| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.109792396C>A | CA386651783 | TRPV4 | c.1858G>T (p.Val620Phe) c.*945G>T (n.*945G>T) n.1889G>T c.1756G>T (p.Val586Phe) c.1678G>T (p.Val560Phe) c.*241G>T (n.*241G>T) c.1717G>T (p.Val573Phe) c.1537G>T (p.Val513Phe) c.2011G>T (p.Val671Phe) c.1870G>T (p.Val624Phe) c.1831G>T (p.Val611Phe) c.1690G>T (p.Val564Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109792396C>T | CA117166 | TRPV4 | c.1858G>A (p.Val620Ile) c.*945G>A (n.*945G>A) n.1889G>A c.1756G>A (p.Val586Ile) c.1678G>A (p.Val560Ile) c.*241G>A (n.*241G>A) c.1717G>A (p.Val573Ile) c.1537G>A (p.Val513Ile) c.2011G>A (p.Val671Ile) c.1870G>A (p.Val624Ile) c.1831G>A (p.Val611Ile) c.1690G>A (p.Val564Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |