Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.109784378G>A | CA117176 | TRPV4 | c.2396C>T (p.Pro799Leu) c.*1483C>T (n.*1483C>T) c.2294C>T (p.Pro765Leu) c.2216C>T (p.Pro739Leu) c.*779C>T (n.*779C>T) c.2255C>T (p.Pro752Leu) c.2075C>T (p.Pro692Leu) c.2549C>T (p.Pro850Leu) c.2408C>T (p.Pro803Leu) c.2369C>T (p.Pro790Leu) c.2228C>T (p.Pro743Leu) | ClinVar dbSNP |
12 | g.109784378G>C | CA117191 | TRPV4 | c.2396C>G (p.Pro799Arg) c.*1483C>G (n.*1483C>G) c.2294C>G (p.Pro765Arg) c.2216C>G (p.Pro739Arg) c.*779C>G (n.*779C>G) c.2255C>G (p.Pro752Arg) c.2075C>G (p.Pro692Arg) c.2549C>G (p.Pro850Arg) c.2408C>G (p.Pro803Arg) c.2369C>G (p.Pro790Arg) c.2228C>G (p.Pro743Arg) | ClinVar dbSNP |