| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.3518644G>A | CA200134 | TRPV3 | c.2017C>T (p.Leu673Phe) c.1279C>T c.*2009C>T (n.*2009C>T) c.*2027C>T (n.*2027C>T) c.535C>T c.1969C>T (p.Leu657Phe) c.*95C>T (n.*95C>T) c.1312C>T (p.Leu438Phe) c.970C>T (p.Leu324Phe) n.2091C>T | ClinVar dbSNP gnomAD v4 |
| 17 | g.3518644G= | CA2243916739 | TRPV3 | c.2017C= (p.Leu673=) c.1279C= c.*2009C= (n.*2009C=) c.*2027C= (n.*2027C=) c.535C= c.1969C= (p.Leu657=) c.*95C= (n.*95C=) c.1312C= (p.Leu438=) c.970C= (p.Leu324=) n.2091C= | dbSNP |