| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.55679786C>T | CA319876 | PNPT1 | c.575G>A (p.Arg192Gln) c.*130G>A (n.*130G>A) c.*223G>A (n.*223G>A) c.335G>A (p.Arg112Gln) n.605G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.55679786C= | CA1252405155 | PNPT1 | c.575G= (p.Arg192=) c.*130G= (n.*130G=) c.*223G= (n.*223G=) c.335G= (p.Arg112=) n.605G= | dbSNP |