| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2088234C>G | CA16609418 | TSC2 | c.*3517C>G (n.*3517C>G) c.5015C>G (p.Ser1672Ter) c.5165C>G (p.Ser1722Ter) c.*5681C>G (n.*5681C>G) c.*7917C>G (n.*7917C>G) c.5168C>G (p.Ser1723Ter) c.5099C>G (p.Ser1700Ter) c.4967C>G (p.Ser1656Ter) c.5000C>G (p.Ser1667Ter) c.1391C>G n.3050C>G c.3822C>G c.5032-5C>G (n.5032-5C>G) n.765C>G c.4970C>G (p.Ser1657Ter) c.5036C>G (p.Ser1679Ter) c.4961C>G (p.Ser1654Ter) n.2816C>G c.5093C>G (p.Ser1698Ter) c.5039C>G (p.Ser1680Ter) c.5054C>G (p.Ser1685Ter) c.4964C>G (p.Ser1655Ter) c.5089C>G n.3252C>G c.5162C>G (p.Ser1721Ter) n.3983C>G n.2420C>G n.2391C>G n.2281C>G c.4823C>G (p.Ser1608Ter) c.*4335C>G (n.*4335C>G) c.4859C>G (p.Ser1620Ter) n.2891C>G c.1350C>G n.2283C>G c.5222C>G (p.Ser1741Ter) c.5219C>G (p.Ser1740Ter) c.5111C>G (p.Ser1704Ter) c.5090C>G (p.Ser1697Ter) c.4436C>G (p.Ser1479Ter) c.5384C>G (p.Ser1795Ter) c.5132C>G (p.Ser1711Ter) c.3878C>G (p.Ser1293Ter) | ClinVar dbSNP |
| 16 | g.2088234C>T | CA394313901 | TSC2 | c.*3517C>T (n.*3517C>T) c.5015C>T (p.Ser1672Leu) c.5165C>T (p.Ser1722Leu) c.*5681C>T (n.*5681C>T) c.*7917C>T (n.*7917C>T) c.5168C>T (p.Ser1723Leu) c.5099C>T (p.Ser1700Leu) c.4967C>T (p.Ser1656Leu) c.5000C>T (p.Ser1667Leu) c.1391C>T n.3050C>T c.3822C>T c.5032-5C>T (n.5032-5C>T) n.765C>T c.4970C>T (p.Ser1657Leu) c.5036C>T (p.Ser1679Leu) c.4961C>T (p.Ser1654Leu) n.2816C>T c.5093C>T (p.Ser1698Leu) c.5039C>T (p.Ser1680Leu) c.5054C>T (p.Ser1685Leu) c.4964C>T (p.Ser1655Leu) c.5089C>T n.3252C>T c.5162C>T (p.Ser1721Leu) n.3983C>T n.2420C>T n.2391C>T n.2281C>T c.4823C>T (p.Ser1608Leu) c.*4335C>T (n.*4335C>T) c.4859C>T (p.Ser1620Leu) n.2891C>T c.1350C>T n.2283C>T c.5222C>T (p.Ser1741Leu) c.5219C>T (p.Ser1740Leu) c.5111C>T (p.Ser1704Leu) c.5090C>T (p.Ser1697Leu) c.4436C>T (p.Ser1479Leu) c.5384C>T (p.Ser1795Leu) c.5132C>T (p.Ser1711Leu) c.3878C>T (p.Ser1293Leu) | ClinVar dbSNP |
| 16 | g.2088234C= | CA2202031588 | TSC2 | c.*3517C= (n.*3517C=) c.5015C= (p.Ser1672=) c.5165C= (p.Ser1722=) c.*5681C= (n.*5681C=) c.*7917C= (n.*7917C=) c.5168C= (p.Ser1723=) c.5099C= (p.Ser1700=) c.4967C= (p.Ser1656=) c.5000C= (p.Ser1667=) c.1391C= n.3050C= c.3822C= c.5032-5C= (n.5032-5C=) n.765C= c.4970C= (p.Ser1657=) c.5036C= (p.Ser1679=) c.4961C= (p.Ser1654=) n.2816C= c.5093C= (p.Ser1698=) c.5039C= (p.Ser1680=) c.5054C= (p.Ser1685=) c.4964C= (p.Ser1655=) c.5089C= n.3252C= c.5162C= (p.Ser1721=) n.3983C= n.2420C= n.2391C= n.2281C= c.4823C= (p.Ser1608=) c.*4335C= (n.*4335C=) c.4859C= (p.Ser1620=) n.2891C= c.1350C= n.2283C= c.5222C= (p.Ser1741=) c.5219C= (p.Ser1740=) c.5111C= (p.Ser1704=) c.5090C= (p.Ser1697=) c.4436C= (p.Ser1479=) c.5384C= (p.Ser1795=) c.5132C= (p.Ser1711=) c.3878C= (p.Ser1293=) | dbSNP |