| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.109814742G>C | CA243479103 | TRPV4 | c.55C>G (p.Pro19Ala) n.86C>G n.504C>G c.208C>G (p.Pro70Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.109814742G>A | CA117184 | TRPV4 | c.55C>T (p.Pro19Ser) n.86C>T n.504C>T c.208C>T (p.Pro70Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109814742G= | CA2062588202 | TRPV4 | c.55C= (p.Pro19=) n.86C= n.504C= c.208C= (p.Pro70=) | dbSNP |