Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.233945906G>C | CA2182051 | TRPM8 | c.750G>C (p.Leu250=) c.27G>C (p.Leu9=) c.519G>C (p.Leu173=) c.600G>C (p.Leu200=) c.-311-1182G>C (n.-311-1182G>C) c.29-1182G>C (n.29-1182G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233945906G>A | CA431868768 | TRPM8 | c.750G>A (p.Leu250=) c.27G>A (p.Leu9=) c.519G>A (p.Leu173=) c.600G>A (p.Leu200=) c.-311-1182G>A (n.-311-1182G>A) c.29-1182G>A (n.29-1182G>A) | dbSNP gnomAD v4 |