| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2076141C>G | CA017936 | TSC2 | c.*1260C>G (n.*1260C>G) c.2758C>G (p.Arg920Gly) c.2713C>G (p.Arg905Gly) c.*2150C>G (n.*2150C>G) c.*3767C>G (n.*3767C>G) c.2746C>G (p.Arg916Gly) c.1370C>G c.2706C>G n.995C>G n.5C>G n.1726C>G c.2566C>G (p.Arg856Gly) c.*2012C>G (n.*2012C>G) c.2602C>G (p.Arg868Gly) c.2113C>G (p.Arg705Gly) c.2875C>G (p.Arg959Gly) c.1369C>G (p.Arg457Gly) | ClinVar dbSNP |
| 16 | g.2076141C>T | CA017942 | TSC2 | c.*1260C>T (n.*1260C>T) c.2758C>T (p.Arg920Trp) c.2713C>T (p.Arg905Trp) c.*2150C>T (n.*2150C>T) c.*3767C>T (n.*3767C>T) c.2746C>T (p.Arg916Trp) c.1370C>T c.2706C>T n.995C>T n.5C>T n.1726C>T c.2566C>T (p.Arg856Trp) c.*2012C>T (n.*2012C>T) c.2602C>T (p.Arg868Trp) c.2113C>T (p.Arg705Trp) c.2875C>T (p.Arg959Trp) c.1369C>T (p.Arg457Trp) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 16 | g.2076141C= | CA2202018961 | TSC2 | c.*1260C= (n.*1260C=) c.2758C= (p.Arg920=) c.2713C= (p.Arg905=) c.*2150C= (n.*2150C=) c.*3767C= (n.*3767C=) c.2746C= (p.Arg916=) c.1370C= c.2706C= n.995C= n.5C= n.1726C= c.2566C= (p.Arg856=) c.*2012C= (n.*2012C=) c.2602C= (p.Arg868=) c.2113C= (p.Arg705=) c.2875C= (p.Arg959=) c.1369C= (p.Arg457=) | dbSNP |