| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.30912022C>T | CA127496 | AQP1 | c.113C>T (p.Pro38Leu) c.651C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.30912022C>A | CA367147565 | AQP1 | c.113C>A (p.Pro38Gln) c.651C>A | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.30912022C= | CA1697904793 | AQP1 | c.113C= (p.Pro38=) c.651C= | dbSNP |