Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.3572196C>T | CA8290192 | TRPV1 | c.2157G>A (p.Lys719=) c.*638G>A (n.*638G>A) c.1977G>A (p.Lys659=) c.2190G>A (p.Lys730=) n.2244G>A c.2127G>A (p.Lys709=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.3572196C= | CA2243936475 | TRPV1 | c.2157G= (p.Lys719=) c.*638G= (n.*638G=) c.1977G= (p.Lys659=) c.2190G= (p.Lys730=) n.2244G= c.2127G= (p.Lys709=) | dbSNP |