Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.26122364G>TCA6487603BHLHE41,SSPNc.1151C>A (p.Pro384Gln)
n.101+212G>T
c.-31+212G>T (p.=)
dbSNP ExAC gnomAD
12g.26122364G>CCA116907BHLHE41,SSPNc.1151C>G (p.Pro384Arg)
n.101+212G>C
c.-31+212G>C (p.=)
ClinVar dbSNP ExAC gnomAD

Number of alleles fetched