Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.132905615G>A | CA005663 | TSC1 | c.1960C>T (p.Gln654Ter) c.1963C>T (p.Gln655Ter) c.1576C>T (p.Gln526Ter) c.1600C>T (p.Gln534Ter) c.1807C>T (p.Gln603Ter) c.27C>T c.*1733C>T (n.*1733C>T) c.1810C>T (p.Gln604Ter) c.481C>T (p.Gln161Ter) c.7C>T (p.Gln3Ter) c.700C>T (p.Gln234Ter) c.*1730C>T (n.*1730C>T) n.2338C>T n.918C>T n.2814C>T n.928C>T c.*1202C>T (n.*1202C>T) n.2839C>T n.1027C>T c.1597C>T (p.Gln533Ter) | ClinVar dbSNP gnomAD v4 |
9 | g.132905615G>T | CA375362373 | TSC1 | c.1960C>A (p.Gln654Lys) c.1963C>A (p.Gln655Lys) c.1576C>A (p.Gln526Lys) c.1600C>A (p.Gln534Lys) c.1807C>A (p.Gln603Lys) c.27C>A c.*1733C>A (n.*1733C>A) c.1810C>A (p.Gln604Lys) c.481C>A (p.Gln161Lys) c.7C>A (p.Gln3Lys) c.700C>A (p.Gln234Lys) c.*1730C>A (n.*1730C>A) n.2338C>A n.918C>A n.2814C>A n.928C>A c.*1202C>A (n.*1202C>A) n.2839C>A n.1027C>A c.1597C>A (p.Gln533Lys) | dbSNP |
9 | g.132905615G>C | CA375362368 | TSC1 | c.1960C>G (p.Gln654Glu) c.1963C>G (p.Gln655Glu) c.1576C>G (p.Gln526Glu) c.1600C>G (p.Gln534Glu) c.1807C>G (p.Gln603Glu) c.27C>G c.*1733C>G (n.*1733C>G) c.1810C>G (p.Gln604Glu) c.481C>G (p.Gln161Glu) c.7C>G (p.Gln3Glu) c.700C>G (p.Gln234Glu) c.*1730C>G (n.*1730C>G) n.2338C>G n.918C>G n.2814C>G n.928C>G c.*1202C>G (n.*1202C>G) n.2839C>G n.1027C>G c.1597C>G (p.Gln533Glu) | dbSNP |