| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.63150429A>C | CA385658546 | AVPR1A | c.408T>G (p.Phe136Leu) c.417T>G (p.Phe139Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.63150429A>T | CA6665103 | AVPR1A | c.408T>A (p.Phe136Leu) c.417T>A (p.Phe139Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.63150429A>G | CA6665102 | AVPR1A | c.408T>C (p.Phe136=) c.417T>C (p.Phe139=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |