| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.37804717T>G | CA7160639 | TTC6 | c.4067T>G (p.Ile1356Ser) c.260T>G (p.Ile87Ser) c.209T>G (p.Ile70Ser) c.*1062+65562T>G (n.*1062+65562T>G) c.4115T>G (p.Ile1372Ser) c.2672T>G (p.Ile891Ser) c.2354T>G (p.Ile785Ser) n.4972T>G c.4078-2603T>G (n.4078-2603T>G) c.3116T>G (p.Ile1039Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.37804717T= | CA2130031084 | TTC6 | c.4067T= (p.Ile1356=) c.260T= (p.Ile87=) c.209T= (p.Ile70=) c.*1062+65562T= (n.*1062+65562T=) c.4115T= (p.Ile1372=) c.2672T= (p.Ile891=) c.2354T= (p.Ile785=) n.4972T= c.4078-2603T= (n.4078-2603T=) c.3116T= (p.Ile1039=) | dbSNP |