Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.197143675G>TCA1310849ASPMc.577C>A (p.Gln193Lys)
c.577C>A
c.561+16C>A (p.=)
dbSNP ExAC gnomAD
1g.197143675G>ACA342262ASPMc.577C>T (p.Gln193Ter)
c.577C>T
c.561+16C>T (p.=)
ClinVar dbSNP

Number of alleles fetched