| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.6433984C>A | CA8328593 | AIPL1 | c.211G>T (p.Val71Phe) c.*83G>T (n.*83G>T) c.145G>T (p.Val49Phe) c.186G>T c.175G>T (p.Val59Phe) c.96+1025G>T (n.96+1025G>T) c.94G>T (p.Val32Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.6433984C= | CA2245353404 | AIPL1 | c.211G= (p.Val71=) c.*83G= (n.*83G=) c.145G= (p.Val49=) c.186G= c.175G= (p.Val59=) c.96+1025G= (n.96+1025G=) c.94G= (p.Val32=) | dbSNP |
| 17 | g.6433984C>T | CA397397317 | AIPL1 | c.211G>A (p.Val71Ile) c.*83G>A (n.*83G>A) c.145G>A (p.Val49Ile) c.186G>A c.175G>A (p.Val59Ile) c.96+1025G>A (n.96+1025G>A) c.94G>A (p.Val32Ile) | dbSNP gnomAD v4 |