| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.26400166C>T | CA199213 | ITPR2 | c.7492G>A (p.Gly2498Ser) c.2320G>A (n.2320G>A) c.6940G>A (p.Gly2314Ser) c.6559G>A (p.Gly2187Ser) c.7552G>A (p.Gly2518Ser) c.7486G>A (p.Gly2496Ser) | ClinVar dbSNP gnomAD v4 |
| 12 | g.26400166C= | CA2023423278 | ITPR2 | c.7492G= (p.Gly2498=) c.2320G= (n.2320G=) c.6940G= (p.Gly2314=) c.6559G= (p.Gly2187=) c.7552G= (p.Gly2518=) c.7486G= (p.Gly2496=) | dbSNP |