Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.76469731G>ACA215123AANATc.385G>A (p.Ala129Thr)
c.520G>A (p.Ala174Thr)
c.*162G>A (n.*162G>A)
n.696G>A
c.592G>A (p.Ala198Thr)
c.475G>A (p.Ala159Thr)
c.499G>A (p.Ala167Thr)
n.641G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.76469731G>CCA401161195AANATc.385G>C (p.Ala129Pro)
c.520G>C (p.Ala174Pro)
c.*162G>C (n.*162G>C)
n.696G>C
c.592G>C (p.Ala198Pro)
c.475G>C (p.Ala159Pro)
c.499G>C (p.Ala167Pro)
n.641G>C
dbSNP

Number of alleles fetched