Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.70951941G>ACA360098095SMN1c.835G>A (p.Gly279Ser)
c.739G>A (p.Gly247Ser)
c.835-498G>A (n.835-498G>A)
c.*59-498G>A (n.*59-498G>A)
n.89G>A
c.634G>A (p.Gly212Ser)
c.538G>A (p.Gly180Ser)
c.739-498G>A (n.739-498G>A)
dbSNP gnomAD v2 gnomAD v4
5g.70951941G>TCA120725348SMN1c.835G>T (p.Gly279Cys)
c.739G>T (p.Gly247Cys)
c.835-498G>T (n.835-498G>T)
c.*59-498G>T (n.*59-498G>T)
n.89G>T
c.634G>T (p.Gly212Cys)
c.538G>T (p.Gly180Cys)
c.739-498G>T (n.739-498G>T)
dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched