Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.74695789T>ACA400935063CD300LF,RAB37c.653A>T (p.Gln218Leu)
c.699A>T (p.Ala233=)
c.72+24131T>A (n.72+24131T>A)
c.549A>T (p.Ala183=)
c.684A>T (p.Ala228=)
n.479+24131T>A
c.*28A>T (n.*28A>T)
c.662A>T (p.Gln221Leu)
c.698A>T (p.Gln233Leu)
c.630A>T (p.Ala210=)
n.825A>T
c.785A>T (p.Gln262Leu)
c.776A>T (p.Gln259Leu)
c.740A>T (p.Gln247Leu)
c.731A>T (p.Gln244Leu)
c.707A>T (p.Gln236Leu)
c.762A>T (p.Ala254=)
c.753A>T (p.Ala251=)
c.717A>T (p.Ala239=)
c.710A>T (p.Gln237Leu)
c.765A>T (p.Ala255=)
c.756A>T (p.Ala252=)
c.708A>T (p.Ala236=)
c.687A>T (p.Ala229=)
c.675A>T (p.Ala225=)
n.748A>T
 dbSNP
17g.74695789T>CCA8749759CD300LF,RAB37c.653A>G (p.Gln218Arg)
c.699A>G (p.Ala233=)
c.72+24131T>C (n.72+24131T>C)
c.549A>G (p.Ala183=)
c.684A>G (p.Ala228=)
n.479+24131T>C
c.*28A>G (n.*28A>G)
c.662A>G (p.Gln221Arg)
c.698A>G (p.Gln233Arg)
c.630A>G (p.Ala210=)
n.825A>G
c.785A>G (p.Gln262Arg)
c.776A>G (p.Gln259Arg)
c.740A>G (p.Gln247Arg)
c.731A>G (p.Gln244Arg)
c.707A>G (p.Gln236Arg)
c.762A>G (p.Ala254=)
c.753A>G (p.Ala251=)
c.717A>G (p.Ala239=)
c.710A>G (p.Gln237Arg)
c.765A>G (p.Ala255=)
c.756A>G (p.Ala252=)
c.708A>G (p.Ala236=)
c.687A>G (p.Ala229=)
c.675A>G (p.Ala225=)
n.748A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74695789T>GCA400935064CD300LF,RAB37c.653A>C (p.Gln218Pro)
c.699A>C (p.Ala233=)
c.72+24131T>G (n.72+24131T>G)
c.549A>C (p.Ala183=)
c.684A>C (p.Ala228=)
n.479+24131T>G
c.*28A>C (n.*28A>C)
c.662A>C (p.Gln221Pro)
c.698A>C (p.Gln233Pro)
c.630A>C (p.Ala210=)
n.825A>C
c.785A>C (p.Gln262Pro)
c.776A>C (p.Gln259Pro)
c.740A>C (p.Gln247Pro)
c.731A>C (p.Gln244Pro)
c.707A>C (p.Gln236Pro)
c.762A>C (p.Ala254=)
c.753A>C (p.Ala251=)
c.717A>C (p.Ala239=)
c.710A>C (p.Gln237Pro)
c.765A>C (p.Ala255=)
c.756A>C (p.Ala252=)
c.708A>C (p.Ala236=)
c.687A>C (p.Ala229=)
c.675A>C (p.Ala225=)
n.748A>C
 dbSNP gnomAD v4

Number of alleles fetched