| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.49964271A>C | CA2035379086 | AQP5 | c.612+96A>C (n.612+96A>C) n.601+96A>C | dbSNP |
| 12 | g.49964271A>G | CA236694431 | AQP5 | c.612+96A>G (n.612+96A>G) n.601+96A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49964271A= | CA2035379085 | AQP5 | c.612+96A= (n.612+96A=) n.601+96A= | dbSNP |