Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.8949347C>TCA572797CA6c.164C>T (p.Thr55Met)
c.79+3382C>T (n.79+3382C>T)
n.98+3382C>T
c.24+3382C>T (n.24+3382C>T)
c.176C>T (p.Thr59Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8949347C>GCA572798CA6c.164C>G (p.Thr55Arg)
c.79+3382C>G (n.79+3382C>G)
n.98+3382C>G
c.24+3382C>G (n.24+3382C>G)
c.176C>G (p.Thr59Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched