| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.66639189A>G | CA4278333 | KCTD7 | c.*10A>G (n.*10A>G) c.505+260A>G c.397+260A>G (n.397+260A>G) c.652A>G c.631A>G c.827A>G (p.Tyr276Cys) c.*690A>G (n.*690A>G) c.437+260A>G c.334A>G c.629A>G (p.Tyr210Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.66639189A= | CA1714179423 | KCTD7 | c.*10A= (n.*10A=) c.505+260A= c.397+260A= (n.397+260A=) c.652A= c.631A= c.827A= (p.Tyr276=) c.*690A= (n.*690A=) c.437+260A= c.334A= c.629A= (p.Tyr210=) | dbSNP |