| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.26631917G>C | CA384161748 | ITPR2 | c.2883C>G (p.His961Gln) c.2331C>G (p.His777Gln) c.1950C>G (p.His650Gln) n.3299C>G c.2943C>G (p.His981Gln) c.2877C>G (p.His959Gln) n.3359C>G | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.26631917G>A | CA6489463 | ITPR2 | c.2883C>T (p.His961=) c.2331C>T (p.His777=) c.1950C>T (p.His650=) n.3299C>T c.2943C>T (p.His981=) c.2877C>T (p.His959=) n.3359C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |