| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.6426934C>G | CA227886 | AIPL1 | c.589G>C (p.Ala197Pro) c.400G>C (p.Ala134Pro) c.*461G>C (n.*461G>C) c.523G>C (p.Ala175Pro) c.251+6985G>C c.565G>C (p.Ala189Pro) c.553G>C (p.Ala185Pro) c.601G>C (p.Ala201Pro) c.409G>C (p.Ala137Pro) c.472G>C (p.Ala158Pro) | ClinVar dbSNP |
| 17 | g.6426934C>A | CA397395442 | AIPL1 | c.589G>T (p.Ala197Ser) c.400G>T (p.Ala134Ser) c.*461G>T (n.*461G>T) c.523G>T (p.Ala175Ser) c.251+6985G>T c.565G>T (p.Ala189Ser) c.553G>T (p.Ala185Ser) c.601G>T (p.Ala201Ser) c.409G>T (p.Ala137Ser) c.472G>T (p.Ala158Ser) | dbSNP gnomAD v4 |
| 17 | g.6426934C= | CA2245347843 | AIPL1 | c.589G= (p.Ala197=) c.400G= (p.Ala134=) c.*461G= (n.*461G=) c.523G= (p.Ala175=) c.251+6985G= c.565G= (p.Ala189=) c.553G= (p.Ala185=) c.601G= (p.Ala201=) c.409G= (p.Ala137=) c.472G= (p.Ala158=) | dbSNP |