| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.37725611G>A | CA16609585 | TRIOBP | c.3055G>A (p.Gly1019Arg) c.*2538G>A (n.*2538G>A) c.4012G>A (n.4012G>A) n.2989G>A | ClinVar dbSNP gnomAD v4 |
| 22 | g.37725611G>T | CA324135661 | TRIOBP | c.3055G>T (p.Gly1019Trp) c.*2538G>T (n.*2538G>T) c.4012G>T (n.4012G>T) n.2989G>T | dbSNP gnomAD v3 gnomAD v4 |