| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.30912043C>T | CA127494 | AQP1 | c.134C>T (p.Ala45Val) c.672C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.30912043C>A | CA367147610 | AQP1 | c.134C>A (p.Ala45Glu) c.672C>A | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.30912043C= | CA1697904856 | AQP1 | c.134C= (p.Ala45=) c.672C= | dbSNP |