| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.22812252G>C | CA115593 | NIPA1 | c.316G>C (p.Gly106Arg) c.91G>C (p.Gly31Arg) c.160G>C (p.Gly54Arg) c.206G>C n.169G>C | ClinVar dbSNP |
| 15 | g.22812252G>A | CA115595 | NIPA1 | c.316G>A (p.Gly106Arg) c.91G>A (p.Gly31Arg) c.160G>A (p.Gly54Arg) c.206G>A n.169G>A | ClinVar dbSNP gnomAD v4 |