| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.3518587A>C | CA129385 | TRPV3 | c.2074T>G (p.Trp692Gly) c.1336T>G c.*2066T>G (n.*2066T>G) c.*2084T>G (n.*2084T>G) c.592T>G c.2026T>G (p.Trp676Gly) c.1369T>G (p.Trp457Gly) c.1027T>G (p.Trp343Gly) n.2148T>G | ClinVar dbSNP |
| 17 | g.3518587A= | CA2243916648 | TRPV3 | c.2074T= (p.Trp692=) c.1336T= c.*2066T= (n.*2066T=) c.*2084T= (n.*2084T=) c.592T= c.2026T= (p.Trp676=) c.1369T= (p.Trp457=) c.1027T= (p.Trp343=) n.2148T= | dbSNP |