| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.55680855C>T | CA1668443 | PNPT1 | c.517G>A (p.Ala173Thr) c.517G>A (p.Gly173Ser) c.*165G>A (n.*165G>A) c.277G>A (p.Ala93Thr) n.547G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.55680855C= | CA1252405691 | PNPT1 | c.517G= (p.Ala173=) c.517G= (p.Gly173=) c.*165G= (n.*165G=) c.277G= (p.Ala93=) n.547G= | dbSNP |