| 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) | ClinVar 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 |
| 12 | g.109792396C= | CA2062564249 | TRPV4 | c.1858G= (p.Val620=) c.*945G= (n.*945G=) n.1889G= c.1756G= (p.Val586=) c.1678G= (p.Val560=) c.*241G= (n.*241G=) c.1717G= (p.Val573=) c.1537G= (p.Val513=) c.2011G= (p.Val671=) c.1870G= (p.Val624=) c.1831G= (p.Val611=) c.1690G= (p.Val564=) | dbSNP |
| 12 | g.109792396C>G | CA386651782 | TRPV4 | c.1858G>C (p.Val620Leu) c.*945G>C (n.*945G>C) n.1889G>C c.1756G>C (p.Val586Leu) c.1678G>C (p.Val560Leu) c.*241G>C (n.*241G>C) c.1717G>C (p.Val573Leu) c.1537G>C (p.Val513Leu) c.2011G>C (p.Val671Leu) c.1870G>C (p.Val624Leu) c.1831G>C (p.Val611Leu) c.1690G>C (p.Val564Leu) | dbSNP gnomAD v4 |