Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.3583408G>C | CA397690331 | TRPV1 | c.1406C>G (p.Thr469Ser) c.1226C>G (p.Thr409Ser) c.1439C>G (p.Thr480Ser) n.1493C>G c.1376C>G (p.Thr459Ser) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.3583408G>A | CA8290462 | TRPV1 | c.1406C>T (p.Thr469Ile) c.1226C>T (p.Thr409Ile) c.1439C>T (p.Thr480Ile) n.1493C>T c.1376C>T (p.Thr459Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.3583408G= | CA2243942624 | TRPV1 | c.1406C= (p.Thr469=) c.1226C= (p.Thr409=) c.1439C= (p.Thr480=) n.1493C= c.1376C= (p.Thr459=) | dbSNP |