| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2075833T>G | CA394278371 | TSC2 | c.*1127T>G (n.*1127T>G) c.2625T>G (p.Phe875Leu) c.2580T>G (p.Phe860Leu) c.*2017T>G (n.*2017T>G) c.*3634T>G (n.*3634T>G) c.2613T>G (p.Phe871Leu) c.1237T>G c.*2082T>G (n.*2082T>G) c.2573T>G n.862T>G n.1593T>G c.2433T>G (p.Phe811Leu) c.*1879T>G (n.*1879T>G) c.2469T>G (p.Phe823Leu) c.1980T>G (p.Phe660Leu) c.2742T>G (p.Phe914Leu) c.1236T>G (p.Phe412Leu) | dbSNP |
| 16 | g.2075833T>C | CA017676 | TSC2 | c.*1127T>C (n.*1127T>C) c.2625T>C (p.Phe875=) c.2580T>C (p.Phe860=) c.*2017T>C (n.*2017T>C) c.*3634T>C (n.*3634T>C) c.2613T>C (p.Phe871=) c.1237T>C c.*2082T>C (n.*2082T>C) c.2573T>C n.862T>C n.1593T>C c.2433T>C (p.Phe811=) c.*1879T>C (n.*1879T>C) c.2469T>C (p.Phe823=) c.1980T>C (p.Phe660=) c.2742T>C (p.Phe914=) c.1236T>C (p.Phe412=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2075833T>A | CA394278370 | TSC2 | c.*1127T>A (n.*1127T>A) c.2625T>A (p.Phe875Leu) c.2580T>A (p.Phe860Leu) c.*2017T>A (n.*2017T>A) c.*3634T>A (n.*3634T>A) c.2613T>A (p.Phe871Leu) c.1237T>A c.*2082T>A (n.*2082T>A) c.2573T>A n.862T>A n.1593T>A c.2433T>A (p.Phe811Leu) c.*1879T>A (n.*1879T>A) c.2469T>A (p.Phe823Leu) c.1980T>A (p.Phe660Leu) c.2742T>A (p.Phe914Leu) c.1236T>A (p.Phe412Leu) | dbSNP |