| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.33670403C>G | CA450116318 | ITPR3 | c.2268C>G (p.Gly756=) c.2337C>G (p.Gly779=) c.2085C>G (p.Gly695=) | dbSNP |
| 6 | g.33670403C>T | CA3760527 | ITPR3 | c.2268C>T (p.Gly756=) c.2337C>T (p.Gly779=) c.2085C>T (p.Gly695=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.33670403C>A | CA450116317 | ITPR3 | c.2268C>A (p.Gly756=) c.2337C>A (p.Gly779=) c.2085C>A (p.Gly695=) | dbSNP gnomAD v2 gnomAD v4 |