| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.3417922C>T | CA16974474 | PRDM16 | c.2786C>T (p.Pro929Leu) c.2210C>T (p.Pro737Leu) c.2789C>T (p.Pro930Leu) n.2564C>T c.2234C>T (p.Pro745Leu) c.2783C>T (p.Pro928Leu) | dbSNP gnomAD v4 COSMIC |
| 1 | g.3417922C>A | CA544606 | PRDM16 | c.2786C>A (p.Pro929His) c.2210C>A (p.Pro737His) c.2789C>A (p.Pro930His) n.2564C>A c.2234C>A (p.Pro745His) c.2783C>A (p.Pro928His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.3417922C= | CA1142064927 | PRDM16 | c.2786C= (p.Pro929=) c.2210C= (p.Pro737=) c.2789C= (p.Pro930=) n.2564C= c.2234C= (p.Pro745=) c.2783C= (p.Pro928=) | dbSNP |