Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.76992176G>T | CA7007119 | CLN5 | c.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 |
13 | g.76992176G>C | CA388306491 | CLN5 | c.78G>C (p.Trp26Cys) n.79G>C c.17G>C n.88G>C c.225G>C (p.Trp75Cys) c.61G>C | dbSNP |
13 | g.76992176G>A | CA340000 | CLN5 | c.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 |