| 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 |
| 12 | g.109784378G>T | CA386648811 | TRPV4 | c.2396C>A (p.Pro799Gln) c.*1483C>A (n.*1483C>A) c.2294C>A (p.Pro765Gln) c.2216C>A (p.Pro739Gln) c.*779C>A (n.*779C>A) c.2255C>A (p.Pro752Gln) c.2075C>A (p.Pro692Gln) c.2549C>A (p.Pro850Gln) c.2408C>A (p.Pro803Gln) c.2369C>A (p.Pro790Gln) c.2228C>A (p.Pro743Gln) | ClinVar dbSNP |
| 12 | g.109784378G= | CA2062557941 | TRPV4 | c.2396C= (p.Pro799=) c.*1483C= (n.*1483C=) c.2294C= (p.Pro765=) c.2216C= (p.Pro739=) c.*779C= (n.*779C=) c.2255C= (p.Pro752=) c.2075C= (p.Pro692=) c.2549C= (p.Pro850=) c.2408C= (p.Pro803=) c.2369C= (p.Pro790=) c.2228C= (p.Pro743=) | dbSNP |