Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.76992176G>TCA7007119CLN5c.78G>T (p.Trp26Cys)
n.79G>T
c.17G>T
n.88G>T
c.225G>T (p.Trp75Cys)
c.61G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.76992176G>CCA388306491CLN5c.78G>C (p.Trp26Cys)
n.79G>C
c.17G>C
n.88G>C
c.225G>C (p.Trp75Cys)
c.61G>C
dbSNP
13g.76992176G>ACA340000CLN5c.78G>A (p.Trp26Ter)
n.79G>A
c.17G>A
n.88G>A
c.225G>A (p.Trp75Ter)
c.61G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched