| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.55684952G>A | CA321958 | PNPT1 | c.394C>T (p.Arg132Ter) c.*42C>T (n.*42C>T) c.154C>T (p.Arg52Ter) n.424C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.55684952G>T | CA426175919 | PNPT1 | c.394C>A (p.Arg132=) c.*42C>A (n.*42C>A) c.154C>A (p.Arg52=) n.424C>A | dbSNP gnomAD v4 |
| 2 | g.55684952G= | CA1252408003 | PNPT1 | c.394C= (p.Arg132=) c.*42C= (n.*42C=) c.154C= (p.Arg52=) n.424C= | dbSNP |