| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.6426615C>T | CA227897 | AIPL1 | c.784G>A (p.Gly262Ser) c.595G>A (p.Gly199Ser) c.*656G>A (n.*656G>A) c.718G>A (p.Gly240Ser) c.251+7304G>A c.760G>A (p.Gly254Ser) c.748G>A (p.Gly250Ser) c.604G>A (p.Gly202Ser) c.712G>A (p.Gly238Ser) c.667G>A (p.Gly223Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.6426615C= | CA2245347581 | AIPL1 | c.784G= (p.Gly262=) c.595G= (p.Gly199=) c.*656G= (n.*656G=) c.718G= (p.Gly240=) c.251+7304G= c.760G= (p.Gly254=) c.748G= (p.Gly250=) c.604G= (p.Gly202=) c.712G= (p.Gly238=) c.667G= (p.Gly223=) | dbSNP |