| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.6433927C>G | CA227874 | AIPL1 | c.268G>C (p.Asp90His) c.*140G>C (n.*140G>C) c.202G>C (p.Asp68His) c.243G>C c.232G>C (p.Asp78His) c.96+1082G>C (n.96+1082G>C) c.151G>C (p.Asp51His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.6433927C>T | CA8328580 | AIPL1 | c.268G>A (p.Asp90Asn) c.*140G>A (n.*140G>A) c.202G>A (p.Asp68Asn) c.243G>A c.232G>A (p.Asp78Asn) c.96+1082G>A (n.96+1082G>A) c.151G>A (p.Asp51Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.6433927C>A | CA397397050 | AIPL1 | c.268G>T (p.Asp90Tyr) c.*140G>T (n.*140G>T) c.202G>T (p.Asp68Tyr) c.243G>T c.232G>T (p.Asp78Tyr) c.96+1082G>T (n.96+1082G>T) c.151G>T (p.Asp51Tyr) | dbSNP gnomAD v4 |
| 17 | g.6433927C= | CA2245353372 | AIPL1 | c.268G= (p.Asp90=) c.*140G= (n.*140G=) c.202G= (p.Asp68=) c.243G= c.232G= (p.Asp78=) c.96+1082G= (n.96+1082G=) c.151G= (p.Asp51=) | dbSNP |