Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.6425489G>ACA203312AIPL1c.1126C>T (p.Pro376Ser)
c.937C>T (p.Pro313Ser)
c.*998C>T (n.*998C>T)
c.1060C>T (p.Pro354Ser)
c.251+8430C>T
c.1090C>T (p.Pro364Ser)
c.*1097C>T (n.*1097C>T)
c.946C>T (p.Pro316Ser)
c.1054C>T (p.Pro352Ser)
c.*144C>T (n.*144C>T)
c.1009C>T (p.Pro337Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.6425489G>CCA397394213AIPL1c.1126C>G (p.Pro376Ala)
c.937C>G (p.Pro313Ala)
c.*998C>G (n.*998C>G)
c.1060C>G (p.Pro354Ala)
c.251+8430C>G
c.1090C>G (p.Pro364Ala)
c.*1097C>G (n.*1097C>G)
c.946C>G (p.Pro316Ala)
c.1054C>G (p.Pro352Ala)
c.*144C>G (n.*144C>G)
c.1009C>G (p.Pro337Ala)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched