| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.3430888G>A | CA144645 | PRDM16 | c.3301G>A (p.Val1101Met) n.503G>A c.2725G>A (p.Val909Met) c.3304G>A (p.Val1102Met) n.3079G>A c.2749G>A (p.Val917Met) c.3298G>A (p.Val1100Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.3430888G= | CA1143496897 | PRDM16 | c.3301G= (p.Val1101=) n.503G= c.2725G= (p.Val909=) c.3304G= (p.Val1102=) n.3079G= c.2749G= (p.Val917=) c.3298G= (p.Val1100=) | dbSNP |