Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.15445717C>TCA119351CTRCc.760C>T (p.Arg254Trp)
c.*214C>T (n.*214C>T)
n.524C>T
c.614C>T (p.Pro205Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.15445717C=CA1141580597CTRCc.760C= (p.Arg254=)
c.*214C= (n.*214C=)
n.524C=
c.614C= (p.Pro205=)
dbSNP

Number of alleles fetched