| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.109792678C>A | CA347775 | TRPV4 | c.1798G>T (p.Gly600Trp) c.*885G>T (n.*885G>T) n.1829G>T c.1696G>T (p.Gly566Trp) c.1618G>T (p.Gly540Trp) c.*181G>T (n.*181G>T) c.1657G>T (p.Gly553Trp) c.1477G>T (p.Gly493Trp) c.1951G>T (p.Gly651Trp) c.1810G>T (p.Gly604Trp) c.1771G>T (p.Gly591Trp) c.1630G>T (p.Gly544Trp) | ClinVar dbSNP |
| 12 | g.109792678C= | CA2062564564 | TRPV4 | c.1798G= (p.Gly600=) c.*885G= (n.*885G=) n.1829G= c.1696G= (p.Gly566=) c.1618G= (p.Gly540=) c.*181G= (n.*181G=) c.1657G= (p.Gly553=) c.1477G= (p.Gly493=) c.1951G= (p.Gly651=) c.1810G= (p.Gly604=) c.1771G= (p.Gly591=) c.1630G= (p.Gly544=) | dbSNP |