| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.109788462C>T | CA386650017 | TRPV4 | c.2146G>A (p.Ala716Thr) c.*1233G>A (n.*1233G>A) n.2177G>A c.2044G>A (p.Ala682Thr) c.1966G>A (p.Ala656Thr) c.*529G>A (n.*529G>A) c.2005G>A (p.Ala669Thr) c.1825G>A (p.Ala609Thr) c.2299G>A (p.Ala767Thr) c.2158G>A (p.Ala720Thr) c.2119G>A (p.Ala707Thr) c.1978G>A (p.Ala660Thr) | ClinVar dbSNP |
| 12 | g.109788462C>A | CA117172 | TRPV4 | c.2146G>T (p.Ala716Ser) c.*1233G>T (n.*1233G>T) n.2177G>T c.2044G>T (p.Ala682Ser) c.1966G>T (p.Ala656Ser) c.*529G>T (n.*529G>T) c.2005G>T (p.Ala669Ser) c.1825G>T (p.Ala609Ser) c.2299G>T (p.Ala767Ser) c.2158G>T (p.Ala720Ser) c.2119G>T (p.Ala707Ser) c.1978G>T (p.Ala660Ser) | ClinVar dbSNP |
| 12 | g.109788462C= | CA2062560497 | TRPV4 | c.2146G= (p.Ala716=) c.*1233G= (n.*1233G=) n.2177G= c.2044G= (p.Ala682=) c.1966G= (p.Ala656=) c.*529G= (n.*529G=) c.2005G= (p.Ala669=) c.1825G= (p.Ala609=) c.2299G= (p.Ala767=) c.2158G= (p.Ala720=) c.2119G= (p.Ala707=) c.1978G= (p.Ala660=) | dbSNP |