| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.109803054C>T | CA6780485 | TRPV4 | c.649G>A (p.Ala217Thr) n.680G>A c.547G>A (p.Ala183Thr) c.802G>A (p.Ala268Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109803054C>A | CA347739 | TRPV4 | c.649G>T (p.Ala217Ser) n.680G>T c.547G>T (p.Ala183Ser) c.802G>T (p.Ala268Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109803054C= | CA2062577672 | TRPV4 | c.649G= (p.Ala217=) n.680G= c.547G= (p.Ala183=) c.802G= (p.Ala268=) | dbSNP |