Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.112230210G>CCA6278499PTSc.166G>C (p.Val56Leu)
c.127G>C (p.Val43Leu)
c.-39G>C (p.=)
c.163+1537G>C (p.=)
c.164-416G>C (p.=)
n.117G>C
dbSNP ExAC gnomAD
11g.112230210G>ACA114320PTSc.166G>A (p.Val56Met)
c.127G>A (p.Val43Met)
c.-39G>A (p.=)
c.163+1537G>A (p.=)
c.164-416G>A (p.=)
n.117G>A
ClinVar dbSNP ExAC gnomAD

Number of alleles fetched