Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.108897133C>ACA53464866EDAR,RANBP2c.1121G>T (p.Trp374Leu)
c.1217G>T (p.Trp406Leu)
c.1268G>T (p.Trp423Leu)
c.1172G>T (p.Trp391Leu)
c.548G>T (p.Trp183Leu)
c.1361G>T (p.Trp454Leu)
c.1265G>T (p.Trp422Leu)
c.8370+124087C>A (n.8370+124087C>A)
dbSNP
2g.108897133C>TCA10588306EDAR,RANBP2c.1121G>A (p.Trp374Ter)
c.1217G>A (p.Trp406Ter)
c.1268G>A (p.Trp423Ter)
c.1172G>A (p.Trp391Ter)
c.548G>A (p.Trp183Ter)
c.1361G>A (p.Trp454Ter)
c.1265G>A (p.Trp422Ter)
c.8370+124087C>T (n.8370+124087C>T)
ClinVar dbSNP gnomAD v4

Number of alleles fetched