| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.6425781C>T | CA227899 | AIPL1 | c.834G>A (p.Trp278Ter) c.645G>A (p.Trp215Ter) c.*706G>A (n.*706G>A) c.768G>A (p.Trp256Ter) c.251+8138G>A c.798G>A (p.Trp266Ter) c.*805G>A (n.*805G>A) c.654G>A (p.Trp218Ter) c.762G>A (p.Trp254Ter) c.717G>A (p.Trp239Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.6425781C= | CA2245347067 | AIPL1 | c.834G= (p.Trp278=) c.645G= (p.Trp215=) c.*706G= (n.*706G=) c.768G= (p.Trp256=) c.251+8138G= c.798G= (p.Trp266=) c.*805G= (n.*805G=) c.654G= (p.Trp218=) c.762G= (p.Trp254=) c.717G= (p.Trp239=) | dbSNP |
| 17 | g.6425781C>G | CA397394830 | AIPL1 | c.834G>C (p.Trp278Cys) c.645G>C (p.Trp215Cys) c.*706G>C (n.*706G>C) c.768G>C (p.Trp256Cys) c.251+8138G>C c.798G>C (p.Trp266Cys) c.*805G>C (n.*805G>C) c.654G>C (p.Trp218Cys) c.762G>C (p.Trp254Cys) c.717G>C (p.Trp239Cys) | dbSNP |