Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.3494408C>ACA340003ASPA,SPATA22c.693C>A (p.Tyr231Ter)
c.-74+19004G>T (p.=)
n.868C>A
c.-74+19203G>T (p.=)
ClinVar dbSNP ExAC gnomAD
17g.3494408C>TCA202975ASPA,SPATA22c.693C>T (p.Tyr231=)
c.-74+19004G>A (p.=)
n.868C>T
c.-74+19203G>A (p.=)
ClinVar dbSNP ExAC gnomAD

Number of alleles fetched