Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.222297057C>TCA351113515PAX3c.242G>A (p.Gly81Asp)
n.623G>A
c.386G>A (p.Gly129Asp)
 ClinVar dbSNP
2g.222297057C>GCA253049PAX3c.242G>C (p.Gly81Ala)
n.623G>C
c.386G>C (p.Gly129Ala)
 ClinVar dbSNP gnomAD v4

Number of alleles fetched