| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.36246035C>T | CA273969 | CLTA,GNE | c.705G>A (p.Trp235Ter) c.435G>A (p.Trp145Ter) c.612G>A (p.Trp204Ter) c.486-17163C>T (n.486-17163C>T) c.597G>A (p.Trp199Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.36246035C= | CA1846375019 | CLTA,GNE | c.705G= (p.Trp235=) c.435G= (p.Trp145=) c.612G= (p.Trp204=) c.486-17163C= (n.486-17163C=) c.597G= (p.Trp199=) | dbSNP |