| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.6425710C>T | CA8328359 | AIPL1 | c.905G>A (p.Arg302His) c.716G>A (p.Arg239His) c.*777G>A (n.*777G>A) c.839G>A (p.Arg280His) c.251+8209G>A c.869G>A (p.Arg290His) c.*876G>A (n.*876G>A) c.725G>A (p.Arg242His) c.833G>A (p.Arg278His) c.788G>A (p.Arg263His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.6425710C>A | CA203310 | AIPL1 | c.905G>T (p.Arg302Leu) c.716G>T (p.Arg239Leu) c.*777G>T (n.*777G>T) c.839G>T (p.Arg280Leu) c.251+8209G>T c.869G>T (p.Arg290Leu) c.*876G>T (n.*876G>T) c.725G>T (p.Arg242Leu) c.833G>T (p.Arg278Leu) c.788G>T (p.Arg263Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.6425710C>G | CA397394675 | AIPL1 | c.905G>C (p.Arg302Pro) c.716G>C (p.Arg239Pro) c.*777G>C (n.*777G>C) c.839G>C (p.Arg280Pro) c.251+8209G>C c.869G>C (p.Arg290Pro) c.*876G>C (n.*876G>C) c.725G>C (p.Arg242Pro) c.833G>C (p.Arg278Pro) c.788G>C (p.Arg263Pro) | dbSNP |
| 17 | g.6425710C= | CA2245346981 | AIPL1 | c.905G= (p.Arg302=) c.716G= (p.Arg239=) c.*777G= (n.*777G=) c.839G= (p.Arg280=) c.251+8209G= c.869G= (p.Arg290=) c.*876G= (n.*876G=) c.725G= (p.Arg242=) c.833G= (p.Arg278=) c.788G= (p.Arg263=) | dbSNP |