| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2076118T>A | CA394279385 | TSC2 | c.*1237T>A (n.*1237T>A) c.2735T>A (p.Phe912Tyr) c.2690T>A (p.Phe897Tyr) c.*2127T>A (n.*2127T>A) c.*3744T>A (n.*3744T>A) c.2723T>A (p.Phe908Tyr) c.1347T>A c.2683T>A n.972T>A n.1703T>A c.2543T>A (p.Phe848Tyr) c.*1989T>A (n.*1989T>A) c.2579T>A (p.Phe860Tyr) c.2090T>A (p.Phe697Tyr) c.2852T>A (p.Phe951Tyr) c.1346T>A (p.Phe449Tyr) | ClinVar dbSNP gnomAD v4 |
| 16 | g.2076118T>G | CA394279387 | TSC2 | c.*1237T>G (n.*1237T>G) c.2735T>G (p.Phe912Cys) c.2690T>G (p.Phe897Cys) c.*2127T>G (n.*2127T>G) c.*3744T>G (n.*3744T>G) c.2723T>G (p.Phe908Cys) c.1347T>G c.2683T>G n.972T>G n.1703T>G c.2543T>G (p.Phe848Cys) c.*1989T>G (n.*1989T>G) c.2579T>G (p.Phe860Cys) c.2090T>G (p.Phe697Cys) c.2852T>G (p.Phe951Cys) c.1346T>G (p.Phe449Cys) | dbSNP |
| 16 | g.2076118T>C | CA017895 | TSC2 | c.*1237T>C (n.*1237T>C) c.2735T>C (p.Phe912Ser) c.2690T>C (p.Phe897Ser) c.*2127T>C (n.*2127T>C) c.*3744T>C (n.*3744T>C) c.2723T>C (p.Phe908Ser) c.1347T>C c.2683T>C n.972T>C n.1703T>C c.2543T>C (p.Phe848Ser) c.*1989T>C (n.*1989T>C) c.2579T>C (p.Phe860Ser) c.2090T>C (p.Phe697Ser) c.2852T>C (p.Phe951Ser) c.1346T>C (p.Phe449Ser) | ClinVar dbSNP |
| 16 | g.2076118T= | CA2202018798 | TSC2 | c.*1237T= (n.*1237T=) c.2735T= (p.Phe912=) c.2690T= (p.Phe897=) c.*2127T= (n.*2127T=) c.*3744T= (n.*3744T=) c.2723T= (p.Phe908=) c.1347T= c.2683T= n.972T= n.1703T= c.2543T= (p.Phe848=) c.*1989T= (n.*1989T=) c.2579T= (p.Phe860=) c.2090T= (p.Phe697=) c.2852T= (p.Phe951=) c.1346T= (p.Phe449=) | dbSNP |