| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.36246163G>A | CA5056722 | CLTA,GNE | c.577C>T (p.Arg193Cys) c.307C>T (p.Arg103Cys) c.484C>T (p.Arg162Cys) c.486-17035G>A (n.486-17035G>A) c.469C>T (p.Arg157Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.36246163G>C | CA373418481 | CLTA,GNE | c.577C>G (p.Arg193Gly) c.307C>G (p.Arg103Gly) c.484C>G (p.Arg162Gly) c.486-17035G>C (n.486-17035G>C) c.469C>G (p.Arg157Gly) | dbSNP gnomAD v2 gnomAD v4 |