| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.54938095C>G | CA115078 | NCR1,NLRP7 | c.2078G>C (p.Arg693Pro) c.1994G>C (p.Arg665Pro) c.2162G>C (p.Arg721Pro) c.683-41C>G (n.683-41C>G) n.2596G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.54938095C>T | CA115087 | NCR1,NLRP7 | c.2078G>A (p.Arg693Gln) c.1994G>A (p.Arg665Gln) c.2162G>A (p.Arg721Gln) c.683-41C>T (n.683-41C>T) n.2596G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 19 | g.54938095C>A | CA310015880 | NCR1,NLRP7 | c.2078G>T (p.Arg693Leu) c.1994G>T (p.Arg665Leu) c.2162G>T (p.Arg721Leu) c.683-41C>A (n.683-41C>A) n.2596G>T | dbSNP gnomAD v4 |