| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.3412301A>T | CA144642 | PRDM16 | c.2104A>T (p.Lys702Ter) c.1531A>T (p.Lys511Ter) c.2107A>T (p.Lys703Ter) n.1882A>T c.1552A>T (p.Lys518Ter) | ClinVar dbSNP |
| 1 | g.3412301A= | CA1144228653 | PRDM16 | c.2104A= (p.Lys702=) c.1531A= (p.Lys511=) c.2107A= (p.Lys703=) n.1882A= c.1552A= (p.Lys518=) | dbSNP |
| 1 | g.3412301A>G | CA337999679 | PRDM16 | c.2104A>G (p.Lys702Glu) c.1531A>G (p.Lys511Glu) c.2107A>G (p.Lys703Glu) n.1882A>G c.1552A>G (p.Lys518Glu) | dbSNP gnomAD v4 |