Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.21706706G>ACA9786516PAX1c.555G>A (p.Lys185=)
c.483G>A (p.Lys161=)
n.57-175G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.21706706G=CA2355005023PAX1c.555G= (p.Lys185=)
c.483G= (p.Lys161=)
n.57-175G=
dbSNP

Number of alleles fetched