| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.33691269G>C | CA824080904 | ITPR3 | c.7225+160G>C (n.7225+160G>C) c.7294+160G>C (n.7294+160G>C) c.7042+160G>C (n.7042+160G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.33691269G>A | CA12293608 | ITPR3 | c.7225+160G>A (n.7225+160G>A) c.7294+160G>A (n.7294+160G>A) c.7042+160G>A (n.7042+160G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |