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 |