| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.109784379G>C | CA117187 | TRPV4 | c.2395C>G (p.Pro799Ala) c.*1482C>G (n.*1482C>G) c.2293C>G (p.Pro765Ala) c.2215C>G (p.Pro739Ala) c.*778C>G (n.*778C>G) c.2254C>G (p.Pro752Ala) c.2074C>G (p.Pro692Ala) c.2548C>G (p.Pro850Ala) c.2407C>G (p.Pro803Ala) c.2368C>G (p.Pro790Ala) c.2227C>G (p.Pro743Ala) | ClinVar dbSNP |
| 12 | g.109784379G>A | CA117189 | TRPV4 | c.2395C>T (p.Pro799Ser) c.*1482C>T (n.*1482C>T) c.2293C>T (p.Pro765Ser) c.2215C>T (p.Pro739Ser) c.*778C>T (n.*778C>T) c.2254C>T (p.Pro752Ser) c.2074C>T (p.Pro692Ser) c.2548C>T (p.Pro850Ser) c.2407C>T (p.Pro803Ser) c.2368C>T (p.Pro790Ser) c.2227C>T (p.Pro743Ser) | ClinVar dbSNP |
| 12 | g.109784379G>T | CA386648812 | TRPV4 | c.2395C>A (p.Pro799Thr) c.*1482C>A (n.*1482C>A) c.2293C>A (p.Pro765Thr) c.2215C>A (p.Pro739Thr) c.*778C>A (n.*778C>A) c.2254C>A (p.Pro752Thr) c.2074C>A (p.Pro692Thr) c.2548C>A (p.Pro850Thr) c.2407C>A (p.Pro803Thr) c.2368C>A (p.Pro790Thr) c.2227C>A (p.Pro743Thr) | ClinVar dbSNP |