Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.6433927C>GCA227874AIPL1c.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
17g.6433927C>TCA8328580AIPL1c.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

Number of alleles fetched