) c.5095G>T (p.Val1699Leu) n.2950G>T c.5227G>T (p.Val1743Leu) c.5173G>T (p.Val1725Leu) c.5188G>T (p.Val1730Leu) c.5098G>T (p.Val1700Leu) c.5223G>T n.3386G>T c.5296G>T (p.Val1766Leu) n.4117G>T n.2554G>T n.2525G>T n.2415G>T c.4957G>T (p.Val1653Leu) c.*4469G>T (n.*4469G>T) c.4993G>T (p.Val1665Leu) n.3025G>T c.1484G>T n.2417G>T c.5356G>T (p.Val1786Leu) c.5353G>T (p.Val1785Leu) c.5245G>T (p.Val1749Leu) c.5224G>T (p.Val1742Leu) c.4570G>T (p.Val1524Leu) c.5518G>T (p.Val1840Leu) c.5266G>T (p.Val1756Leu) c.4012G>T (p.Val1338Leu) | gnomAD v4 |
| 16 | g.2088489T>A | CA394315363 | TSC2 | c.*3652T>A (n.*3652T>A) c.5150T>A (p.Val1717Glu) c.5300T>A (p.Val1767Glu) c.*5816T>A (n.*5816T>A) c.*8052T>A (n.*8052T>A) c.5303T>A (p.Val1768Glu) c.5234T>A (p.Val1745Glu) c.5102T>A (p.Val1701Glu) c.5135T>A (p.Val1712Glu) c.1526T>A n.3185T>A c.3957T>A c.5162T>A (p.Val1721Glu) n.900T>A c.5105T>A (p.Val1702Glu) c.5171T>A (p.Val1724Glu) c.5096T>A (p.Val1699Glu) n.2951T>A c.5228T>A (p.Val1743Glu) c.5174T>A (p.Val1725Glu) c.5189T>A (p.Val1730Glu) c.5099T>A (p.Val1700Glu) c.5224T>A n.3387T>A c.5297T>A (p.Val1766Glu) n.4118T>A n.2555T>A n.2526T>A n.2416T>A c.4958T>A (p.Val1653Glu) c.*4470T>A (n.*4470T>A) c.4994T>A (p.Val1665Glu) n.3026T>A c.1485T>A n.2418T>A c.5357T>A (p.Val1786Glu) c.5354T>A (p.Val1785Glu) c.5246T>A (p.Val1749Glu) c.5225T>A (p.Val1742Glu) c.4571T>A (p.Val1524Glu) c.5519T>A (p.Val1840Glu) c.5267T>A (p.Val1756Glu) c.4013T>A (p.Val1338Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.2088489T>C | CA394315367 | TSC2 | c.*3652T>C (n.*3652T>C) c.5150T>C (p.Val1717Ala) c.5300T>C (p.Val1767Ala) c.*5816T>C (n.*5816T>C) c.*8052T>C (n.*8052T>C) c.5303T>C (p.Val1768Ala) c.5234T>C (p.Val1745Ala) c.5102T>C (p.Val1701Ala) c.5135T>C (p.Val1712Ala) c.1526T>C n.3185T>C c.3957T>C c.5162T>C (p.Val1721Ala) n.900T>C c.5105T>C (p.Val1702Ala) c.5171T>C (p.Val1724Ala) c.5096T>C (p.Val1699Ala) n.2951T>C c.5228T>C (p.Val1743Ala) c.5174T>C (p.Val1725Ala) c.5189T>C (p.Val1730Ala) c.5099T>C (p.Val1700Ala) c.5224T>C n.3387T>C c.5297T>C (p.Val1766Ala) n.4118T>C n.2555T>C n.2526T>C n.2416T>C c.4958T>C (p.Val1653Ala) c.*4470T>C (n.*4470T>C) c.4994T>C (p.Val1665Ala) n.3026T>C c.1485T>C n.2418T>C c.5357T>C (p.Val1786Ala) c.5354T>C (p.Val1785Ala) c.5246T>C (p.Val1749Ala) c.5225T>C (p.Val1742Ala) c.4571T>C (p.Val1524Ala) c.5519T>C (p.Val1840Ala) c.5267T>C (p.Val1756Ala) c.4013T>C (p.Val1338Ala) | ClinVar dbSNP gnomAD v4 |
| 16 | g.2088489T>G | CA394315371 | TSC2 | c.*3652T>G (n.*3652T>G) c.5150T>G (p.Val1717Gly) c.5300T>G (p.Val1767Gly) c.*5816T>G (n.*5816T>G) c.*8052T>G (n.*8052T>G) c.5303T>G (p.Val1768Gly) c.5234T>G (p.Val1745Gly) c.5102T>G (p.Val1701Gly) c.5135T>G (p.Val1712Gly) c.1526T>G n.3185T>G c.3957T>G c.5162T>G (p.Val1721Gly) n.900T>G c.5105T>G (p.Val1702Gly) c.5171T>G (p.Val1724Gly) c.5096T>G (p.Val1699Gly) n.2951T>G c.5228T>G (p.Val1743Gly) c.5174T>G (p.Val1725Gly) c.5189T>G (p.Val1730Gly) c.5099T>G (p.Val1700Gly) c.5224T>G n.3387T>G c.5297T>G (p.Val1766Gly) n.4118T>G n.2555T>G n.2526T>G n.2416T>G c.4958T>G (p.Val1653Gly) c.*4470T>G (n.*4470T>G) c.4994T>G (p.Val1665Gly) n.3026T>G c.1485T>G n.2418T>G c.5357T>G (p.Val1786Gly) c.5354T>G (p.Val1785Gly) c.5246T>G (p.Val1749Gly) c.5225T>G (p.Val1742Gly) c.4571T>G (p.Val1524Gly) c.5519T>G (p.Val1840Gly) c.5267T>G (p.Val1756Gly) c.4013T>G (p.Val1338Gly) | |
| 16 | g.2088489T= | CA2202033610 | TSC2 | c.*3652T= (n.*3652T=) c.5150T= (p.Val1717=) c.5300T= (p.Val1767=) c.*5816T= (n.*5816T=) c.*8052T= (n.*8052T=) c.5303T= (p.Val1768=) c.5234T= (p.Val1745=) c.5102T= (p.Val1701=) c.5135T= (p.Val1712=) c.1526T= n.3185T= c.3957T= c.5162T= (p.Val1721=) n.900T= c.5105T= (p.Val1702=) c.5171T= (p.Val1724=) c.5096T= (p.Val1699=) n.2951T= c.5228T= (p.Val1743=) c.5174T= (p.Val1725=) c.5189T= (p.Val1730=) c.5099T= (p.Val1700=) c.5224T= n.3387T= c.5297T= (p.Val1766=) n.4118T= n.2555T= n.2526T= n.2416T= c.4958T= (p.Val1653=) c.*4470T= (n.*4470T=) c.4994T= (p.Val1665=) n.3026T= c.1485T= n.2418T= c.5357T= (p.Val1786=) c.5354T= (p.Val1785=) c.5246T= (p.Val1749=) c.5225T= (p.Val1742=) c.4571T= (p.Val1524=) c.5519T= (p.Val1840=) c.5267T= (p.Val1756=) c.4013T= (p.Val1338=) | |
| 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 |